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Sample records for enabling personalized medicine

  1. Multiplex Biomarker Approaches to Enable Point-of-Care Testing and Personalized Medicine.

    PubMed

    Guest, Paul C

    2017-01-01

    This chapter describes how current and future innovations driven by application of multiplex biomarker techniques can help in earlier and more efficacious treatment of patients, suffering from the world's most devastating and costly diseases. The application of new miniaturized biosensors and transducers will enable point-of-care testing by facilitating analysis of a single drop of a blood within the time span of a visit to the doctor's office. It is anticipated that the scoring algorithms used with future tests will incorporate both biochemical and clinical data, resulting in specific profiles for each patient or tested subject to enable personalized medicine approaches.

  2. Proteomic Approaches to Enable Point-of-Care Testing and Personalized Medicine for Psychiatric Disorders.

    PubMed

    Guest, Francesca L; Guest, Paul C

    2017-01-01

    This chapter describes how innovations that are driven by proteomic biomarker techniques can facilitate earlier and better treatment of patients who suffer from psychiatric disorders. The application of new micro-fluidic devices along with miniaturized biosensors and transducers will enable the development of handheld point-of-care testing instruments which can analyse a drop of a blood within the time span of a single visit to the doctor's office. It is anticipated that these approaches will incorporate both biochemical and clinical information, resulting in unique profiles for each test subject. These profiles can in turn be used to drive personalized medicine approaches in this devastating disease area. In addition, smartphone applications (apps) for self-monitoring will see increasing use for improved patient outcomes.

  3. A national clinical decision support infrastructure to enable the widespread and consistent practice of genomic and personalized medicine

    PubMed Central

    2009-01-01

    Background In recent years, the completion of the Human Genome Project and other rapid advances in genomics have led to increasing anticipation of an era of genomic and personalized medicine, in which an individual's health is optimized through the use of all available patient data, including data on the individual's genome and its downstream products. Genomic and personalized medicine could transform healthcare systems and catalyze significant reductions in morbidity, mortality, and overall healthcare costs. Discussion Critical to the achievement of more efficient and effective healthcare enabled by genomics is the establishment of a robust, nationwide clinical decision support infrastructure that assists clinicians in their use of genomic assays to guide disease prevention, diagnosis, and therapy. Requisite components of this infrastructure include the standardized representation of genomic and non-genomic patient data across health information systems; centrally managed repositories of computer-processable medical knowledge; and standardized approaches for applying these knowledge resources against patient data to generate and deliver patient-specific care recommendations. Here, we provide recommendations for establishing a national decision support infrastructure for genomic and personalized medicine that fulfills these needs, leverages existing resources, and is aligned with the Roadmap for National Action on Clinical Decision Support commissioned by the U.S. Office of the National Coordinator for Health Information Technology. Critical to the establishment of this infrastructure will be strong leadership and substantial funding from the federal government. Summary A national clinical decision support infrastructure will be required for reaping the full benefits of genomic and personalized medicine. Essential components of this infrastructure include standards for data representation; centrally managed knowledge repositories; and standardized approaches for

  4. Personalized Regenerative Medicine.

    PubMed

    Arjmand, Babak; Goodarzi, Parisa; Mohamadi-Jahani, Fereshteh; Falahzadeh, Khadijeh; Larijani, Bagher

    2017-03-01

    Personalized medicine as a novel field of medicine refers to the prescription of specific therapeutics procedure for an individual. This approach has established based on pharmacogenetic and pharmacogenomic information and data. The terms precision and personalized medicines are sometimes applied interchangeably. However, there has been a shift from "personalized medicine" towards "precision medicine". Although personalized medicine emerged from pharmacogenetics, nowadays it covers many fields of healthcare. Accordingly, regenerative medicine and cellular therapy as the new fields of medicine use cell-based products in order to develop personalized treatments. Different sources of stem cells including mesenchymal stem cells, embryonic stem cells and induced pluripotent stem cells (iPSCs) have been considered in targeted therapies which could give many advantages. iPSCs as the novel and individual pluripotent stem cells have been introduced as the appropriate candidates for personalized cell therapies. Cellular therapies can provide a personalized approach. Because of person-to-person and population differences in the result of stem cell therapy, individualized cellular therapy must be adjusted according to the patient specific profile, in order to achieve best therapeutic results and outcomes. Several factors should be considered to achieve personalized stem cells therapy such as, recipient factors, donor factors, and the overall body environment in which the stem cells could be active and functional. In addition to these factors, the source of stem cells must be carefully chosen based on functional and physical criteria that lead to optimal outcomes.

  5. Personalized Medicine and Pharmacogenomics

    MedlinePlus

    Healthy Lifestyle Consumer health Pharmacogenomics holds the promise that drugs might one day be tailored to your genetic ... 05, 2015 Original article: http://www.mayoclinic.org/healthy-lifestyle/consumer-health/in-depth/personalized-medicine/art-20044300 . ...

  6. Biobanking for Personalized Medicine.

    PubMed

    Liu, Angen; Pollard, Kai

    2015-01-01

    A biobank is an entity that collects, processes, stores, and distributes biospecimens and relevant data for use in basic, translational, and clinical research. Biobanking of high-quality human biospecimens such as tissue, blood and other bodily fluids along with associated patient clinical information provides a fundamental scientific infrastructure for personalized medicine. Identification of biomarkers that are specifically associated with particular medical conditions such as cancer, cardiovascular disease and neurological disorders are useful for early detection, prevention, and treatment of the diseases. The ability to determine individual tumor biomarkers and to use those biomarkers for disease diagnosis, prognosis and prediction of response to therapy is having a very significant impact on personalized medicine and is rapidly changing the way clinical care is conducted. As a critical requirement for personalized medicine is the availability of a large collection of patient samples with well annotated patient clinical and pathological data, biobanks thus play an important role in personalized medicine advancement. The goal of this chapter is to explore the role of biobanks in personalized medicine and discuss specific needs regarding biobank development for translational and clinical research, especially for personalized medicine advancement.

  7. [Precision and personalized medicine].

    PubMed

    Sipka, Sándor

    2016-10-01

    The author describes the concept of "personalized medicine" and the newly introduced "precision medicine". "Precision medicine" applies the terms of "phenotype", "endotype" and "biomarker" in order to characterize more precisely the various diseases. Using "biomarkers" the homogeneous type of a disease (a "phenotype") can be divided into subgroups called "endotypes" requiring different forms of treatment and financing. The good results of "precision medicine" have become especially apparent in relation with allergic and autoimmune diseases. The application of this new way of thinking is going to be necessary in Hungary, too, in the near future for participants, controllers and financing boards of healthcare. Orv. Hetil., 2016, 157(44), 1739-1741.

  8. The emergence of point-of-care blood-based biomarker testing for psychiatric disorders: enabling personalized medicine.

    PubMed

    Guest, Francesca L; Guest, Paul C; Martins-de-Souza, Daniel

    2016-01-01

    For psychiatric disorders, repeated failures in converting scientific discoveries into novel drugs has precipitated a crisis and eroded confidence in drug discovery. This review describes how current and future innovations driven by application of biomarkers can help to re-initiate research in this area. This will have positive impact on the field of psychiatry and result in application of sensitive and specific biochemical tests in parallel with the traditional questionnaires for improved diagnosis. Furthermore, application of emerging biosensor tools will facilitate point-of-care testing by fusion of biochemical and clinical data. In this way, patient data will be comprised of past medical histories, biopatterns and prognosis information, resulting in personalized profiles or molecular fingerprints for patients with these conditions.

  9. Personalized Medicine in Allergy

    PubMed Central

    Ferrando, Matteo; Bagnasco, Diego; Varricchi, Gilda; Bernardi, Stefano; Bragantini, Alice; Passalacqua, Giovanni

    2017-01-01

    Allergic disease is among the most common pathologies worldwide and its prevalence has constantly increased up to the present days, even if according to the most recent data it seems to be slightly slowing down. Allergic disease has not only a high rate of misdiagnosis and therapeutic inefficacy, but represents an enormous, resource-absorbing black hole in respiratory and general medicine. The aim of this paper is to summarize principal therapeutic innovations in atopic disease management befallen in the recent years in terms of personalized/precision medicine. PMID:27826958

  10. Balancing personalized medicine and personalized care.

    PubMed

    Cornetta, Kenneth; Brown, Candy Gunther

    2013-03-01

    The current description of personalized medicine by the National Institutes of Health is "the science of individualized prevention and therapy." Although physicians are beginning to see the promise of genetic medicine coming to fruition, the rapid pace of sequencing technology, informatics, and computer science predict a revolution in the ability to care for patients in the near future. The enthusiasm expressed by researchers is well founded, but the expectations voiced by the public do not center on advancing technology. Rather, patients are asking for personalized care: a holistic approach that considers physical, mental, and spiritual well-being. This perspective considers psychological, religious, and ethical challenges that may arise as the precision of preventive medicine improves. Psychological studies already highlight the barriers to single gene testing and suggest significant barriers to the predictive testing envisioned by personalized medicine. Certain religious groups will likely mount opposition if they believe personalized medicine encourages embryo selection. If the technology prompts cost-containment discussions, those concerned about the sanctity of life may raise ethical objections. Consequently, the availability of new scientific developments does not guarantee advances in treatment because patients may prove unwilling to receive and act on personalized genetic information. This perspective highlights current efforts to incorporate personalized medicine and personalized care into the medical curriculum, genetic counseling, and other aspects of clinical practice. Because these efforts are generally independent, the authors offer recommendations for physicians and educators so that personalized medicine can be implemented in a manner that meets patient expectations for personalized care.

  11. [Personalized medicine: equity and access].

    PubMed

    Joly, Yann; Knoppers, Bartha M

    2014-11-01

    Personalized medicine has seen a recent increase in popularity amongst medical researchers and policymakers. Nevertheless, there are persistent legal, ethical, and social questions that need to be explored, particularly related to the criticism that personalized medicine constitutes an elitist model of healthcare. Investigating this critique the current manuscript argues that personalized medicine has the potential to become a positive force for equitable access to better healthcare at a national and international level.

  12. Personalized medicine in rheumatology.

    PubMed

    Kłak, Anna; Paradowska-Gorycka, Agnieszka; Kwiatkowska, Brygida; Raciborski, Filip

    2016-01-01

    In the era of the 21(st) century, rheumatoid arthritis (RA) is still poorly characterized. Rheumatoid arthritis is a common but heterogeneous disease, not only in the course and clinical symptoms, but also in the clinical response to treatment. Now it is known that early, correct diagnosis and starting treatment with disease-modifying drugs (DMARDs), of which methotrexate (MTX) remains the gold standard in the treatment of RA, is crucial in order to prevent joint destruction, functional disability and an unfavourable disease outcome. Early diagnosis of rheumatoid arthritis is significant in so much as the primary treatment can be started better. Pharmacogenetic and pharmacogenomic studies, which help determine the genetic profile of individual patients, may bring us closer to personalized medicine. Further studies on RA should allow for the identification of disease-specific genes at the stage when their tolerance by the organism is still preserved (before auto-aggression develops).

  13. Personalized medicine in rheumatology

    PubMed Central

    Kłak, Anna; Kwiatkowska, Brygida; Raciborski, Filip

    2016-01-01

    In the era of the 21st century, rheumatoid arthritis (RA) is still poorly characterized. Rheumatoid arthritis is a common but heterogeneous disease, not only in the course and clinical symptoms, but also in the clinical response to treatment. Now it is known that early, correct diagnosis and starting treatment with disease-modifying drugs (DMARDs), of which methotrexate (MTX) remains the gold standard in the treatment of RA, is crucial in order to prevent joint destruction, functional disability and an unfavourable disease outcome. Early diagnosis of rheumatoid arthritis is significant in so much as the primary treatment can be started better. Pharmacogenetic and pharmacogenomic studies, which help determine the genetic profile of individual patients, may bring us closer to personalized medicine. Further studies on RA should allow for the identification of disease-specific genes at the stage when their tolerance by the organism is still preserved (before auto-aggression develops). PMID:27826172

  14. Personalized medicine in cardiovascular diseases.

    PubMed

    Lee, Moo-Sik; Flammer, Andreas J; Lerman, Lilach O; Lerman, Amir

    2012-09-01

    Personalized medicine is a novel medical model with all decisions and practices being tailored to individual patients in whatever ways possible. In the era of genomics, personalized medicine combines the genetic information for additional benefit in preventive and therapeutic strategies. Personalized medicine may allow the physician to provide a better therapy for patients in terms of efficiency, safety and treatment length to reduce the associated costs. There was a remarkable growth in scientific publication on personalized medicine within the past few years in the cardiovascular field. However, so far, only very few cardiologists in the USA are incorporating personalized medicine into clinical treatment. We review the concepts, strengths, limitations and challenges of personalized medicine with a particular focus on cardiovascular diseases (CVDs). There are many challenges from both scientific and policy perspectives to personalized medicine, which can overcome them by comprehensive concept and understanding, clinical application, and evidence based practices. Individualized medicine serves a pivotal role in the evolution of national and global healthcare reform, especially, in the CVDs fields. Ultimately, personalized medicine will affect the entire landscape of health care system in the near future.

  15. Perspective: Balancing Personalized Medicine and Personalized Care

    PubMed Central

    Cornetta, Kenneth; Brown, Candy Gunther

    2013-01-01

    The current description of personalized medicine by the National Institutes of Health is “the science of individualized prevention and therapy.” Although physicians are just beginning to see the promise of genetic medicine coming to fruition, the rapid pace of sequencing technology, informatics, and computer science predict a true revolution in the ability to care for patients in the near future. The enthusiasm expressed by researchers is well founded, but the expectations voiced by the public do not center on advancing technology. Rather, patients are asking for personalized care: a holistic approach that considers an individual’s physical, mental, and spiritual well-being. This perspective considers psychological, religious, and ethical challenges that may arise as the precision of preventive medicine improves. Psychological studies already highlight the barriers to single gene testing and suggest significant barriers to the predictive testing envisioned by personalized medicine. Certain religious groups will likely mount opposition if they believe personalized medicine encourages embryo selection. If the technology prompts cost-containment discussions, those concerned about the sanctity of life may raise ethical objections. Consequently, the availability of new scientific developments does not guarantee advances in treatment because patients may prove unwilling to receive and act upon personalized genetic information. This perspective highlights current efforts to incorporate personalized medicine and personalized care into the medical curriculum, genetic counseling, and other aspects of clinical practice. As these efforts are generally independent, the authors offer recommendations for physicians and educators so that personalized medicine can be implemented in a manner that meets patient expectations for personalized care. PMID:23348082

  16. [Personalized medicine in rheumatology].

    PubMed

    Szekanecz, Zoltán

    2013-03-31

    In rheumatology, especially in arthritides, early diagnosis and aggressive therapy may open up new dimensions of expectations, such as improvement of pain, prevention of structural, functional damage and better quality of life. Targeted (biological) therapy has brought new horizons in rheumatology. As it is a rather expensive treatment modality, it has been urgent to develop tools suitable for the prediction of therapeutic responses. Several clinical, immunological and genetic biomarkers have been established for this purpose. Among clinical markers, male sex, younger age, lower or even higher disease activity at baseline, combination treatment and quitting smoking may lead to better treatment outcome. Immunological biomarkers, such as C-reactive protein, seropositivity, peripheral blood or synovial cellular content have been associated with therapeutic responses. Finally, numerous genes or gene signatures may also predict the efficacy or safety of immunosuppressive drugs. Although sometimes there have been only few studies conducted that led to some controversy, some biomarkers have also been validated. This may lead us to optimism in terms of wider acceptance of personalized medicine in rheumatology.

  17. Synthetic biology and personalized medicine.

    PubMed

    Jain, K K

    2013-01-01

    Synthetic biology, application of synthetic chemistry to biology, is a broad term that covers the engineering of biological systems with structures and functions not found in nature to process information, manipulate chemicals, produce energy, maintain cell environment and enhance human health. Synthetic biology devices contribute not only to improve our understanding of disease mechanisms, but also provide novel diagnostic tools. Methods based on synthetic biology enable the design of novel strategies for the treatment of cancer, immune diseases metabolic disorders and infectious diseases as well as the production of cheap drugs. The potential of synthetic genome, using an expanded genetic code that is designed for specific drug synthesis as well as delivery and activation of the drug in vivo by a pathological signal, was already pointed out during a lecture delivered at Kuwait University in 2005. Of two approaches to synthetic biology, top-down and bottom-up, the latter is more relevant to the development of personalized medicines as it provides more flexibility in constructing a partially synthetic cell from basic building blocks for a desired task.

  18. Essential Elements of Personalized Medicine

    PubMed Central

    Burke, Wylie; Trinidad, Susan Brown; Press, Nancy A

    2014-01-01

    Summary Genomic information has been promoted as the basis for “personalized” health care. While genomic tests will offer many potential opportunities to improve the delivery of care, such advances do not in themselves constitute a paradigm shift in the delivery of health care. A more accurate characterization of personalized medicine is as a comprehensive effort to tailor health care to the individual, spanning multiple dimensions. This concept of personalized medicine is based on a partnership between clinician and patient that utilizes shared decision making to determine the best health care options among the available choices, weighing the patient’s personal values and preferences together with clinical findings. This approach is particularly important for difficult clinical decisions involving uncertainty and trade-offs, such as those involved in prostate cancer screening and management. The delivery of personalized medicine also requires adequate health care access and assurance that basic health needs have been met. Substantial research investment will be needed to identify how genomic tests can contribute to this effort. PMID:24321254

  19. Personalized medicine: hope or hype?

    PubMed Central

    Salari, Keyan; Watkins, Hugh; Ashley, Euan A.

    2012-01-01

    Medicine has always been personalized. For years, physicians have incorporated environmental, behavioural, and genetic factors that affect disease and drug response into patient management decisions. However, until recently, the ‘genetic’ data took the form of family history and self-reported race/ethnicity. As genome sequencing declines in cost, the availability of specific genomic information will no longer be limiting. Rather, our ability to parse these data and our decision whether to use it will become primary. As our understanding of genetic association with drug responses and diseases continues to improve, clinically useful genetic tests may emerge to improve upon our previous methods of assessing genetic risks. Indeed, genetic tests for monogenic disorders have already proven useful. Such changes may usher in a new era of personalized medicine. In this review, we will discuss the utility and limitations of personal genomic data in three domains: pharmacogenomics, assessment of genetic predispositions for common diseases, and identification of rare disease-causing genetic variants. PMID:22659199

  20. Personality types in academic medicine.

    PubMed

    Wallick, M M; Cambre, K M

    1999-07-01

    Based on Swiss physician-scholar Carl G. Jung's theory of psychological types proposed in the 1920s, Kathleen Cook Briggs and her daughter Isabel Briggs Myers developed the Myers-Briggs Type Indicator (MBTI) three decades later. They applied Jung's dynamic theory to determine how persons take in information, make decisions, and communicate thoughts and feelings. Medical students were of special interest to their research and much has been written since then about the use of the MBTI in medicine. In this study, results of MBTIs administered to 1797 freshmen students at Louisiana State University School of Medicine--New Orleans from 1988 to 1998 are compared with those reported by the MBTI developers and others over the years and throughout the United States. Findings indicate some noteworthy shifts in the psychological profile of medical students over time and among schools that may be due to changes in the delivery of health care, the increase in technology in the practice of medicine, and the dramatic increase of women in medicine.

  1. Role of Proteomics in the Development of Personalized Medicine.

    PubMed

    Jain, Kewal K

    2016-01-01

    Advances in proteomic technologies have made import contribution to the development of personalized medicine by facilitating detection of protein biomarkers, proteomics-based molecular diagnostics, as well as protein biochips and pharmacoproteomics. Application of nanobiotechnology in proteomics, nanoproteomics, has further enhanced applications in personalized medicine. Proteomics-based molecular diagnostics will have an important role in the diagnosis of certain conditions and understanding the pathomechanism of disease. Proteomics will be a good bridge between diagnostics and therapeutics; the integration of these will be important for advancing personalized medicine. Use of proteomic biomarkers and combination of pharmacoproteomics with pharmacogenomics will enable stratification of clinical trials and improve monitoring of patients for development of personalized therapies. Proteomics is an important component of several interacting technologies used for development of personalized medicine, which is depicted graphically. Finally, cancer is a good example of applications of proteomic technologies for personalized management of cancer.

  2. Interdisciplinary Communication in a Literature and Medicine Course: "Personalizing" the Discourse of Medicine.

    ERIC Educational Resources Information Center

    Welch, Kathleen

    2000-01-01

    Presents an ethnographic study into whether or not reading and writing about literature helps medical students communicate more effectively in the physician-patient encounter. Demonstrates that although medical students were embedded in the discourse of medicine, reflective writing enabled them to conceive medicine as an interpretive, personal,…

  3. Informatics Enabled Behavioral Medicine in Oncology

    PubMed Central

    Hesse, Bradford W.; Suls, Jerry M.

    2011-01-01

    For the practicing physician, the behavioral implications of preventing, diagnosing, and treating cancer are many and varied. Fortunately, an enhanced capacity in informatics may help create a redesigned ecosystem in which applying evidence-based principles from behavioral medicine will become a routine part of care. Innovation to support this evolution will be spurred by the “meaningful use” criteria stipulated by the Health Information Technology for Economic and Clinical Health (HITECH) Act of 2009, and by focused research and development efforts within the broader health information ecosystem. The implications for how to better integrate evidence-based principles in behavioral medicine into oncology care through both spheres of development are discussed within the framework of the cancer control continuum. The promise of using the data collected through these tools to accelerate discovery in psycho-oncology is also discussed. If nurtured appropriately, these developments should help accelerate successes against cancer by altering the behavioral milieu. PMID:21799329

  4. Crowdfunding for Personalized Medicine Research

    PubMed Central

    Fumagalli, Danielle C.; Gouw, Arvin M.

    2015-01-01

    Given the current funding situation of the National Institutes of Health, getting funding for rare disease research is extremely difficult. In light of the enormous potential for research in the rare diseases and the scarcity of research funding, we provide a case study of a novel successful crowdfunding approach at a non-profit organization called Rare Genomics Institute. We partner with biotechnology companies willing to donate their products, such as mouse models, gene editing software, and sequencing services, for which researchers can apply. First, we find that personal stories can be powerful tools to seek funding from sympathetic donors who do not have the same rational considerations of impact and profit. Second, for foundations facing funding restrictions, company donations can be a valuable tool in addition to crowdfunding. Third, rare disease research is particularly rewarding for scientists as they proceed to be pioneers in the field during their academic careers. Overall, by connecting donors, foundations, researchers, and patients, crowdfunding has become a powerful alternative funding mechanism for personalized medicine. PMID:26604866

  5. Crowdfunding for Personalized Medicine Research.

    PubMed

    Fumagalli, Danielle C; Gouw, Arvin M

    2015-12-01

    Given the current funding situation of the National Institutes of Health, getting funding for rare disease research is extremely difficult. In light of the enormous potential for research in the rare diseases and the scarcity of research funding, we provide a case study of a novel successful crowdfunding approach at a non-profit organization called Rare Genomics Institute. We partner with biotechnology companies willing to donate their products, such as mouse models, gene editing software, and sequencing services, for which researchers can apply. First, we find that personal stories can be powerful tools to seek funding from sympathetic donors who do not have the same rational considerations of impact and profit. Second, for foundations facing funding restrictions, company donations can be a valuable tool in addition to crowdfunding. Third, rare disease research is particularly rewarding for scientists as they proceed to be pioneers in the field during their academic careers. Overall, by connecting donors, foundations, researchers, and patients, crowdfunding has become a powerful alternative funding mechanism for personalized medicine.

  6. Words matter: distinguishing "personalized medicine" and "biologically personalized therapeutics".

    PubMed

    Cherny, Nathan I; de Vries, Elisabeth G E; Emanuel, Linda; Fallowfield, Lesley; Francis, Prudence A; Gabizon, Alberto; Piccart, Martine J; Sidransky, David; Soussan-Gutman, Lior; Tziraki, Chariklia

    2014-12-01

    "Personalized medicine" has become a generic term referring to techniques that evaluate either the host or the disease to enhance the likelihood of beneficial patient outcomes from treatment interventions. There is, however, much more to personalization of care than just identifying the biotherapeutic strategy with the highest likelihood of benefit. In its new meaning, "personalized medicine" could overshadow the individually tailored, whole-person care that is at the bedrock of what people need and want when they are ill. Since names and definitional terms set the scope of the discourse, they have the power to define what personalized medicine includes or does not include, thus influencing the scope of the professional purview regarding the delivery of personalized care. Taxonomic accuracy is important in understanding the differences between therapeutic interventions that are distinguishable in their aims, indications, scope, benefits, and risks. In order to restore the due emphasis to the patient and his or her needs, we assert that it is necessary, albeit belated, to deconflate the contemporary term "personalized medicine" by taxonomizing this therapeutic strategy more accurately as "biologically personalized therapeutics" (BPT). The scope of truly personalized medicine and its relationship to biologically personalized therapeutics is described, emphasizing that the best of care must give due recognition and emphasis to both BPT and truly personalized medicine.

  7. Clinical practice on the horizon: personalized medicine.

    PubMed

    Chadwell, Katherine

    2013-01-01

    With the advent of the human genome project, we have never known so much about the uniqueness of individuals. Personalized medicine is poised to use this genetic and genomic information along with the impact of environment and clinical presentation to provide healthcare from an individual perspective. This offers the opportunity to improve our ability to diagnose and predict disease, provide earlier intervention, identify new treatment regimens, and address the safety and efficacy of drug use. The impact of personalized medicine to our current model of healthcare delivery is tremendous, and although strides have been made, there are still challenges and barriers to overcome before personalized medicine can be fully implemented. Advanced practice nurses may not be fully aware of the personalized medicine initiative or may not be well versed on genetic and genomic content, which is a key concept of personalized medicine. The role of advanced practice nurses is an integral part of the healthcare system, and as such, they are poised to be key providers and contributors to personalized medicine. The personalized medicine initiative is discussed along with examples of genetic and genomic information that lend to our understanding, diagnosis, and treatment of disease, as well as the role and responsibilities of advanced practice nurses. Resources for personalized medicine and genetic and genomic content are provided.

  8. Assessing Personalized Medicines in Australia

    PubMed Central

    Farah, Claude; Schubert, Camille; Mitchell, Andrew; Hiller, Janet E.; Ryan, Philip

    2013-01-01

    Background. Since the mapping of the human genome in 2003, the development of biomarker targeted therapy and clinical adoption of “personalized medicine” has accelerated. Models for insurance subsidy of biomarker/test/drug packages (“codependent technologies” or technologies that work better together) are not well developed. Our aim was to create a framework to assess the safety, effectiveness, and cost-effectiveness of these technologies for a national coverage or reimbursement decision. Methods. We extracted information from assessments of recent Australian reimbursement applications that concerned genetic tests and treatments to identify items and evidence gaps considered important to the decision-making process. Relevant international regulatory and reimbursement guidance documents were also reviewed. Items addressing causality theory were included to help explain the relationship between biomarker and treatment. The framework was reviewed by policy makers and technical experts, prior to a public consultation process. Results. The framework consists of 5 components—context, clinical benefit, evidence translation, cost-effectiveness, and financial impact—and a checklist of 79 items. To determine whether the biomarker test, the drug, both, or neither should be subsidized, we considered it crucial to identify whether the biomarker is a treatment effect modifier or a prognostic factor. To aid in this determination, the framework explicitly allows the linkage of different types of evidence to examine whether targeting the biomarker varies the likely clinical benefit of the drug, and if so, to what extent. Conclusions. The first national framework to assess personalized medicine for coverage or reimbursement decisions has been developed and introduced and may be a suitable model for other health systems. PMID:22895559

  9. Personalized Genomic Medicine and the Rhetoric of Empowerment

    PubMed Central

    Juengst, Eric T.; Flatt, Michael A.; Settersten, Richard A.

    2013-01-01

    Advocates of “personalized” genomic medicine maintain that it is revolutionary not just in what it can reveal to us, but in how it will enable us to take control of our health. But we should not assume that patient empowerment always yields positive outcomes. To assess the social impact of personalized medicine, we must anticipate how the virtue might go awry in practice. PMID:22976411

  10. Insights on personalized medicine from Ayurveda.

    PubMed

    Sumantran, Venil N; Tillu, Girish

    2013-04-01

    The "omics" era of research has provided vital information on the genetic and biochemical diversity of individuals. This has lead to the emergence of "personalized medicine," wherein one aims to design specific drugs for individual patients or subtypes of patients. Indeed, the ongoing patent wars on this matter, suggest that personalized medicine represents a major goal for today's pharmaceutical industries. Although the concept of personalized medicine is new to modern medicine, it is a well-established concept in Ayurveda, the traditional system of Indian medicine that is still being practiced. Therefore, this article discusses topics that are crucial for the advancement of modern personalized medicine. These topics include disease susceptibility, disease subtypes, and Ayurvedic therapeutics. First, we explain how Ayurveda, Traditional Chinese Medicine, and Traditional Korean medicine or Sasang Constitutional medicine; conceptualize disease susceptibility and disease subtypes. Next, we focus on conceptual similarities between molecular medicine and Ayurvedic concepts of disease susceptibility and disease subtypes. For each topic, we explain the relevant experimental evidence reported in the literature. We also propose new hypotheses and suggest experimental approaches for their testing and validation.

  11. Personalized medicine for individuals with Down syndrome.

    PubMed

    McCabe, Linda L; McCabe, Edward R B

    2011-01-01

    As the cost of whole genome analysis decreases, we have the opportunity to explore the interactions of various gene changes in an individual that lead to their particular phenotype. This will provide the ability to move from the epidemiologic study of groups, in which, the individuals are treated collectively and homogenously, to personalized medicine, and a model in which the individual is recognized and treated as a distinct entity. We will be applying personalized medicine to individuals with Down syndrome in order to understand and develop biomarkers for increased risk of co-morbidities. Personalized medicine will change the "culture of intractability" of Down syndrome.

  12. Personalized medicine approaches in epilepsy.

    PubMed

    Walker, L E; Mirza, N; Yip, V L M; Marson, A G; Pirmohamed, M

    2015-02-01

    Epilepsy affects 50 million persons worldwide, a third of whom continue to experience debilitating seizures despite optimum anti-epileptic drug (AED) treatment. Twelve-month remission from seizures is less likely in female patients, individuals aged 11-36 years and those with neurological insults and shorter time between first seizure and starting treatment. It has been found that the presence of multiple seizures prior to diagnosis is a risk factor for pharmacoresistance and is correlated with epilepsy type as well as intrinsic severity. The key role of neuroinflammation in the pathophysiology of resistant epilepsy is becoming clear. Our work in this area suggests that high-mobility group box 1 isoforms may be candidate biomarkers for treatment stratification and novel drug targets in epilepsy. Furthermore, transporter polymorphisms contributing to the intrinsic severity of epilepsy are providing robust neurobiological evidence on an emerging theory of drug resistance, which may also provide new insights into disease stratification. Some of the rare genetic epilepsies enable treatment stratification through testing for the causal mutation, for example SCN1A mutations in patients with Dravet's syndrome. Up to 50% of patients develop adverse reactions to AEDs which in turn affects tolerability and compliance. Immune-mediated hypersensitivity reactions to AED therapy, such as toxic epidermal necrolysis, are the most serious adverse reactions and have been associated with polymorphisms in the human leucocyte antigen (HLA) complex. Pharmacogenetic screening for HLA-B*15:02 in Asian populations can prevent carbamazepine-induced Stevens-Johnson syndrome. We have identified HLA-A*31:01 as a potential risk marker for all phenotypes of carbamazepine-induced hypersensitivity with applicability in European and other populations. In this review, we explore the currently available key stratification approaches to address the therapeutic challenges in epilepsy.

  13. Personalized medicine: the impact on chemistry.

    PubMed

    Watkins, John; Marsh, Andrew; Taylor, Paul C; Singer, Donald R J

    2010-11-01

    An effective strategy for personalized medicine requires a major conceptual change in the development and application of therapeutics. In this article, we argue that further advances in this field should be made with reference to another conceptual shift, that of network pharmacology. We examine the intersection of personalized medicine and network pharmacology to identify strategies for the development of personalized therapies that are fully informed by network pharmacology concepts. This provides a framework for discussion of the impact personalized medicine will have on chemistry in terms of drug discovery, formulation and delivery, the adaptations and changes in ideology required and the contribution chemistry is already making. New ways of conceptualizing chemistry's relationship with medicine will lead to new approaches to drug discovery and hold promise of delivering safer and more effective therapies.

  14. Is personalized medicine achievable in obstetrics?

    PubMed

    Quinney, Sara K; Patil, Avinash S; Flockhart, David A

    2014-12-01

    Personalized medicine seeks to identify the right dose of the right drug for the right patient at the right time. Typically, individualization of therapy is based on the pharmacogenomic makeup of the individual and environmental factors that alter drug disposition and response. In addition to these factors, during pregnancy, a woman's body undergoes many changes that can impact the therapeutic efficacy of medications. Yet, there is minimal research regarding personalized medicine in obstetrics. Adoption of pharmacogenetic testing into the obstetrical care is dependent on evidence of analytical validity, clinical validity, and clinical utility. Here, we briefly present information regarding the potential utility of personalized medicine for treating the obstetric patient for pain with narcotics, hypertension, and preterm labor, and discuss the impediments of bringing personalized medicine to the obstetrical clinic.

  15. Is Personalized Medicine Achievable in Obstetrics?

    PubMed Central

    Quinney, Sara K; Flockhart, David A; Patil, Avinash S

    2014-01-01

    Personalized medicine seeks to identify the right dose of the right drug for the right patient at the right time. Typically, individualization of therapy is based on the pharmacogenomic make-up of the individual and environmental factors that alter drug disposition and response. In addition to these factors, during pregnancy a woman’s body undergoes many changes that can impact the therapeutic efficacy of medications. Yet, there is minimal research regarding personalized medicine in obstetrics. Adoption of pharmacogenetic testing into the obstetrical care is dependent on evidence of analytical validity, clinical validity, and clinical utility. Here, we briefly present information regarding the potential utility of personalized medicine for treating the obstetric patient for pain with narcotics, hypertension, and preterm labor and discuss the impediments of bringing personalized medicine to the obstetrical clinic. PMID:25282474

  16. Lexical fields of predictive and personalized medicine.

    PubMed

    Mathieu, Thierry; Bermont, Laurent; Boyer, Jean-Christophe; Versuyft, Céline; Evrard, Alexandre; Cuvelier, Isabelle; Couderc, Remy; Peoc'h, Katell

    2013-01-01

    With human genome mapping, the omics revolution and the empowering sequencing technologies developed at the turn of the century, the new goals in medicine are to switch from population medicine to individualized therapies, not only to cure diseases but also to prevent them. The purpose of this review by the pharmacogenetics and predictive medicine working group of the French clinical biology society (SFBC) is to situate in their correct context the notions of personalized medicine, pharmacogenetics, genetics and genomics, emphasizing their interactions and discussing their significance for researchers and clinicians.

  17. [Personalized medicine, privatized medicine? legal and public health stakes].

    PubMed

    Rial-Sebbag, Emmanuelle

    2014-11-01

    Personalized medicine is booming. It tends to provide a medical management "tailored" for groups of patients, or for one unique patient, but also to identify risk groups to develop public health strategies. In this context, some radicalization phenomenon can emerge, leading to not only personalized medicine but also privatized medicine, which can lead to a capture of the medical public resource. If the "privatization" of medicine is not limited to producing adverse effects, several potentially destabilizing phenomena for patients still remain. First, some objective factors, like the adjustment of scientific prerequisites, are emerging from personalized medicine practices (clinical trial, public health policy) and are interfering with the medical doctor/patient relationship. Another risk emerges for patients concomitantly to their demand for controlling their own health, in terms of patients' security although these risks are not clearly identified and not effectively communicated. These practices, related to a privatized medicine, develop within the healthcare system but also outside, and the government and legislators will have to take into account these new dimensions in drafting their future regulations and policies.

  18. Personalized medicine: from genotypes, molecular phenotypes and the quantified self, towards improved medicine.

    PubMed

    Dudley, Joel T; Listgarten, Jennifer; Stegle, Oliver; Brenner, Steven E; Parts, Leopold

    2015-01-01

    Advances in molecular profiling and sensor technologies are expanding the scope of personalized medicine beyond genotypes, providing new opportunities for developing richer and more dynamic multi-scale models of individual health. Recent studies demonstrate the value of scoring high-dimensional microbiome, immune, and metabolic traits from individuals to inform personalized medicine. Efforts to integrate multiple dimensions of clinical and molecular data towards predictive multi-scale models of individual health and wellness are already underway. Improved methods for mining and discovery of clinical phenotypes from electronic medical records and technological developments in wearable sensor technologies present new opportunities for mapping and exploring the critical yet poorly characterized "phenome" and "envirome" dimensions of personalized medicine. There are ambitious new projects underway to collect multi-scale molecular, sensor, clinical, behavioral, and environmental data streams from large population cohorts longitudinally to enable more comprehensive and dynamic models of individual biology and personalized health. Personalized medicine stands to benefit from inclusion of rich new sources and dimensions of data. However, realizing these improvements in care relies upon novel informatics methodologies, tools, and systems to make full use of these data to advance both the science and translational applications of personalized medicine.

  19. Personalized medicine for pathological circadian dysfunctions

    PubMed Central

    Skelton, Rachel L.; Kornhauser, Jon M.; Tate, Barbara A.

    2015-01-01

    The recent approval of a therapeutic for a circadian disorder has increased interest in developing additional medicines for disorders characterized by circadian disruption. However, previous experience demonstrates that drug development for central nervous system (CNS) disorders has a high failure rate. Personalized medicine, or the approach to identifying the right treatment for the right patient, has recently become the standard for drug development in the oncology field. In addition to utilizing Companion Diagnostics (CDx) that identify specific genetic biomarkers to prescribe certain targeted therapies, patient profiling is regularly used to enrich for a responsive patient population during clinical trials, resulting in fewer patients required for statistical significance and a higher rate of success for demonstrating efficacy and hence receiving approval for the drug. This personalized medicine approach may be one mechanism that could reduce the high clinical trial failure rate in the development of CNS drugs. This review will discuss current circadian trials, the history of personalized medicine in oncology, lessons learned from a recently approved circadian therapeutic, and how personalized medicine can be tailored for use in future clinical trials for circadian disorders to ultimately lead to the approval of more therapeutics for patients suffering from circadian abnormalities. PMID:26150790

  20. Personalized medicine for pathological circadian dysfunctions.

    PubMed

    Skelton, Rachel L; Kornhauser, Jon M; Tate, Barbara A

    2015-01-01

    The recent approval of a therapeutic for a circadian disorder has increased interest in developing additional medicines for disorders characterized by circadian disruption. However, previous experience demonstrates that drug development for central nervous system (CNS) disorders has a high failure rate. Personalized medicine, or the approach to identifying the right treatment for the right patient, has recently become the standard for drug development in the oncology field. In addition to utilizing Companion Diagnostics (CDx) that identify specific genetic biomarkers to prescribe certain targeted therapies, patient profiling is regularly used to enrich for a responsive patient population during clinical trials, resulting in fewer patients required for statistical significance and a higher rate of success for demonstrating efficacy and hence receiving approval for the drug. This personalized medicine approach may be one mechanism that could reduce the high clinical trial failure rate in the development of CNS drugs. This review will discuss current circadian trials, the history of personalized medicine in oncology, lessons learned from a recently approved circadian therapeutic, and how personalized medicine can be tailored for use in future clinical trials for circadian disorders to ultimately lead to the approval of more therapeutics for patients suffering from circadian abnormalities.

  1. DNA Aptamer Technology for Personalized Medicine

    PubMed Central

    Xing, Hang; Hwang, Kevin; Li, Ji; Torabi, Seyed-Fakhreddin; Lu, Yi

    2014-01-01

    This review highlights recent progress in developing DNA aptamers for personalized medicine, with more focus on in vivo studies for potential clinical applications. Examples include design of aptamers in combination with DNA nanostructures, nanomaterials, or microfluidic devices as diagnostic probes or therapeutic agents for cancers and other diseases. The use of aptamers as targeting agents in drug delivery is also covered. The advantages and future directions of such DNA aptamer-based technology for the continued development of personalized medicine are discussed. PMID:24791224

  2. Chasing Mendel: five questions for personalized medicine

    PubMed Central

    Joyner, Michael J; Prendergast, Franklyn G

    2014-01-01

    Ideas about personalized medicine are underpinned in part by evolutionary biology's Modern Synthesis. In this essay we link personalized medicine to the efforts of the early statistical investigators who quantified the heritability of human phenotype and then attempted to reconcile their observations with Mendelian genetics. As information about the heritability of common diseases was obtained, similar efforts were directed at understanding the genetic basis of disease phenotypes. These ideas were part of the rationale driving the Human Genome Project and subsequently the personalized medicine movement. In this context, we discuss: (1) the current state of the genotype–phenotype relationship in humans, (2) the common-disease–common-variant hypothesis, (3) the current ability of ‘omic’ information to inform clinical decision making, (4) emerging ideas about the therapeutic insight available from rare genetic variants, and (5) the social and behavioural barriers to the wider potential success of personalized medicine. There are significant gaps in knowledge as well as conceptual, intellectual, and philosophical limitations in each of these five areas. We then provide specific recommendations to mitigate these limitations and close by asking if it is time for the biomedical research community to ‘stop chasing Mendel?’ PMID:24882820

  3. Training the Future Leaders in Personalized Medicine

    PubMed Central

    Mason-Suares, Heather; Sweetser, David A.; Lindeman, Neal I.; Morton, Cynthia C.

    2016-01-01

    The era of personalized medicine has arrived, and with it a need for leaders in this discipline. This generation of trainees requires a cadre of new skill sets to lead the implementation of personalized medicine into mainstream healthcare. Traditional training programs no longer provide trainees with all the skills they will need to optimize implementation of this revolution now underway in medicine. Today’s trainees must manage clinical teams, act as clinical and molecular diagnostic consultants, train other healthcare professionals, teach future generations, and be knowledgeable about clinical trials to facilitate genomic-based therapies. To prepare trainees for the transition to junior faculty positions, contemporary genomic training programs must emphasize the development of these management, teaching, and clinical skills. PMID:26751479

  4. Training the Future Leaders in Personalized Medicine.

    PubMed

    Mason-Suares, Heather; Sweetser, David A; Lindeman, Neal I; Morton, Cynthia C

    2016-01-07

    The era of personalized medicine has arrived, and with it a need for leaders in this discipline. This generation of trainees requires a cadre of new skill sets to lead the implementation of personalized medicine into mainstream healthcare. Traditional training programs no longer provide trainees with all the skills they will need to optimize implementation of this revolution now underway in medicine. Today's trainees must manage clinical teams, act as clinical and molecular diagnostic consultants, train other healthcare professionals, teach future generations, and be knowledgeable about clinical trials to facilitate genomic-based therapies. To prepare trainees for the transition to junior faculty positions, contemporary genomic training programs must emphasize the development of these management, teaching, and clinical skills.

  5. Personalized medicine: is it a pharmacogenetic mirage?

    PubMed

    Shah, Rashmi R; Shah, Devron R

    2012-10-01

    The notion of personalized medicine has developed from the application of the discipline of pharmacogenetics to clinical medicine. Although the clinical relevance of genetically-determined inter-individual differences in pharmacokinetics is poorly understood, and the genotype-phenotype association data on clinical outcomes often inconsistent, officially approved drug labels frequently include pharmacogenetic information concerning the safety and/or efficacy of a number of drugs and refer to the availability of the pharmacogenetic test concerned. Regulatory authorities differ in their approach to these issues. Evidence emerging subsequently has generally revealed the pharmacogenetic information included in the label to be premature. Revised drugs labels, together with a flurry of other collateral activities, have raised public expectations of personalized medicine, promoted as 'the right drug at the right dose the first time.' These expectations place the prescribing physician in a dilemma and at risk of litigation, especially when evidence-based information on genotype-related dosing schedules is to all intent and purposes non-existent and guidelines, intended to improve the clinical utility of available pharmacogenetic information or tests, distance themselves from any responsibility. Lack of efficacy or an adverse drug reaction is frequently related to non-genetic factors. Phenoconversion, arising from drug interactions, poses another often neglected challenge to any potential success of personalized medicine by mimicking genetically-determined enzyme deficiency. A more realistic promotion of personalized medicine should acknowledge current limitations and emphasize that pharmacogenetic testing can only improve the likelihood of diminishing a specific toxic effect or increasing the likelihood of a beneficial effect and that application of pharmacogenetics to clinical medicine cannot adequately predict drug response in individual patients.

  6. Revitalizing Personalized Medicine: Respecting Biomolecular Complexities Beyond Gene Expression

    PubMed Central

    Jayachandran, D; Ramkrishna, U; Skiles, J; Renbarger, J; Ramkrishna, D

    2014-01-01

    Despite recent advancements in “omic” technologies, personalized medicine has not realized its fullest potential due to isolated and incomplete application of gene expression tools. In many instances, pharmacogenomics is being interchangeably used for personalized medicine, when actually it is one of the many facets of personalized medicine. Herein, we highlight key issues that are hampering the advancement of personalized medicine and highlight emerging predictive tools that can serve as a decision support mechanism for physicians to personalize treatments. PMID:24739991

  7. Theranostic barcoded nanoparticles for personalized cancer medicine

    PubMed Central

    Yaari, Zvi; da Silva, Dana; Zinger, Assaf; Goldman, Evgeniya; Kajal, Ashima; Tshuva, Rafi; Barak, Efrat; Dahan, Nitsan; Hershkovitz, Dov; Goldfeder, Mor; Roitman, Janna Shainsky; Schroeder, Avi

    2016-01-01

    Personalized medicine promises to revolutionize cancer therapy by matching the most effective treatment to the individual patient. Using a nanoparticle-based system, we predict the therapeutic potency of anticancer medicines in a personalized manner. We carry out the diagnostic stage through a multidrug screen performed inside the tumour, extracting drug activity information with single cell sensitivity. By using 100 nm liposomes, loaded with various cancer drugs and corresponding synthetic DNA barcodes, we find a correlation between the cell viability and the drug it was exposed to, according to the matching barcodes. Based on this screen, we devise a treatment protocol for mice bearing triple-negative breast-cancer tumours, and its results confirm the diagnostic prediction. We show that the use of nanotechnology in cancer care is effective for generating personalized treatment protocols. PMID:27830705

  8. Personalized medicine and the clinical laboratory

    PubMed Central

    Pinho, João Renato Rebello; Sitnik, Roberta; Mangueira, Cristóvão Luis Pitangueira

    2014-01-01

    Personalized medicine is the use of biomarkers, most of them molecular markers, for detection of specific genetic traits to guide various approaches for preventing and treating different conditions. The identification of several genes related to heredity, oncology and infectious diseases lead to the detection of genetic polymorphisms that are involved not only in different clinical progression of these diseases but also in variations in treatment response. Currently, it is possible to detect these polymorphisms using several methodologies: detection of single nucleotide polymorphisms using polymerase chain reaction methods; nucleic acid microarray detection; and nucleic acid sequencing with automatized DNA sequencers using Sanger-derived methods and new generation sequencing. Personalized medicine assays are directed towards detecting genetic variations that alter interactions of drugs with targets or the metabolic pathways of drugs (upstream and downstream) and can be utilized for the selection of drug formulations and detect different immunogenicities of the drug. Personalized medicine applications have already been described in different areas of Medicine and allow specific treatment approaches to be applied to each patient and pathology according to the results of these assays. The application of such a protocol demands an increasing interaction between the clinical laboratory and the clinical staff. For its implementation, a coordinated team composed of basic researchers and physicians highly specialized in their areas supported by a highly specialized team of clinical analysts particularly trained in molecular biology assays is necessary. PMID:25295459

  9. Personalized Proteomics: The Future of Precision Medicine.

    PubMed

    Duarte, Trevor T; Spencer, Charles T

    2016-01-01

    Medical diagnostics and treatment has advanced from a one size fits all science to treatment of the patient as a unique individual. Currently, this is limited solely to genetic analysis. However, epigenetic, transcriptional, proteomic, posttranslational modifications, metabolic, and environmental factors influence a patient's response to disease and treatment. As more analytical and diagnostic techniques are incorporated into medical practice, the personalized medicine initiative transitions to precision medicine giving a holistic view of the patient's condition. The high accuracy and sensitivity of mass spectrometric analysis of proteomes is well suited for the incorporation of proteomics into precision medicine. This review begins with an overview of the advance to precision medicine and the current state of the art in technology and instrumentation for mass spectrometry analysis. Thereafter, it focuses on the benefits and potential uses for personalized proteomic analysis in the diagnostic and treatment of individual patients. In conclusion, it calls for a synthesis between basic science and clinical researchers with practicing clinicians to design proteomic studies to generate meaningful and applicable translational medicine. As clinical proteomics is just beginning to come out of its infancy, this overview is provided for the new initiate.

  10. Personalized Proteomics: The Future of Precision Medicine

    PubMed Central

    Duarte, Trevor T.; Spencer, Charles T.

    2016-01-01

    Medical diagnostics and treatment has advanced from a one size fits all science to treatment of the patient as a unique individual. Currently, this is limited solely to genetic analysis. However, epigenetic, transcriptional, proteomic, posttranslational modifications, metabolic, and environmental factors influence a patient’s response to disease and treatment. As more analytical and diagnostic techniques are incorporated into medical practice, the personalized medicine initiative transitions to precision medicine giving a holistic view of the patient’s condition. The high accuracy and sensitivity of mass spectrometric analysis of proteomes is well suited for the incorporation of proteomics into precision medicine. This review begins with an overview of the advance to precision medicine and the current state of the art in technology and instrumentation for mass spectrometry analysis. Thereafter, it focuses on the benefits and potential uses for personalized proteomic analysis in the diagnostic and treatment of individual patients. In conclusion, it calls for a synthesis between basic science and clinical researchers with practicing clinicians to design proteomic studies to generate meaningful and applicable translational medicine. As clinical proteomics is just beginning to come out of its infancy, this overview is provided for the new initiate. PMID:27882306

  11. Personalized medicine: understanding probabilities and managing expectations.

    PubMed

    Laksman, Zachary; Detsky, Allan S

    2011-02-01

    Personalized medicine promises to represent a transformation in clinical care that will be ushered in by the unprecedented growth and development in the field of human genetics. Further examination of the scientific foundations of this new hope reveals a great number of challenges that lie ahead. While basic science research feverishly races to produce solutions, we continue to wait for the translation of deliverables. Products that have and will come to market may leave our clinical communities and systems exposed and unprepared. At each step, from basic science research to infrastructure development, a great deal of creativity and investment are required before the arsenal of more personalized tools can be assimilated into our current models of health care. This commentary seeks to share perspectives on the current status of personalized medicine from the vantage point of several potential investors, and integrate them into a common set of goals and understanding. We conclude that the stylized model of personalized medicine is more akin to a marketing tool than a literal prediction of the future.

  12. Individualized medicine enabled by genomics in Saudi Arabia

    PubMed Central

    2015-01-01

    The biomedical research sector in Saudi Arabia has recently received special attention from the government, which is currently supporting research aimed at improving the understanding and treatment of common diseases afflicting Saudi Arabian society. To build capacity for research and training, a number of centres of excellence were established in different areas of the country. Among these, is the Centre of Excellence in Genomic Medicine Research (CEGMR) at King Abdulaziz University, Jeddah, with its internationally ranked and highly productive team performing translational research in the area of individualized medicine. Here, we present a panorama of the recent trends in different areas of biomedical research in Saudi Arabia drawing from our vision of where genomics will have maximal impact in the Kingdom of Saudi Arabia. We describe advances in a number of research areas including; congenital malformations, infertility, consanguinity and pre-implantation genetic diagnosis, cancer and genomic classifications in Saudi Arabia, epigenetic explanations of idiopathic disease, and pharmacogenomics and personalized medicine. We conclude that CEGMR will continue to play a pivotal role in advances in the field of genomics and research in this area is facing a number of challenges including generating high quality control data from Saudi population and policies for using these data need to comply with the international set up. PMID:25951871

  13. Personalized Medicine and Human Genetic Diversity

    PubMed Central

    Lu, Yi-Fan; Goldstein, David B.; Angrist, Misha; Cavalleri, Gianpiero

    2014-01-01

    Human genetic diversity has long been studied both to understand how genetic variation influences risk of disease and infer aspects of human evolutionary history. In this article, we review historical and contemporary views of human genetic diversity, the rare and common mutations implicated in human disease susceptibility, and the relevance of genetic diversity to personalized medicine. First, we describe the development of thought about diversity through the 20th century and through more modern studies including genome-wide association studies (GWAS) and next-generation sequencing. We introduce several examples, such as sickle cell anemia and Tay–Sachs disease that are caused by rare mutations and are more frequent in certain geographical populations, and common treatment responses that are caused by common variants, such as hepatitis C infection. We conclude with comments about the continued relevance of human genetic diversity in medical genetics and personalized medicine more generally. PMID:25059740

  14. Devices to enable persons with amputation to participate in sports.

    PubMed

    Rubin, G; Fleiss, D

    1983-01-01

    Participation in physically challenging competitive sports is as important to some persons with amputations as are work and leisure, both of which are ordinarily of a sedentary character. Sports participation contributes not only to physical but also to psychologic well-being. The manner in which a prosthetic clinic team can aid in this aspect of rehabilitation is discussed. Some of the more sophisticated prostheses prescribed to enable participation in sports include above-knee and below-knee water-resistant prostheses for swimmers, an adjustable foot-ankle unit for the proficient swimmer and scuba diver, prostheses and special equipment for skiers, special devices for golfers with upper extremity or lower extremity amputations, and various commercially available terminal devices to enable persons with an upper extremity amputation to bowl, to hold a fishing pole and reel, to play baseball, to hold tools, to fire a pistol, and to swim.

  15. Blood Transcriptomics and Metabolomics for Personalized Medicine

    DTIC Science & Technology

    2015-10-31

    online 31 October 2015 Keywords: Transcriptomics Metabolomics Blood systems biology Personalized medicine Data integrationMolecular analysis of blood...samples is pivotal to clinical diagnosis and has been intensively investigated since the rise of systems biology . Recent developments have opened new...article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).Contents1. An overdue review of “blood systems biology

  16. Molecular Dynamics: New Frontier in Personalized Medicine.

    PubMed

    Sneha, P; Doss, C George Priya

    2016-01-01

    The field of drug discovery has witnessed infinite development over the last decade with the demand for discovery of novel efficient lead compounds. Although the development of novel compounds in this field has seen large failure, a breakthrough in this area might be the establishment of personalized medicine. The trend of personalized medicine has shown stupendous growth being a hot topic after the successful completion of Human Genome Project and 1000 genomes pilot project. Genomic variant such as SNPs play a vital role with respect to inter individual's disease susceptibility and drug response. Hence, identification of such genetic variants has to be performed before administration of a drug. This process requires high-end techniques to understand the complexity of the molecules which might bring an insight to understand the compounds at their molecular level. To sustenance this, field of bioinformatics plays a crucial role in revealing the molecular mechanism of the mutation and thereby designing a drug for an individual in fast and affordable manner. High-end computational methods, such as molecular dynamics (MD) simulation has proved to be a constitutive approach to detecting the minor changes associated with an SNP for better understanding of the structural and functional relationship. The parameters used in molecular dynamic simulation elucidate different properties of a macromolecule, such as protein stability and flexibility. MD along with docking analysis can reveal the synergetic effect of an SNP in protein-ligand interaction and provides a foundation for designing a particular drug molecule for an individual. This compelling application of computational power and the advent of other technologies have paved a promising way toward personalized medicine. In this in-depth review, we tried to highlight the different wings of MD toward personalized medicine.

  17. Intelligent security and privacy solutions for enabling personalized telepathology

    PubMed Central

    2011-01-01

    Starting with the paradigm change of health systems towards personalized health services, the paper introduces the technical paradigms to be met for enabling ubiquitous pHealth including ePathology. The system-theoretical, architecture-centric approach to mobile, pervasive and autonomous solutions has to be based on an open component system framework such as the Generic Component Model. The crucial challenge to be met for comprehensive interoperability is multi-disciplinary knowledge representation, which must be integrated into the aforementioned framework. The approach is demonstrated for security and privacy services fundamental for any eHealth or ePathology environment. PMID:21489199

  18. Intelligent security and privacy solutions for enabling personalized telepathology.

    PubMed

    Blobel, Bernd

    2011-03-30

    Starting with the paradigm change of health systems towards personalized health services, the paper introduces the technical paradigms to be met for enabling ubiquitous pHealth including ePathology. The system-theoretical, architecture-centric approach to mobile, pervasive and autonomous solutions has to be based on an open component system framework such as the Generic Component Model. The crucial challenge to be met for comprehensive interoperability is multi-disciplinary knowledge representation, which must be integrated into the aforementioned framework. The approach is demonstrated for security and privacy services fundamental for any eHealth or ePathology environment.

  19. Electrodeless electrohydrodynamic printing of personalized medicines

    NASA Astrophysics Data System (ADS)

    Elele, Ezinwa; Shen, Yueyang; Khusid, Boris

    2010-12-01

    We report on a method for drop-on-demand printing of personalized medicines. A fluid is infused into an electrically insulating nozzle to form a pendant drop that will serve as a floating electrode that is capacitively coupled to external electrodes during a voltage pulse. An electric force is directly applied to the pendant drop to produce a sessile drop on an insulating polymer film. Versatility is proved on fluids spanning over three orders of magnitude in viscosity and conductivity. Scaling analysis captures the essential physics of drop dynamics and provides critical design guideline.

  20. Implementing personalized medicine in a cancer center.

    PubMed

    Fenstermacher, David A; Wenham, Robert M; Rollison, Dana E; Dalton, William S

    2011-01-01

    In 2006, the Moffitt Cancer Center partnered with patients, community clinicians, industry, academia, and 17 hospitals in the United States to begin a personalized cancer care initiative called Total Cancer Care. Total Cancer Care was designed to collect tumor specimens and clinical data throughout a patient's lifetime, with the goal of finding "the right treatment, for the right patient, at the right time." Because Total Cancer Care is a partnership with the patient and involves collection of clinical data and tumor specimens for research purposes, a formal protocol and patient consent process was developed, and an information technology platform was constructed to provide a robust "warehouse" for clinical and molecular profiling data. To date, more than 76,000 cancer patients from Moffitt and consortium medical centers have been enrolled in the protocol. The Total Cancer Care initiative has developed many of the capabilities and resources that are building the foundation of personalized medicine.

  1. Enabling Disabled Persons to Gain Access to Digital Media

    NASA Technical Reports Server (NTRS)

    Beach, Glenn; OGrady, Ryan

    2011-01-01

    A report describes the first phase in an effort to enhance the NaviGaze software to enable profoundly disabled persons to operate computers. (Running on a Windows-based computer equipped with a video camera aimed at the user s head, the original NaviGaze software processes the user's head movements and eye blinks into cursor movements and mouse clicks to enable hands-free control of the computer.) To accommodate large variations in movement capabilities among disabled individuals, one of the enhancements was the addition of a graphical user interface for selection of parameters that affect the way the software interacts with the computer and tracks the user s movements. Tracking algorithms were improved to reduce sensitivity to rotations and reduce the likelihood of tracking the wrong features. Visual feedback to the user was improved to provide an indication of the state of the computer system. It was found that users can quickly learn to use the enhanced software, performing single clicks, double clicks, and drags within minutes of first use. Available programs that could increase the usability of NaviGaze were identified. One of these enables entry of text by using NaviGaze as a mouse to select keys on a virtual keyboard.

  2. Molecular medicine: a path towards a personalized medicine.

    PubMed

    Miranda, Debora Marques de; Mamede, Marcelo; Souza, Bruno Rezende de; Almeida Barros, Alexandre Guimarães de; Magno, Luiz Alexandre; Alvim-Soares Jr, Antônio; Rosa, Daniela Valadão; Castro Jr, Célio José de; Malloy-Diniz, Leandro; Gomez, Marcus Vinícius; Marco, Luiz Armando De; Correa, Humberto; Romano-Silva, Marco Aurélio

    2012-03-01

    Psychiatric disorders are among the most common human illnesses; still, the molecular and cellular mechanisms underlying their complex pathophysiology remain to be fully elucidated. Over the past 10 years, our group has been investigating the molecular abnormalities in major signaling pathways involved in psychiatric disorders. Recent evidences obtained by the Instituto Nacional de Ciência e Tecnologia de Medicina Molecular (National Institute of Science and Technology - Molecular Medicine, INCT-MM) and others using behavioral analysis of animal models provided valuable insights into the underlying molecular alterations responsible for many complex neuropsychiatric disorders, suggesting that "defects" in critical intracellular signaling pathways have an important role in regulating neurodevelopment, as well as in pathophysiology and treatment efficacy. Resources from the INCT have allowed us to start doing research in the field of molecular imaging. Molecular imaging is a research discipline that visualizes, characterizes, and quantifies the biologic processes taking place at cellular and molecular levels in humans and other living systems through the results of image within the reality of the physiological environment. In order to recognize targets, molecular imaging applies specific instruments (e.g., PET) that enable visualization and quantification in space and in real-time of signals from molecular imaging agents. The objective of molecular medicine is to individualize treatment and improve patient care. Thus, molecular imaging is an additional tool to achieve our ultimate goal.

  3. Personalized medicine. Closing the gap between knowledge and clinical practice.

    PubMed

    Anaya, Juan-Manuel; Duarte-Rey, Carolina; Sarmiento-Monroy, Juan C; Bardey, David; Castiblanco, John; Rojas-Villarraga, Adriana

    2016-08-01

    Personalized medicine encompasses a broad and evolving field informed by a patient distinctive information and biomarker profile. Although terminology is evolving and some semantic interpretations exist (e.g., personalized, individualized, precision), in a broad sense personalized medicine can be coined as: "To practice medicine as it once used to be in the past using the current biotechnological tools." A humanized approach to personalized medicine would offer the possibility of exploiting systems biology and its concept of P5 medicine, where predictive factors for developing a disease should be examined within populations in order to establish preventive measures on at-risk individuals, for whom healthcare should be personalized and participatory. Herein, the process of personalized medicine is presented together with the options that can be offered in health care systems with limited resources for diseases like rheumatoid arthritis and type 1 diabetes.

  4. The promise of epigenetics in personalized medicine.

    PubMed

    Weber, Wendell W

    2010-12-01

    Numerous preclinical and clinical trials, with older as well as some newer drugs, have demonstrated the targeting of aberrant epigenetic marks to be a viable means of preventing and treating certain human disorders, including myelodysplastic and leukemic syndromes and various hemoglobinopathies. These findings are encouraging, and although the risks associated with such therapy are largely unknown, precise maps of epigenetic marks are becoming increasingly available through advancements in sequencing protocols that combine chromatin immunoprecipitation and gene expression analyses. Indeed, progress in understanding gene regulation at promoter regions and chromatin organization in health and disease has been substantial. New insights into the proteins that are targeted by therapeutic agents that alter epigenetic programs may provide important inroads into personalized medicine.

  5. Personalized Medicine: Pharmacogenomics and Drug Development.

    PubMed

    Mirsadeghi, Somayeh; Larijani, Bagher

    2017-03-01

    Personalized medicine aims is to supply the proper drug to the proper patient within the right dose. Pharmacogenomics (PGx) is to recognize genetic variants that may influence drug efficacy and toxicity. All things considered, the fields cover a wide area, including basic drug discovery researches, the genetic origin of pharmacokinetics and pharmacodynamics, novel drug improvement, patient genetic assessment and clinical patient administration. At last, the objective of Pharmacogenomics is to anticipate a patient's genetic response to a particular drug as a way of presenting the best possible medical treatment. By predicting the drug response of an individual, it will be possible to increase the success of therapies and decrease the incidence of adverse side effect.

  6. Recent advances in personalized lung cancer medicine

    PubMed Central

    Okimoto, Ross A; Bivona, Trever G

    2014-01-01

    The identification of molecular subtypes of non-small-cell lung cancer has transformed the clinical management of this disease. This is best exemplified by the clinical success of targeting the EGFR or ALK with tyrosine kinase inhibitors in the front-line setting. Our ability to further improve patient outcomes with biomarker-based targeted therapies will depend on a more comprehensive genetic platform that can rationally interrogate the cancer genome of an individual patient. Novel technologies, including multiplex genotyping and next-generation sequencing are rapidly evolving and will soon challenge the oncologist with a wealth of genetic information for each patient. Although there are many barriers to overcome, the integration of these genetic platforms into clinical care has the potential to transform the management of lung cancer through improved molecular categorization, patient stratification, and drug development, thereby, improving clinical outcomes through personalized lung cancer medicine. PMID:25506379

  7. Personalized medicine: boon or budget-buster?

    PubMed

    Dean, Charles E

    2009-05-01

    While the development of personalized or molecular medicine is a laudable goal, there remain multiple barriers to its implementation. For example, little is known about the functions of noncoding regions of DNA, as well as the interplay of drug response, environmental factors, and the patient's genetic profile. In addition, there is a constant influx of new information on genetic factors such as epigenetic variation that could further complicate the development of medications based on the genetic profile, as well as the cost of profiling. However, assuming that clinically relevant genetic factors will be discovered and that drugs can be developed based on the molecular changes induced by those genetic factors, I suggest that the costs involved may substantially exceed the savings brought about by abandoning our current "one drug fits all" approach. While there is no doubt that our current approach is inefficient and expensive, remarkably little attention has been paid to the potential costs of molecular medicine. Given the current economic crisis, the time is ripe for a debate on this issue.

  8. Progress towards personalized medicine for ameloblastoma.

    PubMed

    Gomes, Carolina C; Diniz, Marina G; Gomez, Ricardo S

    2014-04-01

    Ameloblastoma is a locally infiltrative benign odontogenic neoplasm. Tumours may be large, destructive and recurrent, requiring radical surgery with associated facial deformity and morbidity. The molecular pathogenesis of this tumour has been unclear, retarding the development of non-invasive gene-targeted therapies. In a recent paper in this journal, Kurppa et al. [4] showed that EGFR-targeted therapy blocked cell proliferation in an ameloblastoma primary cell culture. That this therapy was not effective in another primary cell culture led to the discovery of the oncogenic BRAF V600E mutation in a high proportion (63%) of ameloblastoma samples. By defining two separate pathways, both of which can be specifically targeted, these findings are an important step towards personalized medicine of ameloblastoma. We discuss the findings in the broader context of ameloblastoma, as well as the effects of tumour microenvironment and molecular heterogeneity that need to be taken into account when considering the use of personalized therapies based on specific genetic mutations in individual patients.

  9. Personalized medicine in Alzheimer's disease and depression.

    PubMed

    Souslova, Tatiana; Marple, Teresa C; Spiekerman, A Michael; Mohammad, Amin A

    2013-11-01

    Latest research in the mental health field brings new hope to patients and promises to revolutionize the field of psychiatry. Personalized pharmacogenetic tests that aid in diagnosis and treatment choice are now becoming available for clinical practice. Amyloid beta peptide biomarkers in the cerebrospinal fluid of patients with Alzheimer's disease are now available. For the first time, radiologists are able to visualize amyloid plaques specific to Alzheimer's disease in live patients using Positron Emission Tomography-based tests approved by the FDA. A novel blood-based assay has been developed to aid in the diagnosis of depression based on activation of the HPA axis, metabolic, inflammatory and neurochemical pathways. Serotonin reuptake inhibitors have shown increased remission rates in specific ethnic subgroups and Cytochrome P450 gene polymorphisms can predict antidepressant tolerability. The latest research will help to eradicate "trial and error" prescription, ushering in the most personalized medicine to date. Like all major medical breakthroughs, integration of new algorithms and technologies requires sound science and time. But for many mentally ill patients, diagnosis and effective therapy cannot happen fast enough. This review will describe the newest diagnostic tests, treatments and clinical studies for the diagnosis and treatment of Alzheimer's disease and unipolar, major depressive disorder.

  10. Systems Biology of Metabolism: A Driver for Developing Personalized and Precision Medicine.

    PubMed

    Nielsen, Jens

    2017-03-07

    Systems biology uses mathematical models to analyze large datasets and simulate system behavior. It enables integrative analysis of different types of data and can thereby provide new insight into complex biological systems. Here will be discussed the challenges of using systems medicine for advancing the development of personalized and precision medicine to treat metabolic diseases like insulin resistance, obesity, NAFLD, NASH, and cancer. It will be illustrated how the concept of genome-scale metabolic models can be used for integrative analysis of big data with the objective of identifying novel biomarkers that are foundational for personalized and precision medicine.

  11. Enabling personal genomics with an explicit test of epistasis.

    PubMed

    Greene, Casey S; Himmelstein, Daniel S; Nelson, Heather H; Kelsey, Karl T; Williams, Scott M; Andrew, Angeline S; Karagas, Margaret R; Moore, Jason H

    2010-01-01

    test. We also show that the test has the appropriate size or type I error rate of approximately 0.05. We then apply MDR with the new explicit test of epistasis to a large genetic study of bladder cancer and show that a previously reported nonlinear interaction between is indeed significant, even after considering the strong additive effect of smoking in the model. Finally, we evaluated the power of the explicit test of epistasis to detect the nonlinear interaction between two XPD gene polymorphisms by simulating data from the MDR model of bladder cancer susceptibility. The results of this study provide for the first time a simple method for explicitly testing epistasis or gene-gene interaction effects in genetic association studies. Although we demonstrated the method with MDR, an important advantage is that it can be combined with any modeling approach. The explicit test of epistasis brings us a step closer to the type of routine gene-gene interaction analysis that is needed if we are to enable personal genomics.

  12. Personalized medicine: CCO's vision, accomplishments and future plans.

    PubMed

    Guo, Jennifer; Kamel-Reid, Suzanne; Rutherford, Michael; Hart, Jennifer; Melamed, Saul; Pollett, Aaron

    2015-01-01

    Personalized medicine is a rapidly expanding field, with the potential to improve patient care. Its benefits include increasing efficiency in cancer screening, diagnosis and treatment through early detection, targeted therapy and identifying individuals with an underlying genetic risk for cancer or adverse outcomes. Through the work of Cancer Care Ontario (CCO)'s Pathology and Laboratory Medicine Program, a number of initiatives have been undertaken to support developments in personalized medicine. In keeping with the momentum of recent accomplishments, CCO has led the formation of the Personalized Medicine Steering Committee to develop a comprehensive provincial genetics strategy for the future of cancer care.

  13. Personalized medicine: a paradigm for a sustainable pharmaceutical industry?

    PubMed

    Chackalamannil, Samuel; Desai, Manoj C

    2009-07-01

    Personalized medicine is a custom-tailored approach to patient treatment based on individual genetic traits. In personalized medicine, a patient group is characterized by a clinical biomarker that has been correlated to a differential response to drug treatment. During the past decade, several developments in the understanding of the structure and function of the human genome have occurred that bring personalized medicine closer to becoming a reality. The promise of personalized medicine lies in a clinical biomarker-driven patient stratification, and focused smaller-sized clinical trials that result in a shorter development time and reduced overall development cost. Personalized medicine has the potential to offer a new business model for the pharmaceutical industry by providing a more efficient drug discovery process with reduced cost.

  14. Nanotheranostics in evidence based personalized medicine.

    PubMed

    Sharma, Sushil

    2014-01-01

    Efficient drug delivery systems are exceedingly important for novel drug discovery. The evidence-based personalized medicine (EBPM) promises to deliver the right drug at the right time to a right patient as it covers clinicallysignificant genetic predisposition and chronopharmacological aspects of nanotheranostics. Recently nanotechnology has provided clinically-significant information at the cellular, molecular, and genetic level to facilitate evidence-based personalized treatment. Particularly drug encapsulation in pegylated liposomes has improved pharmacodynamics of cancer, cardiovascular diseases, and neurodegenerative diseases. Long-circulating liposomes and block copolymers concentrate slowly via enhanced permeability and retention (EPR) effect in the solid tumors and are highly significant for the drug delivery in cancer chemotherapeutics. Selective targeting of siRNA and oligonucleotides to tumor cells with a potential to inhibit multi-drug resistant (MDR) malignancies has also shown promise. In addition, implantable drug delivery devices have improved the treatment of several chronic diseases. Recently, microRNA, metallothioneins (MTs), α-synuclein index, and Charnoly body (CB) have emerged as novel drug discovery biomarkers. Hence CB antagonists-loaded ROSscavenging targeted nanoparticles (NPs) may be developed for the treatment of neurodegenerative and cardiovascular diseases. Nonspecific induction of CBs in the hyper-proliferative cells may cause alopecia, gastrointestinal tract (GIT) symptoms, myelosuppression, neurotoxicity, and infertility. Therefore selective CB agonists may be developed to augment cancer stem cell specific CB formation to eradicate MDR malignancies with minimum or no adverse effects. This review highlights recent advances on safe, economical, and effective treatment of neurodegenerative diseases, cardiovascular diseases, and cancer by adopting emerging nanotheranostic strategies to accomplish EBPM.

  15. Citizens' perspectives on personalized medicine: a qualitative public deliberation study.

    PubMed

    Bombard, Yvonne; Abelson, Julia; Simeonov, Dorina; Gauvin, Francois-Pierre

    2013-11-01

    Our objective was to explore citizens' informed and reasoned values and expectations of personalized medicine, a timely yet novel genomics policy issue. A qualitative, public deliberation study was undertaken using a citizens' reference panel on health technologies, established to provide input to the health technology assessment process in Ontario, Canada. The citizens' panel consisted of five women and nine men, aged 18-71 years, with one member selected from each health authority region. There were shared expectations among the citizens' panel members for the potential of personalized medicine technologies to improve care, provided they are deemed clinically valid and effective. These expectations were tempered by concerns about value for money and the possibility that access to treatment may be limited by personalized medicine tests used to stratify patients. Although they questioned the presumed technological imperative presented by personalized medicine technologies, they called for increased efforts to prepare the health-care system to effectively integrate these technologies. This study represents an early but important effort to explore public values toward personalized medicine. This study also provides evidence of the public's ability to form coherent judgments about a new policy issue. Concerned that personalized tests might be used to ration care, they suggested that treatment should be made available if patients wanted it, irrespective of tests that indicate little benefit. This issue raises clinical and policy challenges that may undermine the value of personalized medicine. Further efforts to deliberate with the public are warranted to inform effective, efficient and equitable translation of personalized medicine.

  16. [Immunology and personalized medicine in oncology].

    PubMed

    Zinzindohoué, Franck; Zeitoun, Guy; Berger, Anne; Todosi, Ana-Maria; Marliot, Florence; Lagorce, Christine; Galon, Jérôme; Pagès, Franck

    2014-06-01

    The comprehension of "what cancer is" was bespoke these two last decades, switching from the traditional centro-cellular vision of cancer to a new holistic vision which integrates the tumor microenvironment and its immune component. Although in both visions, the result is, in fine, the emergence of a clone of cancer cells whose genome is modified, the genesis of the emergence of this clone and of its expansion is quite different offering a new explanatory framework and allowing the design of new predictive bio-markers as well as the development of innovative therapies. Recent data demonstrate that the immune infiltrate of the tumor is determinant for the outcome of patients bearing a solid cancer. For the first time, patient' prognosis can be estimated, not only by the assessment of tumor criteria (TNM classification, genetic disorders) but also by the evaluation of the immune component of the tumor microenvironment, using novel methodologies such as the 'Immunoscore'. Taking account of parameters derived from the reaction of the host against his tumor is an additional step towards a so-called Personalized Medicine in patients with cancer.

  17. Ethical Issues Surrounding Personalized Medicine: A Literature Review.

    PubMed

    Salari, Pooneh; Larijani, Bagher

    2017-03-01

    More than a decade ago, personalized medicine was presented in modern medicine. Personalized medicine means that the right drug should be prescribed for the right patient based on genetic data. No doubt is developing medical sciences, and its shift into personalized medicine complicates ethical challenges more than before. In this review, we categorized all probable ethical considerations of personalized medicine in research and development and service provision. Based on our review, extensive changes in healthcare system including ethical changes are needed to overcome the ethical obstacles including knowledge gap and informed consent, privacy and confidentiality and availability of healthcare services. Furthermore social benefit versus science development and individual benefit should be balanced. Therefore guidelines and regulations should be compiled to represent the ethical framework; also ethical decision making should be day-to-day and individualized.

  18. [The invention of personalized medicine, between technological upheavals and utopia].

    PubMed

    Billaud, Marc; Guchet, Xavier

    2015-01-01

    The idea of personalized medicine raises a series of questions. If one considers that the physician takes into account the uniqueness of his patient in the frame of the medical consultation, is the definition of medicine as "personalized" not a pleonasm? If not, why has this ambiguous denomination been adopted? In addition, is this form of medicine a novel discipline capable of revolutionizing therapeutic approaches as claimed in its accompanying discourses or is it in continuity with the molecular conception of biomedicine? Rather than attempting to directly answer these questions, we focused our attention on the organizing concepts, the technological breakthroughs and the transformations in medical practices that characterize this medicine. Following this brief analysis, it appears that the choice of a term as equivocal as personalized medicine and the emphasis on the antagonistic notions of revolution and continuity in medicine are the signs of reshuffling that is emerging between actors in the health care system, in academia and in pharmaceutical companies.

  19. [Lexical fields of predictive and personalized medicine].

    PubMed

    Mathieu, Thierry; Bermont, Laurent; Boyer, Jean-Christophe; Versuyft, Céline; Evrard, Alexandre; Cuvelier, Isabelle; Couderc, Remy; Peoc'h, Katell

    2012-01-01

    After human genome mapping, omics revolution and empowering sequencing technologies developed at the turn of the century, new deals are to switch from population medicine to individual therapies, from curing the disease to preventing it. This review by the pharmacogenetics and predictive medicine working group of the French clinical biology society (SFBC) aims at placing into perspective the notions of tailored medicine, pharmacogenetics, genetics and genomics, emphasizing their interactions and discussing their signifiance according to researchers and to clinicians.

  20. Clinical applications of Personalized Medicine: a new paradigm and challenge.

    PubMed

    Di Sanzo, Mariantonia; Fineschi, Vittorio; Borro, Marina; La Russa, Raffaele; Santurro, Alessandro; Scopetti, Matteo; Simmaco, Maurizio; Frati, Paola

    2017-02-23

    The personalized medicine is an emergent and rapidly developing method of clinical practice that uses new technologies to provide decisions in regard to the prediction, prevention, diagnosis and treatment of disease. The continue evolution of technology and the developments in molecular diagnostics and genomic analysis increased the possibility of an even more understanding and interpretation of the human genome and exome, allowing a "personalized" approach to clinical care, so that the concepts of "Systems Medicine" and "System Biology" are increasingly actual. The purpose of this study is to evaluate the personalized medicine about its indications and benefits, actual clinical applications and future perspectives as well as its issues and health care implications. It was made a careful review of the scientific literature on this field that highlighted the applicability and usefulness of this new medical approach as well as the fact that personalized medicine strategy is even more increasing in numerous fields of applications.

  1. Enabling Self-Monitoring Data Exchange in Participatory Medicine.

    PubMed

    Lopez-Campos, Guillermo; Ofoghi, Bahadorreza; Martin-Sanchez, Fernando

    2015-01-01

    The development of new methods, devices and apps for self-monitoring have enabled the extension of the application of these approaches for consumer health and research purposes. The increase in the number and variety of devices has generated a complex scenario where reporting guidelines and data exchange formats will be needed to ensure the quality of the information and the reproducibility of results of the experiments. Based on the Minimal Information for Self Monitoring Experiments (MISME) reporting guideline we have developed an XML format (MISME-ML) to facilitate data exchange for self monitoring experiments. We have also developed a sample instance to illustrate the concept and a Java MISME-ML validation tool. The implementation and adoption of these tools should contribute to the consolidation of a set of methods that ensure the reproducibility of self monitoring experiments for research purposes.

  2. Genomic Discoveries and Personalized Medicine in Neurological Diseases.

    PubMed

    Zhang, Li; Hong, Huixiao

    2015-12-07

    In the past decades, we have witnessed dramatic changes in clinical diagnoses and treatments due to the revolutions of genomics and personalized medicine. Undoubtedly we also met many challenges when we use those advanced technologies in drug discovery and development. In this review, we describe when genomic information is applied in personal healthcare in general. We illustrate some case examples of genomic discoveries and promising personalized medicine applications in the area of neurological disease particular. Available data suggest that individual genomics can be applied to better treat patients in the near future.

  3. Personalized Medicine in Respiratory Disease: Role of Proteomics.

    PubMed

    Priyadharshini, V S; Teran, Luis M

    2016-01-01

    Respiratory diseases affect humanity globally, with chronic lung diseases (e.g., asthma, chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis, among others) and lung cancer causing extensive morbidity and mortality. These conditions are highly heterogeneous and require an early diagnosis. However, initial symptoms are nonspecific, and the clinical diagnosis is made late frequently. Over the last few years, personalized medicine has emerged as a medical care approach that uses novel technology aiming to personalize treatments according to the particular patient's medical needs. This review highlights the contributions of proteomics toward the understanding of personalized medicine in respiratory disease and its potential applications in the clinic.

  4. Implementing personalized medicine with asymmetric information on prevalence rates.

    PubMed

    Antoñanzas, Fernando; Juárez-Castelló, Carmelo A; Rodríguez-Ibeas, Roberto

    2016-12-01

    Although personalized medicine is becoming the new paradigm to manage some diseases, the economics of personalized medicine have only focused on assessing the efficiency of specific treatments, lacking a theoretical framework analyzing the interactions between pharmaceutical firms and healthcare systems leading to the implementation of personalized treatments. We model the interaction between the hospitals and the manufacturer of a new treatment as an adverse selection problem where the firm does not have perfect information on the prevalence across hospitals of the genetic characteristics of the patients making them eligible to receive a new treatment. As a result of the model, hospitals with high prevalence rates benefit from the information asymmetry only when the standard treatment is inefficient when applied to the patients eligible to receive the new treatment. Otherwise, information asymmetry has no value. Personalized medicine may be fully or partially implemented depending on the proportion of high prevalence hospitals.

  5. Genomic insights into ayurvedic and western approaches to personalized medicine.

    PubMed

    Prasher, Bhavana; Gibson, Greg; Mukerji, Mitali

    2016-03-01

    Ayurveda, an ancient Indian system of medicine documented and practised since 1500 B.C., follows a systems approach that has interesting parallels with contemporary personalized genomic medicine approaches to the understanding and management of health and disease. It is based on the trisutra, which are the three aspects of causes, features and therapeutics that are interconnected through a common organizing principle termed 'tridosha'. Tridosha comprise three ascertainable physiological entities; vata (kinetic), pitta (metabolic) and kapha (potential) that are pervasive across systems, work in conjunction with each other, respond to the external environment and maintain homeostasis. Each individual is born with a specific proportion of tridosha that are not only genetically determined but also influenced by the environment during foetal development. Jointly they determine a person's basic constitution, which is termed their 'prakriti'. Development and progressi on of different diseases with their subtypes are thought to depend on the origin and mechanism of perturbation of the doshas, and the aim of therapeutic practice is to ensure that the doshas retain their homeostatic state. Similarly, western systems biology epitomized by translational P4 medicine envisages the integration of multiscalar genetic, cellular, physiological and environmental networks to predict phenotypic outcomes of perturbations. In this perspective article, we aim to outline the shape of a unifying scaffold that may allow the two intellectual traditions to enhance one another. Specifically, we illustrate how a unique integrative 'Ayurgenomics' approach can be used to integrate the trisutra concept of Ayurveda with genomics. We observe biochemical and molecular correlates of prakriti and show how these differ significantly in processes that are linked to intermediate patho-phenotypes, known to take different course in diseases. We also observe a significant enr ichment of the highly connected

  6. Using the Web and ICT to Enable Persons with Disabilities

    NASA Astrophysics Data System (ADS)

    Cook, Albert M.

    In order to lead full and productive lives, persons with disabilities need to have the same access to information and communication systems as the rest of the population. Advances in information and communication technologies (ICT) are occurring quickly, and the capability of technologies to meet the needs of persons with disabilities is growing daily. Future developments in assistive technologies (AT) and the successful application of these technologies to meet the needs of people who have disabilities are dependent on exploitation of these ICT advances. The goal for ICT universal design (or design for all) is to have an environment with enough embedded intelligence to be easily adaptable to the varying cognitive, physical and sensory skills of a wide range of individual's in order to meet their productivity, leisure and self care needs. If ICT advances are not adaptable enough to be accessible to persons with disabilities it will further increase the disparity between those individuals and the rest of the population leading to further isolation and economic disadvantage. On the other hand, availability of these technologies in a transparent way will contribute to full inclusion of individuals who have disabilities in the mainstream of society.

  7. Reflections on market access for personalized medicine: recommendations for Europe.

    PubMed

    Payne, Katherine; Annemans, Lieven

    2013-01-01

    This article aims to provide an overview of the current literature focusing on the reimbursement of personalized medicine across the European Union. The article starts by describing types of perspectives that are possible (general public, patient, payer, provider, service commissioner, and policymaker). The description of perspectives also explains the importance of understanding the different possible decision criteria and processes from the various perspectives by taking into account budget constraints. The article then focuses on an example of personalized medicine, namely, the use of companion diagnostic-medicine combinations, to describe the role of reimbursement/payer agencies across the European Union to control the introduction and coverage of such companion diagnostic-medicine technologies. The article touches on the strategic challenges and the use of economic evidence to introduce personalized medicine from a health policy perspective. The article also draws on empirical studies that have explored patients' and clinicians' views of examples of personalized medicine to illustrate the challenges for developing patient-centered and timely health care services.

  8. The role of genetic information in personalized medicine.

    PubMed

    Gamma, Alex

    2013-01-01

    Personalized medicine is the latest promise of a gene-centered biomedicine to provide treatments custom-tailored to the specific needs of patients. Although surrounded by much hype, personalized medicine at present lacks the empirical and theoretical foundations necessary to render it a realistic long-term perspective. In particular, the role of genetic data and the relationship between causal understanding, prediction, prevention, and treatment of a disease need clarifying. This article critically examines the concept of information in genetics and its relation to modern-day genetic determinism, using pharmacogenetics, personalized medicine's core discipline, as a test case. The article concludes that: (1) genetic knowledge does not constitute a privileged basis for personalized medicine because there is an a priori complete causal parity of genetic and nongenetic resources of development; and (2) prediction, prevention, and treatment all depend on a causal-mechanistic understanding that will follow only from integrating data across the whole gamut of developmental factors-genetic and non-genetic. In a future successful personalized medicine, genes will have no special status, either as determinants of phenotype, markers of disease or as targets of treatment.

  9. Personal Genomic Information Management and Personalized Medicine: Challenges, Current Solutions, and Roles of HIM Professionals

    PubMed Central

    Alzu'bi, Amal; Zhou, Leming; Watzlaf, Valerie

    2014-01-01

    In recent years, the term personalized medicine has received more and more attention in the field of healthcare. The increasing use of this term is closely related to the astonishing advancement in DNA sequencing technologies and other high-throughput biotechnologies. A large amount of personal genomic data can be generated by these technologies in a short time. Consequently, the needs for managing, analyzing, and interpreting these personal genomic data to facilitate personalized care are escalated. In this article, we discuss the challenges for implementing genomics-based personalized medicine in healthcare, current solutions to these challenges, and the roles of health information management (HIM) professionals in genomics-based personalized medicine. PMID:24808804

  10. Proteogenomics: Key Driver for Clinical Discovery and Personalized Medicine.

    PubMed

    Barbieri, Ruggero; Guryev, Victor; Brandsma, Corry-Anke; Suits, Frank; Bischoff, Rainer; Horvatovich, Peter

    Proteogenomics is a multi-omics research field that has the aim to efficiently integrate genomics, transcriptomics and proteomics. With this approach it is possible to identify new patient-specific proteoforms that may have implications in disease development, specifically in cancer. Understanding the impact of a large number of mutations detected at the genomics level is needed to assess the effects at the proteome level. Proteogenomics data integration would help in identifying molecular changes that are persistent across multiple molecular layers and enable better interpretation of molecular mechanisms of disease, such as the causal relationship between single nucleotide polymorphisms (SNPs) and the expression of transcripts and translation of proteins compared to mainstream proteomics approaches. Identifying patient-specific protein forms and getting a better picture of molecular mechanisms of disease opens the avenue for precision and personalized medicine. Proteogenomics is, however, a challenging interdisciplinary science that requires the understanding of sample preparation, data acquisition and processing for genomics, transcriptomics and proteomics. This chapter aims to guide the reader through the technology and bioinformatics aspects of these multi-omics approaches, illustrated with proteogenomics applications having clinical or biological relevance.

  11. Predictive, preventive, personalized and participatory medicine: back to the future

    PubMed Central

    2010-01-01

    The pioneering work of Jean Dausset on the HLA system established several principles that were later reflected in the Human Genome Project and contributed to the foundations of predictive, preventive, personalized and participatory (P4) medicine. To effectively develop systems medicine, we should take advantage of the lessons of the HLA saga, emphasizing the importance of exploring a fascinating but mysterious biology, now using systems principles, pioneering new technology developments and creating shared biological and information resources. PMID:20804580

  12. Mild Cognitive Impairment, Neurodegeneration, and Personalized Lifestyle Medicine

    PubMed Central

    Bland, Jeffrey

    2016-01-01

    The takeaway message of this advancing science surrounding the causes and treatment of neurodegenerative diseases is to recognize MCI symptoms early and intervene with a comprehensive, multifaceted, personalized lifestyle medicine program that is designed to improve neurological function and built on the components described above. The present evidence suggests this approach represents the best medicine available today for beating back the rising tide of cognitive impairment and neurodegeneration. PMID:27330484

  13. Pharmacogenetics, Pharmacogenomics and Ayurgenomics for Personalized Medicine: A Paradigm Shift

    PubMed Central

    Gupta, Pooja D.

    2015-01-01

    The value of health care can be increased tremendously through individualized medicine. With the promise of individualized medicine, healthcare professionals will be able to better predict disease risk, prevent development of disease and manage treatments more efficiently thereby allowing people to be healthier and active longer. The developments in the area of pharmacogenetics/pharmacogenomics can help the physicians achieve the target of personalized medicine. Personalized medicine will come to mean not just the right drug for the right individual, but the right drug for the specific disease affecting a specific individual. The use of personalized medicine will make clinical trials more efficient by lowering the costs that would arise due to adverse drug effects and prescription of drugs that have been proven ineffective in certain genotypes. The genotypic experiments have laid valuable insights into genetic underpinnings of diseases. However it is being realized that identification of sub-groups within normal controls corresponding to contrasting disease susceptibility could lead to more effective discovery of predictive markers for diseases. However there are no modern methods available to look at the inter-individual differences within ethnically matched healthy populations. Ayurveda, an exquisitely elaborate system of predictive medicine which has been practiced for over 3500 years in India, can help in bridging this gap. In contrast to the contemporary system of medicine, the therapeutic regimen in Ayurveda is implicated on tridoshas and prakriti. According to this system, every individual is born with his or her own basic constitution, which to a great extent regulates inter-individual variability in susceptibility to diseases and response to external environment, diet and drugs. Thus the researchers in India have demonstrated that integration of this stratified approach of Ayurveda into genomics i.e. Ayurgenomics could complement personalized medicine

  14. Path to Personalized Medicine for Type 2 Diabetes Mellitus: Reality and Hope.

    PubMed

    Aghaei Meybodi, Hamid Reza; Hasanzad, Mandana; Larijani, Bagher

    2017-03-01

    Type 2 diabetes mellitus (T2DM) is recognized as a public health problem and increasingly prevalent illness. Key elements of the guideline for diabetes care are based on evidence-based medicine approach and apply for population, not individuals. However, individualized care can improve diabetes management. Personalized medicine is otherwise called precision medicine tries to find better prediction, prevention, and intervention for T2DM individuals. Precision medicine in diabetes refers to the utility of genomics data of a patient with diabetes to provide the most effective diagnosis strategies and treatment plans. Over 100 genetic loci influence susceptibility to T2DM. Genomics data together with the potential of other "Omics" and clinical evidence-based data will lead to diabetes care improvement in the context of personalized medicine in the near future. Breakthrough of technologies enables much greater improvements in the understanding of individual variations that may alter the T2DM outcome. This article represents a comprehensive review of current knowledge on the impact of personalized medicine in T2DM.

  15. The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine.

    PubMed

    Blau, Ashley; Brown, Alison; Mahanta, Lisa; Amr, Sami S

    2016-02-26

    The Translational Genomics Core (TGC) at Partners Personalized Medicine (PPM) serves as a fee-for-service core laboratory for Partners Healthcare researchers, providing access to technology platforms and analysis pipelines for genomic, transcriptomic, and epigenomic research projects. The interaction of the TGC with various components of PPM provides it with a unique infrastructure that allows for greater IT and bioinformatics opportunities, such as sample tracking and data analysis. The following article describes some of the unique opportunities available to an academic research core operating within PPM, such the ability to develop analysis pipelines with a dedicated bioinformatics team and maintain a flexible Laboratory Information Management System (LIMS) with the support of an internal IT team, as well as the operational challenges encountered to respond to emerging technologies, diverse investigator needs, and high staff turnover. In addition, the implementation and operational role of the TGC in the Partners Biobank genotyping project of over 25,000 samples is presented as an example of core activities working with other components of PPM.

  16. The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine

    PubMed Central

    Blau, Ashley; Brown, Alison; Mahanta, Lisa; Amr, Sami S.

    2016-01-01

    The Translational Genomics Core (TGC) at Partners Personalized Medicine (PPM) serves as a fee-for-service core laboratory for Partners Healthcare researchers, providing access to technology platforms and analysis pipelines for genomic, transcriptomic, and epigenomic research projects. The interaction of the TGC with various components of PPM provides it with a unique infrastructure that allows for greater IT and bioinformatics opportunities, such as sample tracking and data analysis. The following article describes some of the unique opportunities available to an academic research core operating within PPM, such the ability to develop analysis pipelines with a dedicated bioinformatics team and maintain a flexible Laboratory Information Management System (LIMS) with the support of an internal IT team, as well as the operational challenges encountered to respond to emerging technologies, diverse investigator needs, and high staff turnover. In addition, the implementation and operational role of the TGC in the Partners Biobank genotyping project of over 25,000 samples is presented as an example of core activities working with other components of PPM. PMID:26927185

  17. Navigating legal constraints in clinical data warehousing: a case study in personalized medicine.

    PubMed

    Jefferys, Benjamin R; Nwankwo, Iheanyi; Neri, Elias; Chang, David C W; Shamardin, Lev; Hänold, Stefanie; Graf, Norbert; Forgó, Nikolaus; Coveney, Peter

    2013-04-06

    Personalized medicine relies in part upon comprehensive data on patient treatment and outcomes, both for analysis leading to improved models that provide the basis for enhanced treatment, and for direct use in clinical decision-making. A data warehouse is an information technology for combining and standardizing multiple databases. Data warehousing of clinical data is constrained by many legal and ethical considerations, owing to the sensitive nature of the data being stored. We describe an unconstrained clinical data warehousing architecture, some of the legal constraints that have led us to reconsider this architecture, and the legal and technical solutions to these constraints developed for the clinical data warehouse in the personalized medicine project p-medicine. We also propose some changes to the legal constraints that will further enable clinical research.

  18. Navigating legal constraints in clinical data warehousing: a case study in personalized medicine

    PubMed Central

    Jefferys, Benjamin R.; Nwankwo, Iheanyi; Neri, Elias; Chang, David C. W.; Shamardin, Lev; Hänold, Stefanie; Graf, Norbert; Forgó, Nikolaus; Coveney, Peter

    2013-01-01

    Personalized medicine relies in part upon comprehensive data on patient treatment and outcomes, both for analysis leading to improved models that provide the basis for enhanced treatment, and for direct use in clinical decision-making. A data warehouse is an information technology for combining and standardizing multiple databases. Data warehousing of clinical data is constrained by many legal and ethical considerations, owing to the sensitive nature of the data being stored. We describe an unconstrained clinical data warehousing architecture, some of the legal constraints that have led us to reconsider this architecture, and the legal and technical solutions to these constraints developed for the clinical data warehouse in the personalized medicine project p-medicine. We also propose some changes to the legal constraints that will further enable clinical research. PMID:24427531

  19. The Oral-Systemic Personalized Medicine Model at Marshfield Clinic

    PubMed Central

    Glurich, Ingrid; Acharya, Amit; Shukla, Sanjay K.; Nycz, Greg R; Brilliant, Murray H.

    2012-01-01

    Periodontal disease and diabetes, two diseases that have achieved epidemic status, share a bi-directional relationship driven by micro-inflammatory processes. The present review frames the current understanding of the pathological processes that appear to link these diseases and advances the hypothesis that reversal of the epidemic is possible through application of interdisciplinary intervention and advancement of oral-systemic personalized medicine. An overview of how Marshfield Clinic’s unique clinical, informatics and bio-repository resources and infrastructures are being aligned to advance oral-systemic personalized medicine is presented as an interventional model with the potential to reverse the epidemic trends seen for these two chronic diseases over the past several decades. The overall vision is to engineer a transformational shift in paradigm from ‘personalized medicine’ to ‘personalized health’. PMID:22458294

  20. Personalized medicine and stroke prevention: where are we?

    PubMed

    Kim, Joosup; Thrift, Amanda G; Nelson, Mark R; Bladin, Christopher F; Cadilhac, Dominique A

    2015-01-01

    There are many recommended pharmacological and non-pharmacological therapies for the prevention of stroke, and an ongoing challenge is to improve their uptake. Personalized medicine is seen as a possible solution to this challenge. Although the use of genetic information to guide health care could be considered as the apex of personalized medicine, genetics is not yet routinely used to guide prevention of stroke. Currently personalized aspects of prevention of stroke include tailoring interventions based on global risk, the utilization of individualized management plans within a model of organized care, and patient education. In this review we discuss the progress made in these aspects of prevention of stroke and present a case study to illustrate the issues faced by health care providers and patients with stroke that could be overcome with a personalized approach to the prevention of stroke.

  1. Precision or Personalized Medicine for Cancer Chemotherapy: Is there a Role for Herbal Medicine.

    PubMed

    Wang, Zhijun; Liu, Xuefeng; Ho, Rebecca Lucinda Ka Yan; Lam, Christopher Wai Kei; Chow, Moses Sing Sum

    2016-07-07

    Although over 100 chemotherapeutic agents are currently available for the treatment of cancer patients, the overall long term clinical benefit is disappointing due to the lack of effectiveness or severe side effects from these agents. In order to improve the therapeutic outcome, a new approach called precision medicine or personalized medicine has been proposed and initiated by the U.S. National Institutes of Health. However, the limited availability of effective medications and the high cost are still the major barriers for many cancer patients. Thus alternative approaches such as herbal medicines could be a feasible and less costly option. Unfortunately, scientific evidence for the efficacy of a majority of herbal medicines is still lacking and their development to meet FDA approval or other regulatory agencies is a big challenge. However, herbal medicines may be able to play an important role in precision medicine or personalized medicine. This review will focus on the existing and future technologies that could speed the development of herbal products for treatment of resistant cancer in individual patients. Specifically, it will concentrate on reviewing the phenotypic (activity based) rather than genotypic (mechanism based) approach to develop herbal medicine useful for personalized cancer chemotherapy.

  2. Genomes, Populations and Diseases: Ethnic Genomics and Personalized Medicine

    PubMed Central

    Stepanov, V.A.

    2010-01-01

    This review discusses the progress of ethnic genetics, the genetics of common diseases, and the concepts of personalized medicine. We show the relationship between the structure of genetic diversity in human populations and the varying frequencies of Mendelian and multifactor diseases. We also examine the population basis of pharmacogenetics and evaluate the effectiveness of pharmacotherapy, along with a review of new achievements and prospects in personalized genomics. PMID:22649660

  3. OncDRS: An integrative clinical and genomic data platform for enabling translational research and precision medicine

    PubMed Central

    Orechia, John; Pathak, Ameet; Shi, Yunling; Nawani, Aniket; Belozerov, Andrey; Fontes, Caitlin; Lakhiani, Camille; Jawale, Chetan; Patel, Chetansharan; Quinn, Daniel; Botvinnik, Dmitry; Mei, Eddie; Cotter, Elizabeth; Byleckie, James; Ullman-Cullere, Mollie; Chhetri, Padam; Chalasani, Poornima; Karnam, Purushotham; Beaudoin, Ronald; Sahu, Sandeep; Belozerova, Yelena; Mathew, Jomol P.

    2015-01-01

    We live in the genomic era of medicine, where a patient's genomic/molecular data is becoming increasingly important for disease diagnosis, identification of targeted therapy, and risk assessment for adverse reactions. However, decoding the genomic test results and integrating it with clinical data for retrospective studies and cohort identification for prospective clinical trials is still a challenging task. In order to overcome these barriers, we developed an overarching enterprise informatics framework for translational research and personalized medicine called Synergistic Patient and Research Knowledge Systems (SPARKS) and a suite of tools called Oncology Data Retrieval Systems (OncDRS). OncDRS enables seamless data integration, secure and self-navigated query and extraction of clinical and genomic data from heterogeneous sources. Within a year of release, the system has facilitated more than 1500 research queries and has delivered data for more than 50 research studies. PMID:27054074

  4. Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease

    PubMed Central

    Esplin, Edward D; Oei, Ling; Snyder, Michael P

    2015-01-01

    The potential for personalized sequencing to individually optimize medical treatment in diseases such as cancer and for pharmacogenomic application is just beginning to be realized, and the utility of sequencing healthy individuals for managing health is also being explored. The data produced requires additional advancements in interpretation of variants of unknown significance to maximize clinical benefit. Nevertheless, personalized sequencing, only recently applied to clinical medicine, has already been broadly applied to the discovery and study of disease. It is poised to enable the earlier and more accurate diagnosis of disease risk and occurrence, guide prevention and individualized intervention as well as facilitate monitoring of healthy and treated patients, and play a role in the prevention and recurrence of future disease. This article documents the advancing capacity of personalized sequencing, reviews its impact on disease-oriented scientific discovery and anticipates its role in the future of medicine. PMID:25493570

  5. Translational research of optical molecular imaging for personalized medicine.

    PubMed

    Qin, C; Ma, X; Tian, J

    2013-12-01

    In the medical imaging field, molecular imaging is a rapidly developing discipline and forms many imaging modalities, providing us effective tools to visualize, characterize, and measure molecular and cellular mechanisms in complex biological processes of living organisms, which can deepen our understanding of biology and accelerate preclinical research including cancer study and medicine discovery. Among many molecular imaging modalities, although the penetration depth of optical imaging and the approved optical probes used for clinics are limited, it has evolved considerably and has seen spectacular advances in basic biomedical research and new drug development. With the completion of human genome sequencing and the emergence of personalized medicine, the specific drug should be matched to not only the right disease but also to the right person, and optical molecular imaging should serve as a strong adjunct to develop personalized medicine by finding the optimal drug based on an individual's proteome and genome. In this process, the computational methodology and imaging system as well as the biomedical application regarding optical molecular imaging will play a crucial role. This review will focus on recent typical translational studies of optical molecular imaging for personalized medicine followed by a concise introduction. Finally, the current challenges and the future development of optical molecular imaging are given according to the understanding of the authors, and the review is then concluded.

  6. Application of person-centered medicine in addiction

    PubMed Central

    Tarter, Ralph E.; Kirisci, Levent; Ridenour, Ty; Bogen, Debra

    2012-01-01

    This article discusses human individuality within a lifespan developmental perspective. The practical application of an individual differences framework for diagnosis, prevention and treatment of addiction is described. A brief overview of the methods conducive to knowledge development within the rubric of person-centered medicine that are available to practitioners working in office and clinic settings concludes the discussion. PMID:23243492

  7. Managing the innovation supply chain to maximize personalized medicine.

    PubMed

    Waldman, S A; Terzic, A

    2014-02-01

    Personalized medicine epitomizes an evolving model of care tailored to the individual patient. This emerging paradigm harnesses radical technological advances to define each patient's molecular characteristics and decipher his or her unique pathophysiological processes. Translated into individualized algorithms, personalized medicine aims to predict, prevent, and cure disease without producing therapeutic adverse events. Although the transformative power of personalized medicine is generally recognized by physicians, patients, and payers, the complexity of translating discoveries into new modalities that transform health care is less appreciated. We often consider the flow of innovation and technology along a continuum of discovery, development, regulation, and application bridging the bench with the bedside. However, this process also can be viewed through a complementary prism, as a necessary supply chain of services and providers, each making essential contributions to the development of the final product to maximize value to consumers. Considering personalized medicine in this context of supply chain management highlights essential points of vulnerability and/or scalability that can ultimately constrain translation of the biological revolution or potentiate it into individualized diagnostics and therapeutics for optimized value creation and delivery.

  8. Evaluation of the Self-Directed Personal Services Program Operated through Enable.

    ERIC Educational Resources Information Center

    Walker, Pam; And Others

    This report evaluates a self-directed personal service (SDPS) program operated through the larger Enable Program for people with disabilities in Onondaga County, New York. First, it contrasts characteristics of traditional personal assistance services (such as low pay, agency-determined, limited types/levels of support, and program management…

  9. Gene expression analysis in RA: towards personalized medicine

    PubMed Central

    Burska, A N; Roget, K; Blits, M; Soto Gomez, L; van de Loo, F; Hazelwood, L D; Verweij, C L; Rowe, A; Goulielmos, G N; van Baarsen, L G M; Ponchel, F

    2014-01-01

    Gene expression has recently been at the forefront of advance in personalized medicine, notably in the field of cancer and transplantation, providing a rational for a similar approach in rheumatoid arthritis (RA). RA is a prototypic inflammatory autoimmune disease with a poorly understood etiopathogenesis. Inflammation is the main feature of RA; however, many biological processes are involved at different stages of the disease. Gene expression signatures offer management tools to meet the current needs for personalization of RA patient's care. This review analyses currently available information with respect to RA diagnostic, prognostic and prediction of response to therapy with a view to highlight the abundance of data, whose comparison is often inconclusive due to the mixed use of material source, experimental methodologies and analysis tools, reinforcing the need for harmonization if gene expression signatures are to become a useful clinical tool in personalized medicine for RA patients. PMID:24589910

  10. Personalized medicine, genomics, and pharmacogenomics: a primer for nurses.

    PubMed

    Blix, Andrew

    2014-08-01

    Personalized medicine is the study of patients' unique environmental influences as well as the totality of their genetic code-their genome-to tailor personalized risk assessments, diagnoses, prognoses, and treatments. The study of how patients' genomes affect responses to medications, or pharmacogenomics, is a related field. Personalized medicine and genomics are particularly relevant in oncology because of the genetic basis of cancer. Nurses need to understand related issues such as the role of genetic and genomic counseling, the ethical and legal questions surrounding genomics, and the growing direct-to-consumer genomics industry. As genomics research is incorporated into health care, nurses need to understand the technology to provide advocacy and education for patients and their families.

  11. Science, humanism, judgement, ethics: person-centered medicine as an emergent model of modern clinical practice.

    PubMed

    Miles, Andrew

    2013-01-01

    The Medical University of Plovdiv (MUP) has as its motto 'Committed to humanity". But what does humanity in modern medicine mean? Is it possible to practise a form of medicine that is without humanity? In the current article, it is argued that modern medicine is increasingly being practised in a de-personalised fashion, where the patient is understood not as a unique human individual, a person, but rather as a subject or an object and more in the manner of a complex biological machine. Medicine has, it is contended, become distracted from its duty to care, comfort and console as well as to ameliorate, attenuate and cure and that the rapid development of medicine's scientific knowledge is, paradoxically, principally causative. Signal occurrences in the 'patient as a person' movement are reviewed, together with the emergence of the evidence-based medicine (EBM) and patient-centered care (PCC) movements. The characteristics of a model of medicine evolving in response to medicine's current deficiencies--person-centered healthcare (PCH)--are noted and described. In seeking to apply science with humanism, via clinical judgement, within an ethical framework, it is contended that PCH will prove to be far more responsive to the needs of the individual patient and his/her personal circumstances than current models of practice, so that neither a reductive anatomico-pathological, disease-centric model of illness (EBM), nor an aggressive patient-directed, consumerist form of care (PCC) is allowed continued dominance within modern healthcare systems. In conclusion, it is argued that PCH will enable affordable advances in biomedicine and technology to be delivered to patients within a humanistic framework of clinical practice that recognises the patient as a person and which takes full account of his/her stories, values, preferences, goals, aspirations, fears, worries, hopes, cultural context and which responds to his/her psychological, emotional, spiritual and social necessities

  12. An eMERGE Clinical Center at Partners Personalized Medicine.

    PubMed

    Smoller, Jordan W; Karlson, Elizabeth W; Green, Robert C; Kathiresan, Sekar; MacArthur, Daniel G; Talkowski, Michael E; Murphy, Shawn N; Weiss, Scott T

    2016-01-20

    The integration of electronic medical records (EMRs) and genomic research has become a major component of efforts to advance personalized and precision medicine. The Electronic Medical Records and Genomics (eMERGE) network, initiated in 2007, is an NIH-funded consortium devoted to genomic discovery and implementation research by leveraging biorepositories linked to EMRs. In its most recent phase, eMERGE III, the network is focused on facilitating implementation of genomic medicine by detecting and disclosing rare pathogenic variants in clinically relevant genes. Partners Personalized Medicine (PPM) is a center dedicated to translating personalized medicine into clinical practice within Partners HealthCare. One component of the PPM is the Partners Healthcare Biobank, a biorepository comprising broadly consented DNA samples linked to the Partners longitudinal EMR. In 2015, PPM joined the eMERGE Phase III network. Here we describe the elements of the eMERGE clinical center at PPM, including plans for genomic discovery using EMR phenotypes, evaluation of rare variant penetrance and pleiotropy, and a novel randomized trial of the impact of returning genetic results to patients and clinicians.

  13. Personalized medicine: The return of the house call?

    PubMed

    Cutter, Gary R; Liu, Yuliang

    2012-12-01

    Personalized medicine is a new mantra evolving in health care. Harnessing each person's clinical, genetic, genomic, and environmental information drives the concept. The idea is simple. We can maximize a patient's chances of a better outcome if we base treatments on what we know. However, isn't this in many ways the way it's always been? Isn't this in part the basis for that old-time house call? To see how a disease or condition is being cared for in the home environment? Clinicians have long used personalized medicine, without overt use of single nucleotide polymorphisms, but certainly not totally void of genetic information. Of course, physicians of the past did not have gene chips, but they did have family histories often informing their decisions. Today as we raise the hopes for targeted therapies to break us free from the algorithmic treatments often followed by hit and miss approaches, there is a renewed fervor for personalized medicine. How do we get there and how does the average clinician or researcher understand the burgeoning array of information, talking heads, and latest hype of subgroup benefits? A key aspect is to trust your training, your experience, and your instincts, coupled with a few repeated doses of biostatistics.

  14. [Significance of genetic tests in the era of personalized medicine].

    PubMed

    Molnár, Judit Mária; Magyarósi, Szilvia; Németh, György

    2013-03-01

    Due to the rapid development in genomics, genetic markers gain importance in all areas of medicine including prevention, management and therapy of patients. As a result, medicine started to shift away from evidence based procedures to a more personalized one. However, the later one requires high quality validated genetic tests. These new tests appeared as preconceptional, preimplantational, prenatal, presymptomatic, diagnostic and direct to consumer forms. Before approval such tests must be analytically and clinically validated. Broader use of these genetic tests is dependent on their price and reimbursement schemes.

  15. Translational systems biology of inflammation: potential applications to personalized medicine

    PubMed Central

    Mi, Qi; Li, Nicole Yee-Key; Ziraldo, Cordelia; Ghuma, Ali; Mikheev, Maxim; Squires, Robert; Okonkwo, David O; Verdolini-Abbott, Katherine; Constantine, Gregory; An, Gary; Vodovotz, Yoram

    2011-01-01

    A central goal of industrialized nations is to provide personalized, preemptive and predictive medicine, while maintaining healthcare costs at a minimum. To do so, we must confront and gain an understanding of inflammation, a complex, nonlinear process central to many diseases that affect both industrialized and developing nations. Herein, we describe the work aimed at creating a rational, engineering-oriented and evidence-based synthesis of inflammation geared towards rapid clinical application. This comprehensive approach, which we call ‘Translational Systems Biology’, to date has been utilized for in silico studies of sepsis, trauma/hemorrhage/traumatic brain injury, acute liver failure and wound healing. This framework has now allowed us to suggest how to modulate acute inflammation in a rational and individually optimized fashion using engineering principles applied to a biohybrid device. We suggest that we are on the cusp of fulfilling the promise of in silico modeling for personalized medicine for inflammatory disease. PMID:21339856

  16. The financial hazard of personalized medicine and supportive care.

    PubMed

    Carrera, Pricivel M; Olver, Ian

    2015-12-01

    Personalized medicine is revolutionizing the delivery of oncological care, promising benefits both at the patient and health system levels. The cost of targeted therapies, unfortunately, is becoming more expensive and unaffordable. Where supportive care in cancer concerns the prevention and management of the adverse effects of cancer and its treatment and is the thrust of the Multinational Association of Supportive Care in Cancer, financing of and value in personalized medicine is an important area of research and engagement for the association. Discussing patients' concerns with and identifying those at most risk for the financial hazard of cancer treatment and offering financial counseling and assistance and/or referral to support networks are potential key areas for (exploring and providing) better supportive care. The time is now to turn the concern of patients and their carers, providers, and other advocates regarding the affordability of cancer treatment into a collective cause towards coordinated action.

  17. Label-Free Microcavity Biosensors: Steps towards Personalized Medicine

    PubMed Central

    Amarie, Dragos; Glazier, James A.

    2012-01-01

    Personalized medicine has the potential to improve our ability to maintain health and treat disease, while ameliorating continuously rising healthcare costs. Translation of basic research findings to clinical applications within regulatory compliance is required for personalized medicine to become the new foundation for practice of medicine. Deploying even a few of the thousands of potential diagnostic biomarkers identified each year as part of personalized treatment workflows requires clinically efficient biosensor technologies to monitor multiple biomarkers in patients in real time. This paper discusses a critical component of a regulatory system, a microcavity optical biosensor for label-free monitoring of biomolecular interactions at physiologically-relevant concentrations. While most current biosensor research focuses on improving sensitivity, this paper emphasizes other characteristics a biosensor technology requires to be practical in a clinical setting, presenting robust microcavity biosensors which are easy to manufacture and integrate with microfluidics into flexible and redesignable platforms making the microcavity biosensors deployable for continuous monitoring of biomarkers in body fluids in the clinic, in dense 2D random arrays for high-throughput applications like drug-library screening in interactomics, and of the secretory behavior of single cells in the laboratory. PMID:23443397

  18. Implementation and utilization of genetic testing in personalized medicine

    PubMed Central

    Abul-Husn, Noura S; Owusu Obeng, Aniwaa; Sanderson, Saskia C; Gottesman, Omri; Scott, Stuart A

    2014-01-01

    Clinical genetic testing began over 30 years ago with the availability of mutation detection for sickle cell disease diagnosis. Since then, the field has dramatically transformed to include gene sequencing, high-throughput targeted genotyping, prenatal mutation detection, preimplantation genetic diagnosis, population-based carrier screening, and now genome-wide analyses using microarrays and next-generation sequencing. Despite these significant advances in molecular technologies and testing capabilities, clinical genetics laboratories historically have been centered on mutation detection for Mendelian disorders. However, the ongoing identification of deoxyribonucleic acid (DNA) sequence variants associated with common diseases prompted the availability of testing for personal disease risk estimation, and created commercial opportunities for direct-to-consumer genetic testing companies that assay these variants. This germline genetic risk, in conjunction with other clinical, family, and demographic variables, are the key components of the personalized medicine paradigm, which aims to apply personal genomic and other relevant data into a patient’s clinical assessment to more precisely guide medical management. However, genetic testing for disease risk estimation is an ongoing topic of debate, largely due to inconsistencies in the results, concerns over clinical validity and utility, and the variable mode of delivery when returning genetic results to patients in the absence of traditional counseling. A related class of genetic testing with analogous issues of clinical utility and acceptance is pharmacogenetic testing, which interrogates sequence variants implicated in interindividual drug response variability. Although clinical pharmacogenetic testing has not previously been widely adopted, advances in rapid turnaround time genetic testing technology and the recent implementation of preemptive genotyping programs at selected medical centers suggest that personalized

  19. Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe.

    PubMed

    Malentacchi, Francesca; Mancini, Irene; Brandslund, Ivan; Vermeersch, Pieter; Schwab, Matthias; Marc, Janja; van Schaik, Ron H N; Siest, Gerard; Theodorsson, Elvar; Pazzagli, Mario; Di Resta, Chiara

    2015-06-01

    Developments in "-omics" are creating a paradigm shift in laboratory medicine leading to personalized medicine. This allows the increase in diagnostics and therapeutics focused on individuals rather than populations. In order to investigate whether laboratory medicine is ready to play a key role in the integration of personalized medicine in routine health care and set the state-of-the-art knowledge about personalized medicine and laboratory medicine in Europe, a questionnaire was constructed under the auspices of the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) and the European Society of Pharmacogenomics and Personalised Therapy (ESPT). The answers of the participating laboratory medicine professionals indicate that they are aware that personalized medicine can represent a new and promising health model, and that laboratory medicine should play a key role in supporting the implementation of personalized medicine in the clinical setting. Participants think that the current organization of laboratory medicine needs additional/relevant implementations such as (i) new technological facilities in -omics; (ii) additional training for the current personnel focused on the new methodologies; (iii) incorporation in the laboratory of new competencies in data interpretation and counseling; and (iv) cooperation and collaboration among professionals of different disciplines to integrate information according to a personalized medicine approach.

  20. The role of psychoneuroimmunology in personalized and systems medicine.

    PubMed

    Yan, Qing

    2012-01-01

    Psychoneuroimmunology (PNI) may provide the scientific basis for personalized and systems medicine. The exploration of the extensive interactions among psychological and behavioral factors, the nervous system, the immune system, and the endocrine system may help understand the mechanisms underlying health, wellness, and diseases. PNI theories based on systems biology methodologies may contribute to the identification of patient patterns for establishing psychological and physiological profiles for personalized medicine. A biopsychosocial model will help elucidate the systemic interrelationships between psychosocial and bio-physiological factors for the development of systems medicine. Many evidences have supported the close relationships between stress, depression, inflammation, and disorders including obesity, cardiovascular disease, diabetes, arthritis, skin diseases, infectious diseases, and sleep disorders. As inflammation is a critical connection among different diseases, the elucidation of the associations may contribute to the findings of systemic therapeutic targets. With the understanding of the translational implications of PNI, integrative interventions in multiple dimensions can be applied to modulate stress responses and promote healthier behaviors. These interventions include combination drug therapies, diets, nutritional supplements, meditation, and other behavioral and mind-body strategies.

  1. Genetic Knowledge Among Participants in the Coriell Personalized Medicine Collaborative

    PubMed Central

    Schmidlen, Tara J.; Scheinfeldt, Laura; Zhaoyang, Ruixue; Kasper, Rachel; Sweet, Kevin; Gordon, Erynn S.; Keller, Margaret; Stack, Cathy; Gharani, Neda; Daly, Mary B.; Jarvis, Joseph; Christman, Michael F.

    2015-01-01

    Genetic literacy is essential for the effective integration of genomic information into healthcare; yet few recent studies have been conducted to assess the current state of this knowledge base. Participants in the Coriell Personalized Medicine Collaborative (CPMC), a prospective study assessing the impact of personalized genetic risk reports for complex diseases and drug response on behavior and health outcomes, completed genetic knowledge questionnaires and other surveys through an online portal. To assess the association between genetic knowledge and genetic education background, multivariate linear regression was performed. 4 062 participants completed a genetic knowledge and genetic education background questionnaire. Most were older (mean age: 50), Caucasian (90%), female (59%), highly educated (69% bachelor’s or higher), with annual household income over $100 000 (49%). Mean percent correct was 76%. Controlling for demographics revealed that health care providers, participants previously exposed to genetics, and participants with ‘better than most’ self-rated knowledge were significantly more likely to have a higher knowledge score (p<0.001). Overall, genetic knowledge was high with previous genetic education experience predictive of higher genetic knowledge score. Education is likely to improve genetic literacy, an important component to expanded use of genomics in personalized medicine. PMID:26306685

  2. The impact of computer science in molecular medicine: enabling high-throughput research.

    PubMed

    de la Iglesia, Diana; García-Remesal, Miguel; de la Calle, Guillermo; Kulikowski, Casimir; Sanz, Ferran; Maojo, Víctor

    2013-01-01

    The Human Genome Project and the explosion of high-throughput data have transformed the areas of molecular and personalized medicine, which are producing a wide range of studies and experimental results and providing new insights for developing medical applications. Research in many interdisciplinary fields is resulting in data repositories and computational tools that support a wide diversity of tasks: genome sequencing, genome-wide association studies, analysis of genotype-phenotype interactions, drug toxicity and side effects assessment, prediction of protein interactions and diseases, development of computational models, biomarker discovery, and many others. The authors of the present paper have developed several inventories covering tools, initiatives and studies in different computational fields related to molecular medicine: medical informatics, bioinformatics, clinical informatics and nanoinformatics. With these inventories, created by mining the scientific literature, we have carried out several reviews of these fields, providing researchers with a useful framework to locate, discover, search and integrate resources. In this paper we present an analysis of the state-of-the-art as it relates to computational resources for molecular medicine, based on results compiled in our inventories, as well as results extracted from a systematic review of the literature and other scientific media. The present review is based on the impact of their related publications and the available data and software resources for molecular medicine. It aims to provide information that can be useful to support ongoing research and work to improve diagnostics and therapeutics based on molecular-level insights.

  3. The promise of personalized medicine: a conversation with Michael Svinte. Interview by Michael Millenson.

    PubMed

    Svinte, Michael

    2006-01-01

    In early 2004, IBM combined its Healthcare unit, which focused on the technology needs of providers, with its Life Sciences unit, which catered to research scientists. Out of that union was born an "emerging business opportunity" called information-based medicine, in which IBM has already invested tens of millions in the expectation of reaping billions of dollars in revenues. Michael Svinte describes his mission as providing the information technology infrastructure that will enable technologies such as proteomics and molecular imaging to progress from the bench to the bedside, thereby resulting in predictive and personalized health care.

  4. Infrastructure for Personalized Medicine at Partners HealthCare

    PubMed Central

    Weiss, Scott T.; Shin, Meini Sumbada

    2016-01-01

    Partners HealthCare Personalized Medicine (PPM) is a center within the Partners HealthCare system (founded by Massachusetts General Hospital and Brigham and Women’s Hospital) whose mission is to utilize genetics and genomics to improve the care of patients in a cost effective manner. PPM consists of five interconnected components: (1) Laboratory for Molecular Medicine (LMM), a CLIA laboratory performing genetic testing for patients world-wide; (2) Translational Genomics Core (TGC), a core laboratory providing genomic platforms for Partners investigators; (3) Partners Biobank, a biobank of samples (DNA, plasma and serum) for 50,000 Consented Partners patients; (4) Biobank Portal, an IT infrastructure and viewer to bring together genotypes, samples, phenotypes (validated diagnoses, radiology, and clinical chemistry) from the electronic medical record to Partners investigators. These components are united by (5) a common IT system that brings researchers, clinicians, and patients together for optimal research and patient care. PMID:26927187

  5. Biomarkers research in Europe: focus on personalized medicine.

    PubMed

    Metodiev, Metodi V

    2011-09-01

    The sixth annual European Biomarkers Summit took place in London, UK, on 18-19 May 2011. It was part of a larger event, organized by Select Biosciences, with meetings on molecular diagnostics, single cell analysis and theranostics for personalized medicine. The Biomarkers Summit featured 17 invited talks from academics and industry researchers, a number of poster presentations and exhibitions from several companies marketing biomarker-related technologies and consumables. The focus was broad, covering various aspects of biomarker discovery, qualification, and applications, and a variety of diseases including cancer, neurodegenerative conditions and infectious diseases. Gene-based, as well as protein-based, platforms for biomarkers identification and analysis were discussed.

  6. Progress in oral personalized medicine: contribution of ‘omics’

    PubMed Central

    Glurich, Ingrid; Acharya, Amit; Brilliant, Murray H.; Shukla, Sanjay K.

    2015-01-01

    Background Precision medicine (PM), representing clinically applicable personalized medicine, proactively integrates and interprets multidimensional personal health data, including clinical, ‘omics’, and environmental profiles, into clinical practice. Realization of PM remains in progress. Objective The focus of this review is to provide a descriptive narrative overview of: 1) the current status of oral personalized medicine; and 2) recent advances in genomics and related ‘omic’ and emerging research domains contributing to advancing oral-systemic PM, with special emphasis on current understanding of oral microbiomes. Design A scan of peer-reviewed literature describing oral PM or ‘omic’-based research conducted on humans/data published in English within the last 5 years in journals indexed in the PubMed database was conducted using mesh search terms. An evidence-based approach was used to report on recent advances with potential to advance PM in the context of historical critical and systematic reviews to delineate current state-of-the-art technologies. Special focus was placed on oral microbiome research associated with health and disease states, emerging research domains, and technological advances, which are positioning realization of PM. Results This review summarizes: 1) evolving conceptualization of personalized medicine; 2) emerging insight into roles of oral infectious and inflammatory processes as contributors to both oral and systemic diseases; 3) community shifts in microbiota that may contribute to disease; 4) evidence pointing to new uncharacterized potential oral pathogens; 5) advances in technological approaches to ‘omics’ research that will accelerate PM; 6) emerging research domains that expand insights into host–microbe interaction including inter-kingdom communication, systems and network analysis, and salivaomics; and 7) advances in informatics and big data analysis capabilities to facilitate interpretation of host and

  7. Personalized Cancer Medicine: Molecular Diagnostics, Predictive biomarkers, and Drug Resistance

    PubMed Central

    Gonzalez de Castro, D; Clarke, P A; Al-Lazikani, B; Workman, P

    2013-01-01

    The progressive elucidation of the molecular pathogenesis of cancer has fueled the rational development of targeted drugs for patient populations stratified by genetic characteristics. Here we discuss general challenges relating to molecular diagnostics and describe predictive biomarkers for personalized cancer medicine. We also highlight resistance mechanisms for epidermal growth factor receptor (EGFR) kinase inhibitors in lung cancer. We envisage a future requiring the use of longitudinal genome sequencing and other omics technologies alongside combinatorial treatment to overcome cellular and molecular heterogeneity and prevent resistance caused by clonal evolution. PMID:23361103

  8. Institutional profile: University of Florida Health Personalized Medicine Program.

    PubMed

    Cavallari, Larisa H; Weitzel, Kristin W; Elsey, Amanda R; Liu, Xinyue; Mosley, Scott A; Smith, Donald M; Staley, Benjamin J; Winterstein, Almut G; Mathews, Carol A; Franchi, Francesco; Rollini, Fabiana; Angiolillo, Dominick J; Starostik, Petr; Clare-Salzler, Michael J; Nelson, David R; Johnson, Julie A

    2017-04-01

    The University of Florida (UF) Health Personalized Medicine Program launched in 2012 with CYP2C19 genotyping for clopidogrel response at UF Health Shands Hospital. We have since expanded CYP2C19 genotyping to UF Health Jacksonville and established the infrastructure at UF Health to support clinical implementation for five additional gene-drug pairs: TPMT-thiopurines, IFNL3 (IL28B)-PEG IFN-α-based regimens, CYP2D6-opioids, CYP2D6/CYP2C19-antidepressants and CYP2C19-proton pump inhibitors. We are contributing to the evidence based on outcomes with genotype-guided therapy through pragmatic studies of our clinical implementations. In addition, we have developed a broad array of educational programs for providers, trainees and students that incorporate personal genotype evaluation to enhance participant learning.

  9. Jumping on the Train of Personalized Medicine: A Primer for Non- Geneticist Clinicians: Part 3. Clinical Applications in the Personalized Medicine Area

    PubMed Central

    Li, Aihua; Meyre, David

    2014-01-01

    The rapid decline of sequencing costs brings hope that personal genome sequencing will become a common feature of medical practice. This series of three reviews aim to help non-geneticist clinicians to jump into the fast-moving field of personalized genetic medicine. In the first two articles, we covered the fundamental concepts of molecular genetics and the methodologies used in genetic epidemiology. In this third article, we discuss the evolution of personalized medicine and illustrate the most recent success in the fields of Mendelian and complex human diseases. We also address the challenges that currently limit the use of personalized medicine to its full potential. PMID:25598768

  10. Personalized medicine in major depressive disorder -- opportunities and pitfalls.

    PubMed

    Miller, Diane B; O'Callaghan, James P

    2013-01-01

    The sequencing of the human genome in the early days of this millennium was greeted with great fanfare as this accomplishment was expected to revolutionize medicine and result in individualized treatments based on the genetic make-up of the patient. The ultimate promise of personalized medicine would be fulfilled with the identification of disease biomarkers that would be widely available for use in diagnosis and treatment. Progress, however, has been slow in providing disease biomarkers or approved diagnostic tests. This is true for major depressive disorder (MDD), despite its prevalence in the general population and the widespread acceptance of its biological basis. Studies using strategies like genome-wide association and candidate gene analyses have identified a number of possible biomarkers of MDD, including serum levels of neurotrophic factors, inflammatory cytokines and HPA axis hormones, but none have proven sufficiently powerful for clinical use. The lack of biologically based tests available for use in identifying patients with MDD is a significant impediment to personalized and more effective treatment, because it means diagnosis continues to be driven by subjective symptoms. While genetic studies of MDD have not yet led to diagnostic and treatment biomarkers, progress in determining the role of the genome in drug metabolism heralds the first effort in personalized prescribing for the antidepressants. The FDA suggested and approved genotyping tests for common variants of drug metabolism genes, such as the cytochrome p450s. By using these tests a physician can select an appropriate antidepressant for a given patient, as differences in clearance, half-life, and peak blood concentrations are controlled by genetic variability in drug metabolism. Personalization in drug choice can be achieved because these tests: (1) identify responders and non-responders; (2) provide alerts to possible adverse drug events; and (3) help optimize dose. Improved ways of

  11. Personalized medicine in psychiatry: new technologies and approaches.

    PubMed

    Costa e Silva, Jorge A

    2013-01-01

    Psychiatric patients tend to exhibit significant interindividual variability in their responses to psychoactive drugs, as well as an irregular clinical course. For these (and other) reasons, increasing numbers of psychiatrists are turning to genotyping for help in selecting the psychopharmacologic agents best suited to an individual patient's distinctive metabolic characteristics and clinical presentation. Fortunately, routine genotyping is already available for gene variations that code for proteins involved in neurotransmission, and for drug-metabolizing enzymes involved in the elimination of many medications. Thus, genotyping-based personalized psychiatry is now in sight. Increasing numbers of clinically useful DNA microarrays are in the development stage, including a simplified procedure for genotyping patients for CYP2D6, which metabolizes a high proportion of the currently prescribed antidepressants and antipsychotics. It has been pointed out that psychiatric disease is rarely a consequence of an abnormality in a single gene, but reflects the perturbations of complex intracellular networks in the brain. Thus, analysis of functional neuronal networks is becoming an essential component of drug development strategies. The integrated use of technologies such as electroencephalography, magnetoencephalography, functional magnetic resonance imaging (fMRI), and diffusion tensor imaging (DTI), in combination with pharmacogenetics, promises to transform our understanding of the mechanisms of psychiatric disorders and their treatment. The concept of network medicine envisions a time to come when drugs will be used to target a neural network rather than simply components within the network. Personalized medicine in psychiatry is still at an early stage, but it has a very promising future.

  12. Ensemble survival trees for identifying subpopulations in personalized medicine.

    PubMed

    Chen, Yu-Chuan; Chen, James J

    2016-09-01

    Recently, personalized medicine has received great attention to improve safety and effectiveness in drug development. Personalized medicine aims to provide medical treatment that is tailored to the patient's characteristics such as genomic biomarkers, disease history, etc., so that the benefit of treatment can be optimized. Subpopulations identification is to divide patients into several different subgroups where each subgroup corresponds to an optimal treatment. For two subgroups, traditionally the multivariate Cox proportional hazards model is fitted and used to calculate the risk score when outcome is survival time endpoint. Median is commonly chosen as the cutoff value to separate patients. However, using median as the cutoff value is quite subjective and sometimes may be inappropriate in situations where data are imbalanced. Here, we propose a novel tree-based method that adopts the algorithm of relative risk trees to identify subgroup patients. After growing a relative risk tree, we apply k-means clustering to group the terminal nodes based on the averaged covariates. We adopt an ensemble Bagging method to improve the performance of a single tree since it is well known that the performance of a single tree is quite unstable. A simulation study is conducted to compare the performance between our proposed method and the multivariate Cox model. The applications of our proposed method to two public cancer data sets are also conducted for illustration.

  13. The implications of electronic health record for personalized medicine.

    PubMed

    Shabo, Amnon

    2005-12-01

    The emerging concept of an electronic health record (EHR) targeted at a patient centric, cross-institutional and longitudinal information entity (possibly spanning the individuals lifetime) has great promise for personalized medicine. In fact, it is probably the only vehicle through which we may truly realize the personalization of medicine beyond population-based genetic profiles that are expected to become part of medication and treatment indications in the near future. The new EHR standards include mechanisms that integrate clinical data with genomic testing results obtained through applying research-type procedures, such as full DNA sequencing, to an individual patient. Although the most optimal process for the utilization of integrated clinical-genomic data in the EHR framework is still unclear, the new Health Level Seven (HL7) Clinical Genomics Draft Standard for Trial Use suggests using the 'encapsulate & bubble-up' approach, which includes two main phases: the encapsulation of raw genomic data and bubbling-up the most clinically significant portions of that data, while associating it with clinical phenotypes residing in the individual's EHR.

  14. An epidemiological perspective of personalized medicine: the Estonian experience

    PubMed Central

    Milani, L; Leitsalu, L; Metspalu, A

    2015-01-01

    Milani L, Leitsalu L, Metspalu A (University of Tartu). An epidemiological perspective of personalized medicine: the Estonian experience (Review). J Intern Med 2015; 277: 188–200. The Estonian Biobank and several other biobanks established over a decade ago are now starting to yield valuable longitudinal follow-up data for large numbers of individuals. These samples have been used in hundreds of different genome-wide association studies, resulting in the identification of reliable disease-associated variants. The focus of genomic research has started to shift from identifying genetic and nongenetic risk factors associated with common complex diseases to understanding the underlying mechanisms of the diseases and suggesting novel targets for therapy. However, translation of findings from genomic research into medical practice is still lagging, mainly due to insufficient evidence of clinical validity and utility. In this review, we examine the different elements required for the implementation of personalized medicine based on genomic information. First, biobanks and genome centres are required and have been established for the high-throughput genomic screening of large numbers of samples. Secondly, the combination of susceptibility alleles into polygenic risk scores has improved risk prediction of cardiovascular disease, breast cancer and several other diseases. Finally, national health information systems are being developed internationally, to combine data from electronic medical records from different sources, and also to gradually incorporate genomic information. We focus on the experience in Estonia, one of several countries with national goals towards more personalized health care based on genomic information, where the unique combination of elements required to accomplish this goal are already in place. PMID:25339628

  15. Addressing phenoconversion: the Achilles' heel of personalized medicine

    PubMed Central

    Shah, Rashmi R; Smith, Robert L

    2015-01-01

    Phenoconversion is a phenomenon that converts genotypic extensive metabolizers (EMs) into phenotypic poor metabolizers (PMs) of drugs, thereby modifying their clinical response to that of genotypic PMs. Phenoconversion, usually resulting from nongenetic extrinsic factors, has a significant impact on the analysis and interpretation of genotype-focused clinical outcome association studies and personalizing therapy in routine clinical practice. The high phenotypic variability or genotype–phenotype mismatch, frequently observed due to phenoconversion within the genotypic EM population, means that the real number of phenotypic PM subjects may be greater than predicted from their genotype alone, because many genotypic EMs would be phenotypically PMs. If the phenoconverted population with genotype–phenotype mismatch, most extensively studied for CYP2D6, is as large as the evidence suggests, there is a real risk that genotype-focused association studies, typically correlating only the genotype with clinical outcomes, may miss clinically strong pharmacogenetic associations, thus compromising any potential for advancing the prospects of personalized medicine. This review focuses primarily on co-medication-induced phenoconversion and discusses potential approaches to rectify some of the current shortcomings. It advocates routine phenotyping of subjects in genotype-focused association studies and proposes a new nomenclature to categorize study populations. Even with strong and reliable data associating patients' genotypes with clinical outcome(s), there are problems clinically in applying this knowledge into routine pharmacotherapy because of potential genotype–phenotype mismatch. Drug-induced phenoconversion during routine clinical practice remains a major public health issue. Therefore, the principal challenges facing personalized medicine, which need to be addressed, include identification of the following factors: (i) drugs that are susceptible to phenoconversion

  16. Development and Validation of a Personality Assessment Instrument for Traditional Korean Medicine: Sasang Personality Questionnaire

    PubMed Central

    Chae, Han; Lee, Siwoo; Park, Soo Hyun; Jang, Eunsu; Lee, Soo Jin

    2012-01-01

    Objective. Sasang typology is a traditional Korean medicine based on the biopsychosocial perspectives of Neo-Confucianism and utilizes medical herbs and acupuncture for type-specific treatment. This study was designed to develop and validate the Sasang Personality Questionnaire (SPQ) for future use in the assessment of personality based on Sasang typology. Design and Methods. We selected questionnaire items using internal consistency analysis and examined construct validity with explorative factor analysis using 245 healthy participants. Test-retest reliability as well as convergent validity were examined. Results. The 14-item SPQ showed acceptable internal consistency (Cronbach's alpha = .817) and test-retest reliability (r = .837). Three extracted subscales, SPQ-behavior, SPQ-emotionality, and SPQ-cognition, were found, explaining 55.77% of the total variance. The SPQ significantly correlated with Temperament and Character Inventory novelty seeking (r = .462), harm avoidance (r = −.390), and NEO Personality Inventory extraversion (r = .629). The SPQ score of the So-Eum (24.43 ± 4.93), Tae-Eum (27.33 ± 5.88), and So-Yang (30.90 ± 5.23) types were significantly different from each other (P < .01). Conclusion. Current results demonstrated the reliability and validity of the SPQ and its subscales that can be utilized as an objective instrument for conducting personalized medicine research incorporating the biopsychosocial perspective. PMID:22567034

  17. Translational research: precision medicine, personalized medicine, targeted therapies: marketing or science?

    PubMed

    Marquet, Pierre; Longeray, Pierre-Henry; Barlesi, Fabrice; Ameye, Véronique; Augé, Pascale; Cazeneuve, Béatrice; Chatelut, Etienne; Diaz, Isabelle; Diviné, Marine; Froguel, Philippe; Goni, Sylvia; Gueyffier, François; Hoog-Labouret, Natalie; Mourah, Samia; Morin-Surroca, Michèle; Perche, Olivier; Perin-Dureau, Florent; Pigeon, Martine; Tisseau, Anne; Verstuyft, Céline

    2015-01-01

    Personalized medicine is based on: 1) improved clinical or non-clinical methods (including biomarkers) for a more discriminating and precise diagnosis of diseases; 2) targeted therapies of the choice or the best drug for each patient among those available; 3) dose adjustment methods to optimize the benefit-risk ratio of the drugs chosen; 4) biomarkers of efficacy, toxicity, treatment discontinuation, relapse, etc. Unfortunately, it is still too often a theoretical concept because of the lack of convenient diagnostic methods or treatments, particularly of drugs corresponding to each subtype of pathology, hence to each patient. Stratified medicine is a component of personalized medicine employing biomarkers and companion diagnostics to target the patients likely to present the best benefit-risk balance for a given active compound. The concept of targeted therapy, mostly used in cancer treatment, relies on the existence of a defined molecular target, involved or not in the pathological process, and/or on the existence of a biomarker able to identify the target population, which should logically be small as compared to the population presenting the disease considered. Targeted therapies and biomarkers represent important stakes for the pharmaceutical industry, in terms of market access, of return on investment and of image among the prescribers. At the same time, they probably represent only the first generation of products resulting from the combination of clinical, pathophysiological and molecular research, i.e. of translational research.

  18. Translating Personality Psychology to Help Personalize Preventive Medicine for Young-Adult Patients

    PubMed Central

    Israel, Salomon; Moffitt, Terrie E.; Belsky, Daniel W.; Hancox, Robert J.; Poulton, Richie; Roberts, Brent; Thomson, W. Murray; Caspi, Avshalom

    2014-01-01

    The rising number of newly insured young adults brought on by healthcare reform will soon increase demands on primary-care physicians. Physicians will face more young-adult patients which presents an opportunity for more prevention-oriented care. In the current study, we evaluated whether brief observer reports of young adults’ personality traits could predict which individuals would be at greater risk for poor health as they entered midlife. Following the Dunedin Study cohort of 1,000 individuals, we show that very brief measures of young adults’ personalities predicted their midlife physical health across multiple domains (metabolic abnormalities, cardiorespiratory fitness, pulmonary function, periodontal disease, and systemic inflammation). Individuals scoring low on the traits of Conscientiousness and Openness-to-Experience went on to develop poorer health even after accounting for preexisting differences in education, socioeconomic status, smoking, obesity, self-reported health, medical conditions, and family medical history. Moreover, personality ratings from peer informants who knew participants well, and from a nurse and receptionist who had just met participants for the first time, predicted health decline from young adulthood to midlife despite striking differences in level of acquaintance. Personality effect sizes were on par with other well-established health-risk factors such as socioeconomic status, smoking, and self-reported health. We discuss the potential utility of personality measurement to function as an inexpensive and accessible tool for healthcare professionals to personalize preventive medicine. Adding personality information to existing healthcare electronic infrastructures could also advance personality theory by generating opportunities to examine how personality processes influence doctor-patient communication, health service use, and patient outcomes. PMID:24588093

  19. Translating personality psychology to help personalize preventive medicine for young adult patients.

    PubMed

    Israel, Salomon; Moffitt, Terrie E; Belsky, Daniel W; Hancox, Robert J; Poulton, Richie; Roberts, Brent; Thomson, W Murray; Caspi, Avshalom

    2014-03-01

    The rising number of newly insured young adults brought on by health care reform will soon increase demands on primary care physicians. Physicians will face more young adult patients, which presents an opportunity for more prevention-oriented care. In the present study, we evaluated whether brief observer reports of young adults' personality traits could predict which individuals would be at greater risk for poor health as they entered midlife. Following the cohort of 1,000 individuals from the Dunedin Multidisciplinary Health and Development Study (Moffitt, Caspi, Rutter, & Silva, 2001), we show that very brief measures of young adults' personalities predicted their midlife physical health across multiple domains (metabolic abnormalities, cardiorespiratory fitness, pulmonary function, periodontal disease, and systemic inflammation). Individuals scoring low on the traits of Conscientiousness and Openness to Experience went on to develop poorer health even after accounting for preexisting differences in education, socioeconomic status, smoking, obesity, self-reported health, medical conditions, and family medical history. Moreover, personality ratings from peer informants who knew participants well, and from a nurse and receptionist who had just met participants for the first time, predicted health decline from young adulthood to midlife despite striking differences in level of acquaintance. Personality effect sizes were on par with other well-established health risk factors such as socioeconomic status, smoking, and self-reported health. We discuss the potential utility of personality measurement to function as an inexpensive and accessible tool for health care professionals to personalize preventive medicine. Adding personality information to existing health care electronic infrastructures could also advance personality theory by generating opportunities to examine how personality processes influence doctor-patient communication, health service use, and patient

  20. Current methodological issues in the economic assessment of personalized medicine.

    PubMed

    Annemans, Lieven; Redekop, Ken; Payne, Katherine

    2013-01-01

    There is a need for methodological scrutiny in the economic assessment of personalized medicine. In this article, we present a list of 10 specific issues that we argue pose specific methodological challenges that require careful consideration when designing and conducting robust model-based economic evaluations in the context of personalized medicine. Key issues are related to the correct framing of the research question, interpretation of test results, data collection of medical management options after obtaining test results, and expressing the value of tests. The need to formulate the research question clearly and be explicit and specific about the technology being evaluated is essential because various test kits can have the same purpose and yet differ in predictive value, costs, and relevance to practice and patient populations. The correct reporting of sensitivity/specificity, and especially the false negatives and false positives (which are population dependent), of the investigated tests is also considered as a key element. This requires additional structural complexity to establish the relationship between the test result and the consecutive treatment changes and outcomes. This process involves translating the test characteristics into clinical utility, and therefore outlining the clinical and economic consequences of true and false positives and true and false negatives. Information on treatment patterns and on their costs and outcomes, however, is often lacking, especially for false-positive and false-negative test results. The analysis can even become very complex if different tests are combined or sequentially used. This potential complexity can be handled by explicitly showing how these tests are going to be used in practice and then working with the combined sensitivities and specificities of the tests. Each of these issues leads to a higher degree of uncertainty in economic models designed to assess the added value of personalized medicine compared

  1. p-Medicine: From data sharing and integration via VPH models to personalized medicine.

    PubMed

    Rossi, S; Christ-Neumann, Ml; Rüping, S; Buffa, Fm; Wegener, D; McVie, G; Coveney, Pv; Graf, N; Delorenzi, M

    2011-01-01

    The Worldwide innovative Networking in personalized cancer medicine (WIN) initiated by the Institute Gustave Roussy (France) and The University of Texas MD Anderson Cancer Center (USA) has dedicated its 3rd symposium (Paris, 6-8 July 2011) to discussion on gateways to increase the efficacy of cancer diagnostics and therapeutics (http://www.winconsortium.org/symposium.html).Speakers ranged from clinical oncologist to researchers, industrial partners, and tools developers; a famous patient was present: Janelle Hail, a 30-year breast cancer survivor, founder and CEO of the National Breast Cancer Foundation, Inc. (NBCF).The p-medicine consortium found this venue a perfect occasion to present a poster about its activities that are in accordance with the take home message of the symposium.In this communication, we summarize what we presented with particular attention to the interaction between the symposium's topic and content and our project.

  2. Ethical, legal and social implications of incorporating personalized medicine into healthcare

    PubMed Central

    Brothers, Kyle B; Rothstein, Mark A

    2015-01-01

    As research focused on personalized medicine has developed over the past decade, bioethics scholars have contemplated the ethical, legal and social implications of this type of research. In the next decade, there will be a need to broaden the focus of this work as personalized medicine moves into clinical settings. We consider two broad issues that will grow in importance and urgency. First, we analyze the consequences of the significant increase in health information that will be brought about by personalized medicine. Second, we raise concerns about the potential of personalized medicine to exacerbate existing disparities in healthcare. PMID:25601880

  3. The Information Technology Infrastructure for the Translational Genomics Core and the Partners Biobank at Partners Personalized Medicine

    PubMed Central

    Boutin, Natalie; Holzbach, Ana; Mahanta, Lisa; Aldama, Jackie; Cerretani, Xander; Embree, Kevin; Leon, Irene; Rathi, Neeta; Vickers, Matilde

    2016-01-01

    The Biobank and Translational Genomics core at Partners Personalized Medicine requires robust software and hardware. This Information Technology (IT) infrastructure enables the storage and transfer of large amounts of data, drives efficiencies in the laboratory, maintains data integrity from the time of consent to the time that genomic data is distributed for research, and enables the management of complex genetic data. Here, we describe the functional components of the research IT infrastructure at Partners Personalized Medicine and how they integrate with existing clinical and research systems, review some of the ways in which this IT infrastructure maintains data integrity and security, and discuss some of the challenges inherent to building and maintaining such infrastructure. PMID:26805892

  4. The Information Technology Infrastructure for the Translational Genomics Core and the Partners Biobank at Partners Personalized Medicine.

    PubMed

    Boutin, Natalie; Holzbach, Ana; Mahanta, Lisa; Aldama, Jackie; Cerretani, Xander; Embree, Kevin; Leon, Irene; Rathi, Neeta; Vickers, Matilde

    2016-01-21

    The Biobank and Translational Genomics core at Partners Personalized Medicine requires robust software and hardware. This Information Technology (IT) infrastructure enables the storage and transfer of large amounts of data, drives efficiencies in the laboratory, maintains data integrity from the time of consent to the time that genomic data is distributed for research, and enables the management of complex genetic data. Here, we describe the functional components of the research IT infrastructure at Partners Personalized Medicine and how they integrate with existing clinical and research systems, review some of the ways in which this IT infrastructure maintains data integrity and security, and discuss some of the challenges inherent to building and maintaining such infrastructure.

  5. Integrative network modeling approaches to personalized cancer medicine

    PubMed Central

    Kidd, Brian A; Readhead, Ben P; Eden, Caroline; Parekh, Samir; Dudley, Joel T

    2016-01-01

    The ability to collect millions of molecular measurements from patients is a now a reality for clinical medicine. This reality has created the challenge of how to integrate these vast amounts of data into models that accurately predict complex pathophysiology and can translate this complexity into clinically actionable outputs. Integrative informatics and data-driven approaches provide a framework for analyzing large-scale datasets and combining them into multiscale models that can be used to determine the key drivers of disease and identify optimal therapies for treating tumors. In this perspective we discuss how an integrative modeling approach is being used to inform individual treatment decisions, highlighting a recent case report that illustrates the challenges and opportunities for personalized oncology. PMID:27019658

  6. Somatic Mutations in Prostate Cancer: Closer to Personalized Medicine.

    PubMed

    Alvarez-Cubero, M J; Martinez-Gonzalez, L J; Robles-Fernandez, I; Martinez-Herrera, J; Garcia-Rodriguez, G; Pascual-Geler, M; Cozar, J M; Lorente, J A

    2017-04-01

    The molecular cause of prostate cancer (PCa) is still unclear; however, its progression involves androgen, PI3K/Akt, and PTEN signaling, as cycle and apoptotic pathways. Alterations in oncogenes and tumor suppressor genes as PIK3CA, BRAF, KRAS and TP53 are not very common. Recently, somatic mutations have been discovered in relation to cancer progression mainly in genes such as PIK3CA; however, little data has been described in PCa. Nowadays genetic tools allow us to investigate multiple details about the biological heterogeneity of PCa, to better understand the mechanisms of disease progression and treatment resistance. Therefore, if the most relevant somatic mutations were included during screening, we could identify the best treatment for the right patient, bringing us closer to personalized medicine. The main objective of this article is to provide a review of the principal somatic mutations that appear to have a relevant role in hormonal cancers, like prostate cancer.

  7. Respiratory proteomics: from descriptive studies to personalized medicine.

    PubMed

    Teran, Luis M; Montes-Vizuet, Rosalia; Li, Xinping; Franz, Thomas

    2015-01-02

    Respiratory diseases are highly prevalent and affect humankind worldwide, causing extensive morbidity and mortality with the environment playing an important role. Given the complex structure of the airways, sophisticated tools are required for early diagnosis; initial symptoms are nonspecific, and the clinical diagnosis is made frequently late. Over the past few years, proteomics has made high technological progress in mass-spectrometry-based protein identification and has allowed us to gain new insights into disease mechanisms and identify potential novel therapeutic targets. This review will highlight the contributions of proteomics toward the understanding of the respiratory proteome listing potential biomarkers and its potential application to the clinic. We also outline the contributions of proteomics to creating a personalized approach in respiratory medicine.

  8. The role of epigenetics in personalized medicine: challenges and opportunities

    PubMed Central

    2015-01-01

    Epigenetic alterations are considered to be very influential in both the normal and disease states of an organism. These alterations include methylation, acetylation, phosphorylation, and ubiquitylation of DNA and histone proteins (nucleosomes) as well as chromatin remodeling. Many diseases, such as cancers and neurodegenerative disorders, are often associated with epigenetic alterations. DNA methylation is one important modification that leads to disease. Standard therapies are given to patients; however, few patients respond to these drugs, because of various molecular alterations in their cells, which may be partially due to genetic heterogeneity and epigenetic alterations. To realize the promise of personalized medicine, both genetic and epigenetic diagnostic testing will be required. This review will discuss the advances that have been made as well as the challenges for the future. PMID:25951941

  9. Advances in personalized medicine - medicinal chemistry and pharmacology of vemurafenib and ivacaftor.

    PubMed

    Pellowska, M; Merk, D; Schubert-Zsilavecz, M

    2013-07-01

    Pharmacogenomics offers an entrance in the field of personalized medicine. This form of adapted therapy is going to be the future concerning the reduction of side effects and efficacy of the treatment of severe diseases. Vemurafenib and Ivacaftor are the first FDA approved drugs specially addressing mutated proteins. Both substances showed promising results in all clinical trials combined with relatively mild side effects by vemurafenib and placebo-like side effects by ivacaftor. The efficacy in addressing the specific mutation of each compound was confirmed in preclinical and clinical development.

  10. Personal, Electronic, Secure National Library of Medicine Hosts Health Records Conference

    MedlinePlus

    ... Bar Home Current Issue Past Issues EHR Personal, Electronic, Secure: National Library of Medicine Hosts Health Records ... One suggestion for saving money is to implement electronic personal health records. With this in mind, the ...

  11. Women in hospital medicine: facts, figures and personal experiences.

    PubMed

    Meghen, K; Sweeney, C; Linehan, C; O'Flynn, S; Boylan, G

    2013-02-01

    Although females represent a high proportion of medical graduates, women are under represented at consultant level in many hospital specialties. Qualitative and quantitative analyses were undertaken which established female representation at all levels of the medical workforce in Ireland in 2011 and documented the personal experiences of a sample of female specialists. The proportions of female trainees at initial and higher specialist training levels are 765 (53%) and 656 (55%) respectively but falls to 1,685 (32%) at hospital specialist level (p < 0.0001). Significantly fewer women are found at specialist as compared to training levels in anaesthesia (p = 0.04), emergency medicine (p = 0.02), medicine (p < 0.0001), obstetrics/gynaecology (p = 0.0005), paediatrics (p = 0.006), pathology p = 0.03) and surgery (p < 0.0001). The lowest proportion of female doctors at specialist level exists in the combined surgical specialties 88 (10%); the highest is in psychiatry 380 (53%). Qualitative findings indicate that females who complete specialist training are wary of pursuing either flexible training or part time work options and experience discrimination at a number of levels. They appear to be resilient to this and tolerate it. Balancing motherhood and work commitments is the biggest challenge faced by female doctors with children and causes some to change career pathways.

  12. BioMiner: Paving the Way for Personalized Medicine

    PubMed Central

    Bauer, Chris; Stec, Karol; Glintschert, Alexander; Gruden, Kristina; Schichor, Christian; Or-Guil, Michal; Selbig, Joachim; Schuchhardt, Johannes

    2015-01-01

    Personalized medicine is promising a revolution for medicine and human biology in the 21st century. The scientific foundation for this revolution is accomplished by analyzing biological high-throughput data sets from genomics, transcriptomics, proteomics, and metabolomics. Currently, access to these data has been limited to either rather simple Web-based tools, which do not grant much insight or analysis by trained specialists, without firsthand involvement of the physician. Here, we present the novel Web-based tool “BioMiner,” which was developed within the scope of an international and interdisciplinary project (SYSTHER†) and gives access to a variety of high-throughput data sets. It provides the user with convenient tools to analyze complex cross-omics data sets and grants enhanced visualization abilities. BioMiner incorporates transcriptomic and cross-omics high-throughput data sets, with a focus on cancer. A public instance of BioMiner along with the database is available at http://systherDB.microdiscovery.de/, login and password: “systher”; a tutorial detailing the usage of BioMiner can be found in the Supplementary File. PMID:26005322

  13. Immunohistochemical molecular gene expression profile of metastatic brain tumor as a potent personalized medicine.

    PubMed

    Kato, Yasutaka; Nishihara, Hiroshi; Yuzawa, Sayaka; Mohri, Hiromi; Kanno, Hiromi; Hatanaka, Yutaka; Kimura, Taichi; Tanino, Mishie; Tanaka, Shinya

    2013-07-01

    Recent progress in molecule-targeting therapy may yield personalized therapeutic strategies for patients with metastatic brain tumors (MBT), the most frequently encountered intracranial tumors. For this purpose, we investigated the molecular expression profile of MBT to establish the pathological basis for personalized diagnosis. We studied 166 MBT specimens including 70 cases of lung cancer and 34 cases of breast cancer, and performed immunostaining for EGFR, COX-2, and O-6-methylguanine-DNA methyltransferase (MGMT), among others, which could be target molecules for therapeutic agents or enable prediction of drug efficacy. Loss of MGMT expression was observed in approximately 20-40% of MBT derived from lung, breast, and gastrointestinal cancers, indicating the possibility of treatment of MBT patients with temozolomide. In addition, MBT expressed a variety of receptor tyrosine kinases, for example EGFR and HER2, and signal transduction molecules, for example phospho-mTOR and COX-2, irrespective of tumor origin, enabling individualized medication with molecule-targeting drugs. We also identified alteration of molecular expression profile in 4 MBT cases during recurrence. Our results not only reveal the molecular characteristics of MBT but also suggest the possibility of potent personalized medicine for MBT patients.

  14. Identifying driver mutations in sequenced cancer genomes: computational approaches to enable precision medicine

    PubMed Central

    2014-01-01

    High-throughput DNA sequencing is revolutionizing the study of cancer and enabling the measurement of the somatic mutations that drive cancer development. However, the resulting sequencing datasets are large and complex, obscuring the clinically important mutations in a background of errors, noise, and random mutations. Here, we review computational approaches to identify somatic mutations in cancer genome sequences and to distinguish the driver mutations that are responsible for cancer from random, passenger mutations. First, we describe approaches to detect somatic mutations from high-throughput DNA sequencing data, particularly for tumor samples that comprise heterogeneous populations of cells. Next, we review computational approaches that aim to predict driver mutations according to their frequency of occurrence in a cohort of samples, or according to their predicted functional impact on protein sequence or structure. Finally, we review techniques to identify recurrent combinations of somatic mutations, including approaches that examine mutations in known pathways or protein-interaction networks, as well as de novo approaches that identify combinations of mutations according to statistical patterns of mutual exclusivity. These techniques, coupled with advances in high-throughput DNA sequencing, are enabling precision medicine approaches to the diagnosis and treatment of cancer. PMID:24479672

  15. Personalized medicine for ARDS: the 2035 research agenda.

    PubMed

    Beitler, Jeremy R; Goligher, Ewan C; Schmidt, Matthieu; Spieth, Peter M; Zanella, Alberto; Martin-Loeches, Ignacio; Calfee, Carolyn S; Cavalcanti, Alexandre B

    2016-05-01

    In the last 20 years, survival among patients with acute respiratory distress syndrome (ARDS) has increased substantially with advances in lung-protective ventilation and resuscitation. Building on this success, personalizing mechanical ventilation to patient-specific physiology for enhanced lung protection will be a top research priority for the years ahead. However, the ARDS research agenda must be broader in scope. Further understanding of the heterogeneous biology, from molecular to mechanical, underlying early ARDS pathogenesis is essential to inform therapeutic discovery and tailor treatment and prevention strategies to the individual patient. The ARDSne(x)t research agenda for the next 20 years calls for bringing personalized medicine to ARDS, asking simultaneously both whether a treatment affords clinically meaningful benefit and for whom. This expanded scope necessitates standard acquisition of highly granular biological, physiological, and clinical data across studies to identify biologically distinct subgroups that may respond differently to a given intervention. Clinical trials will need to consider enrichment strategies and incorporate long-term functional outcomes. Tremendous investment in research infrastructure and global collaboration will be vital to fulfilling this agenda.

  16. Personalized medicine for cystic fibrosis: establishing human model systems.

    PubMed

    Mou, Hongmei; Brazauskas, Karissa; Rajagopal, Jayaraj

    2015-10-01

    With over 1,500 identifiable mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that result in distinct functional and phenotypical abnormalities, it is virtually impossible to perform randomized clinical trials to identify the best therapeutics for all patients. Therefore, a personalized medicine approach is essential. The only way to realistically accomplish this is through the development of improved in vitro human model systems. The lack of a readily available and infinite supply of human CFTR-expressing airway epithelial cells is a key bottleneck. We propose that a concerted two-pronged approach is necessary for patient-specific cystic fibrosis research to continue to prosper and realize its potential: (1) more effective culture and differentiation conditions for growing primary human airway and nasal epithelial cells and (2) the development of collective protocols for efficiently differentiating disease- and patient-specific induced pluripotent stem cells (iPSC) into pure populations of adult epithelial cells. Ultimately, we need a personalized human model system for cystic fibrosis with the capacity for uncomplicated bankability, widespread availability, and universal applicability for patient-specific disease modeling, novel pharmacotherapy investigation and screening, and readily executable genetic modification.

  17. Towards personalized medicine: leveraging patient similarity and drug similarity analytics.

    PubMed

    Zhang, Ping; Wang, Fei; Hu, Jianying; Sorrentino, Robert

    2014-01-01

    The rapid adoption of electronic health records (EHR) provides a comprehensive source for exploratory and predictive analytic to support clinical decision-making. In this paper, we investigate how to utilize EHR to tailor treatments to individual patients based on their likelihood to respond to a therapy. We construct a heterogeneous graph which includes two domains (patients and drugs) and encodes three relationships (patient similarity, drug similarity, and patient-drug prior associations). We describe a novel approach for performing a label propagation procedure to spread the label information representing the effectiveness of different drugs for different patients over this heterogeneous graph. The proposed method has been applied on a real-world EHR dataset to help identify personalized treatments for hypercholesterolemia. The experimental results demonstrate the effectiveness of the approach and suggest that the combination of appropriate patient similarity and drug similarity analytics could lead to actionable insights for personalized medicine. Particularly, by leveraging drug similarity in combination with patient similarity, our method could perform well even on new or rarely used drugs for which there are few records of known past performance.

  18. [Billroth and Brahms: personal encounter of medicine and music].

    PubMed

    Hadaschik, B A; Hadaschik, E N; Hohenfellner, M

    2012-02-01

    Theodor Billroth and Johannes Brahms shared a decades long personal friendship. The music-loving Billroth influenced the work of the famous composer and in turn Brahms also left traces within Billroth's lifetime achievements. To shed light on the close relationship of medicine and music, this manuscript describes both Billroth's life and surgical career as they were influenced and stimulated by his close friendship to Brahms.Theodor Billroth and Johannes Brahms first met in 1865 in Zurich, Switzerland. After Billroth accepted the chair of surgery at the University of Vienna in 1867, Brahms moved to Vienna in 1869. During the following years, Billroth analyzed most of Brahms' compositions prior to publication. Similar to his effective way of teaching medical students and assistants, Billroth stimulated Brahms to publish many of his later compositions. Brahms on the other hand supported Billroth in writing his essay"Who is musical?". Furthermore, music helped Billroth to cope with the demanding working life of a surgeon.Music and surgery share both structural and emotional analogies. While both professions require meticulous techniques, personal interaction is a prerequisite for success. "Science and art scoop from the same well."

  19. Strategies to overcome clinical, regulatory, and financial challenges in the implementation of personalized medicine.

    PubMed

    Tsimberidou, Apostolia M; Ringborg, Ulrik; Schilsky, Richard L

    2013-01-01

    This article highlights major developments over the last decade in personalized medicine in cancer. Emerging data from clinical studies demonstrate that the use of targeted agents in patients with targetable molecular aberrations improves clinical outcomes. Despite a surge of studies, however, significant gaps in knowledge remain, especially in identifying driver molecular aberrations in patients with multiple aberrations, understanding molecular networks that control carcinogenesis and metastasis, and most importantly, discovering effective targeted agents. Implementation of personalized medicine requires continued scientific and technological breakthroughs; standardization of tumor tissue acquisition and molecular testing; changes in oncology practice and regulatory standards for drug and device access and approval; modification of reimbursement policies by health care payers; and innovative ways to collect and analyze electronic patient information that are linked to prospective clinical registries and rapid learning systems. Informatics systems that integrate clinical, laboratory, radiologic, molecular, and economic data will improve clinical care and will provide infrastructure to enable clinical research. The initiative of the EurocanPlatform aims to overcome the challenges of implementing personalized medicine in Europe by sharing patients, biologic materials, and technological resources across borders. The EurocanPlatform establishes a complete translational cancer research program covering the drug development process and strengthening collaborations among academic centers, pharmaceutical companies, regulatory authorities, health technology assessment organizations, and health care systems. The CancerLinQ rapid learning system being developed by ASCO has the potential to revolutionize how all stakeholders in the cancer community assemble and use information obtained from patients treated in real-world settings to guide clinical practice, regulatory

  20. Personal network recovery enablers and relapse risks for women with substance dependence.

    PubMed

    Brown, Suzanne; Tracy, Elizabeth M; Jun, MinKyoung; Park, Hyunyong; Min, Meeyoung O

    2015-03-01

    We examined the experiences of women in treatment for substance dependence and their treatment providers about personal networks and recovery. We conducted six focus groups at three women's intensive substance abuse treatment programs. Four coders used thematic analysis to guide the data coding and an iterative process to identify major themes. Coders identified social network characteristics that enabled and impeded recovery and a reciprocal relationship between internal states, relationship management, and recovery. Although women described adding individuals to their networks, they also described managing existing relationships through distancing from or isolating some members to diminish their negative impact on recovery. Treatment providers identified similar themes but focused more on contextual barriers than the women. The focus of interventions with this population should be on both internal barriers to personal network change such as mistrust and fear, and helping women develop skills for managing enduring network relationships.

  1. Personal Network Recovery Enablers and Relapse Risks for Women With Substance Dependence

    PubMed Central

    Brown, Suzanne; Tracy, Elizabeth M.; Jun, MinKyoung; Park, Hyunyong; Min, Meeyoung O.

    2015-01-01

    We examined the experiences of women in treatment for substance dependence and their treatment providers about personal networks and recovery. We conducted six focus groups at three women’s intensive substance abuse treatment programs. Four coders used thematic analysis to guide the data coding and an iterative process to identify major themes. Coders identified social network characteristics that enabled and impeded recovery and a reciprocal relationship between internal states, relationship management, and recovery. Although women described adding individuals to their networks, they also described managing existing relationships through distancing from or isolating some members to diminish their negative impact on recovery. Treatment providers identified similar themes but focused more on contextual barriers than the women. The focus of interventions with this population should be on both internal barriers to personal network change such as mistrust and fear, and helping women develop skills for managing enduring network relationships. PMID:25231945

  2. An integrated advanced communication and coaching platform for enabling personalized management of chronic cardiovascular diseases.

    PubMed

    Meneu, Teresa; Martínez-Romero, Álvaro; Martínez-Millana, Antonio; Guillén, Sergio

    2011-01-01

    Chronic cardiovascular diseases directly account for millions of deaths, billions of Euros and a big number of disabilities affecting the world's population. Even though primary and secondary prevention factors are well known, the awareness and the concern of citizens and patients is not big enough to cause a significant change in lifestyle that modifies the increasing trends. Patients and families, professionals and healthcare systems are not prepared to fight against this burden in an effective and aligned way. Some disease management programmes based on ICT solutions have and are currently being tested around the world but their relative impaction has been very limited. This paper proposes a new turn into Personal Health Systems applied to chronic disease management by increasing the capabilities for personalization, providing the patients with motivation and coaching support and enabling the work of the professionals with intelligent tools for strategic and clinical decision making based on the newest medical evidence.

  3. Security and privacy services in pathology for enabling trustworthy personal health.

    PubMed

    Blobel, Bernd

    2012-01-01

    Ubiquitous personalized health services including ePathology require comprehensive, but trusted interoperability. Contrary to regulated traditional health services with pre-defined policies, the solutions enabled by mobile, pervasive and autonomous technology have to follow dynamic policies reflecting the customers changing health services needs, expectations and wishes as well as contextual and environmental conditions. The paper introduces an advanced approach to trustworthy architecture-centric, policy-driven pHealth solutions. To some details, it also addresses security and privacy ontologies to represent the required policies.

  4. Psychiatry and Emergency Medicine: Medical Student and Physician Attitudes toward Homeless Persons

    ERIC Educational Resources Information Center

    Morrison, Ann; Roman, Brenda; Borges, Nicole

    2012-01-01

    Objective: The purpose of the study was to explore changes in medical students' attitudes toward homeless persons during the Psychiatry and Emergency Medicine clerkships. Simultaneously, this study explored attitudes toward homeless persons held by Psychiatry and Emergency Medicine residents and faculty in an attempt to uncover the "hidden…

  5. Clinical phenotype network: the underlying mechanism for personalized diagnosis and treatment of traditional Chinese medicine.

    PubMed

    Zhou, Xuezhong; Li, Yubing; Peng, Yonghong; Hu, Jingqing; Zhang, Runshun; He, Liyun; Wang, Yinghui; Jiang, Lijie; Yan, Shiyan; Li, Peng; Xie, Qi; Liu, Baoyan

    2014-09-01

    Traditional Chinese medicine (TCM) investigates the clinical diagnosis and treatment regularities in a typical schema of personalized medicine, which means that individualized patients with same diseases would obtain distinct diagnosis and optimal treatment from different TCM physicians. This principle has been recognized and adhered by TCM clinical practitioners for thousands of years. However, the underlying mechanisms of TCM personalized medicine are not fully investigated so far and remained unknown. This paper discusses framework of TCM personalized medicine in classic literatures and in real-world clinical settings, and investigates the underlying mechanisms of TCM personalized medicine from the perspectives of network medicine. Based on 246 well-designed outpatient records on insomnia, by evaluating the personal biases of manifestation observation and preferences of herb prescriptions, we noted significant similarities between each herb prescriptions and symptom similarities between each encounters. To investigate the underlying mechanisms of TCM personalized medicine, we constructed a clinical phenotype network (CPN), in which the clinical phenotype entities like symptoms and diagnoses are presented as nodes and the correlation between these entities as links. This CPN is used to investigate the promiscuous boundary of syndromes and the co-occurrence of symptoms. The small-world topological characteristics are noted in the CPN with high clustering structures, which provide insight on the rationality of TCM personalized diagnosis and treatment. The investigation on this network would help us to gain understanding on the underlying mechanism of TCM personalized medicine and would propose a new perspective for the refinement of the TCM individualized clinical skills.

  6. Personalized medicine in diabetes mellitus: current opportunities and future prospects

    PubMed Central

    Kleinberger, Jeffrey W.; Pollin, Toni I.

    2015-01-01

    Diabetes mellitus affects approximately 382 million individuals worldwide and is a leading cause of morbidity and mortality. Over 40 and nearly 80 genetic loci influencing susceptibility to type 1 and type 2 diabetes, respectively, have been identified. Additionally, there is emerging evidence that some genetic variants help to predict response to treatment. Other variants confer apparent protection from diabetes or its complications and may lead to development of novel treatment approaches. Currently, there is clear clinical utility to genetic testing to find the at least 1% of diabetic individuals who have monogenic diabetes (e.g., maturity onset diabetes of the young and KATP channel neonatal diabetes). Diagnosing many of these currently underdiagnosed types of diabetes enables personalized treatment, resulting in improved and less invasive glucose control, better prediction of prognosis, and enhanced familial risk assessment. Efforts to enhance the rate of detection, diagnosis, and personalized treatment of individuals with monogenic diabetes should set the stage for effective clinical translation of current genetic, pharmacogenetic, and pharmacogenomic research of more complex forms of diabetes. PMID:25907167

  7. Personalized medicine in diabetes mellitus: current opportunities and future prospects.

    PubMed

    Kleinberger, Jeffrey W; Pollin, Toni I

    2015-06-01

    Diabetes mellitus affects approximately 382 million individuals worldwide and is a leading cause of morbidity and mortality. Over 40 and nearly 80 genetic loci influencing susceptibility to type 1 and type 2 diabetes, respectively, have been identified. In addition, there is emerging evidence that some genetic variants help to predict response to treatment. Other variants confer apparent protection from diabetes or its complications and may lead to development of novel treatment approaches. Currently, there is clear clinical utility to genetic testing to find the at least 1% of diabetic individuals who have monogenic diabetes (e.g., maturity-onset diabetes of the young and KATP channel neonatal diabetes). Diagnosing many of these currently underdiagnosed types of diabetes enables personalized treatment, resulting in improved and less invasive glucose control, better prediction of prognosis, and enhanced familial risk assessment. Efforts to enhance the rate of detection, diagnosis, and personalized treatment of individuals with monogenic diabetes should set the stage for effective clinical translation of current genetic, pharmacogenetic, and pharmacogenomic research of more complex forms of diabetes.

  8. Narrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine neoplasias in Brazil.

    PubMed

    Toledo, Rodrigo A; Sekiya, Tomoko; Longuini, Viviane C; Coutinho, Flavia L; Lourenço, Delmar M; Toledo, Sergio P A

    2012-01-01

    The finished version of the human genome sequence was completed in 2003, and this event initiated a revolution in medical practice, which is usually referred to as the age of genomic or personalized medicine. Genomic medicine aims to be predictive, personalized, preventive, and also participative (4Ps). It offers a new approach to several pathological conditions, although its impact so far has been more evident in mendelian diseases. This article briefly reviews the potential advantages of this approach, and also some issues that may arise in the attempt to apply the accumulated knowledge from genomic medicine to clinical practice in emerging countries. The advantages of applying genomic medicine into clinical practice are obvious, enabling prediction, prevention, and early diagnosis and treatment of several genetic disorders. However, there are also some issues, such as those related to: (a) the need for approval of a law equivalent to the Genetic Information Nondiscrimination Act, which was approved in 2008 in the USA; (b) the need for private and public funding for genetics and genomics; (c) the need for development of innovative healthcare systems that may substantially cut costs (e.g. costs of periodic medical followup); (d) the need for new graduate and postgraduate curricula in which genomic medicine is emphasized; and (e) the need to adequately inform the population and possible consumers of genetic testing, with reference to the basic aspects of genomic medicine.

  9. Narrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine neoplasias in Brazil

    PubMed Central

    Toledo, Rodrigo A.; Sekiya, Tomoko; Longuini, Viviane C.; L. Coutinho, Flavia; Lourenço, Delmar M.; Toledo, Sergio P. A.

    2012-01-01

    The finished version of the human genome sequence was completed in 2003, and this event initiated a revolution in medical practice, which is usually referred to as the age of genomic or personalized medicine. Genomic medicine aims to be predictive, personalized, preventive, and also participative (4Ps). It offers a new approach to several pathological conditions, although its impact so far has been more evident in mendelian diseases. This article briefly reviews the potential advantages of this approach, and also some issues that may arise in the attempt to apply the accumulated knowledge from genomic medicine to clinical practice in emerging countries. The advantages of applying genomic medicine into clinical practice are obvious, enabling prediction, prevention, and early diagnosis and treatment of several genetic disorders. However, there are also some issues, such as those related to: (a) the need for approval of a law equivalent to the Genetic Information Nondiscrimination Act, which was approved in 2008 in the USA; (b) the need for private and public funding for genetics and genomics; (c) the need for development of innovative healthcare systems that may substantially cut costs (e.g. costs of periodic medical follow-up); (d) the need for new graduate and postgraduate curricula in which genomic medicine is emphasized; and (e) the need to adequately inform the population and possible consumers of genetic testing, with reference to the basic aspects of genomic medicine. PMID:22584698

  10. Empowering Personalized Medicine with Big Data and Semantic Web Technology: Promises, Challenges, and Use Cases.

    PubMed

    Panahiazar, Maryam; Taslimitehrani, Vahid; Jadhav, Ashutosh; Pathak, Jyotishman

    2014-10-01

    In healthcare, big data tools and technologies have the potential to create significant value by improving outcomes while lowering costs for each individual patient. Diagnostic images, genetic test results and biometric information are increasingly generated and stored in electronic health records presenting us with challenges in data that is by nature high volume, variety and velocity, thereby necessitating novel ways to store, manage and process big data. This presents an urgent need to develop new, scalable and expandable big data infrastructure and analytical methods that can enable healthcare providers access knowledge for the individual patient, yielding better decisions and outcomes. In this paper, we briefly discuss the nature of big data and the role of semantic web and data analysis for generating "smart data" which offer actionable information that supports better decision for personalized medicine. In our view, the biggest challenge is to create a system that makes big data robust and smart for healthcare providers and patients that can lead to more effective clinical decision-making, improved health outcomes, and ultimately, managing the healthcare costs. We highlight some of the challenges in using big data and propose the need for a semantic data-driven environment to address them. We illustrate our vision with practical use cases, and discuss a path for empowering personalized medicine using big data and semantic web technology.

  11. From big data analysis to personalized medicine for all: challenges and opportunities.

    PubMed

    Alyass, Akram; Turcotte, Michelle; Meyre, David

    2015-06-27

    Recent advances in high-throughput technologies have led to the emergence of systems biology as a holistic science to achieve more precise modeling of complex diseases. Many predict the emergence of personalized medicine in the near future. We are, however, moving from two-tiered health systems to a two-tiered personalized medicine. Omics facilities are restricted to affluent regions, and personalized medicine is likely to widen the growing gap in health systems between high and low-income countries. This is mirrored by an increasing lag between our ability to generate and analyze big data. Several bottlenecks slow-down the transition from conventional to personalized medicine: generation of cost-effective high-throughput data; hybrid education and multidisciplinary teams; data storage and processing; data integration and interpretation; and individual and global economic relevance. This review provides an update of important developments in the analysis of big data and forward strategies to accelerate the global transition to personalized medicine.

  12. Nutrigenetics and nutraceuticals: the next wave riding on personalized medicine.

    PubMed

    Subbiah, M T Ravi

    2007-02-01

    The Human Genome Project and subsequent identification of single nucleotide polymorphisms (SNPs) within populations has played a major role in predicting individual response to drugs (pharmacogenetics) leading to the concept of "personalized medicine." Nutritional genomics is a recent off-shoot of this genetic revolution that includes (1) nutrigenomics: the study of interaction of dietary components with the genome and the resulting proteonomic and metabolomic changes; and (2) nutrigenetics: understanding the gene-based differences in response to dietary components and developing nutraceuticals that are most compatible with health based on individual genetic makeup. Despite the extensive data on genetic polymorphisms in humans, its translation into medical practice has been slow because of the time required to accumulate population data on SNP incidence, understand the significance of a given SNP in disease, and develop suitable diagnostic tests. Nutrigenomics revitalized the field by showing that nutrients and botanicals can interact with the genome and modify subsequent gene expression, which has provided a great impetus for nutrigenetic research and nutraceutical development based on nutrigenetics. Polymorphisms in methlyene tetrahydrofolate reductase (MTHFR) (involved in folate metabolism), apolipoprotein E (Apo E) and ApoA1 (in cardiovascular disease), and leptin/leptin receptor (obesity) genes are some good examples for understanding basic nutrigenetics. Developing nutraceuticals to prevent and manage thrombosis risk in women with thrombophilic gene mutations are discussed in the context of the opportunities that exist at the nutrigenetic/pharmacogenetic interphase leading to "personalized nutrition." Further research on individual differences in genetic profiles and nutrient requirements will help establish nutrigenetics as an essential discipline for nutrition and dietetics practice.

  13. Ontological knowledge engine and health screening data enabled ubiquitous personalized physical fitness (UFIT).

    PubMed

    Su, Chuan-Jun; Chiang, Chang-Yu; Chih, Meng-Chun

    2014-03-07

    Good physical fitness generally makes the body less prone to common diseases. A personalized exercise plan that promotes a balanced approach to fitness helps promotes fitness, while inappropriate forms of exercise can have adverse consequences for health. This paper aims to develop an ontology-driven knowledge-based system for generating custom-designed exercise plans based on a user's profile and health status, incorporating international standard Health Level Seven International (HL7) data on physical fitness and health screening. The generated plan exposing Representational State Transfer (REST) style web services which can be accessed from any Internet-enabled device and deployed in cloud computing environments. To ensure the practicality of the generated exercise plans, encapsulated knowledge used as a basis for inference in the system is acquired from domain experts. The proposed Ubiquitous Exercise Plan Generation for Personalized Physical Fitness (UFIT) will not only improve health-related fitness through generating personalized exercise plans, but also aid users in avoiding inappropriate work outs.

  14. Ontological Knowledge Engine and Health Screening Data Enabled Ubiquitous Personalized Physical Fitness (UFIT)

    PubMed Central

    Su, Chuan-Jun; Chiang, Chang-Yu; Chih, Meng-Chun

    2014-01-01

    Good physical fitness generally makes the body less prone to common diseases. A personalized exercise plan that promotes a balanced approach to fitness helps promotes fitness, while inappropriate forms of exercise can have adverse consequences for health. This paper aims to develop an ontology-driven knowledge-based system for generating custom-designed exercise plans based on a user's profile and health status, incorporating international standard Health Level Seven International (HL7) data on physical fitness and health screening. The generated plan exposing Representational State Transfer (REST) style web services which can be accessed from any Internet-enabled device and deployed in cloud computing environments. To ensure the practicality of the generated exercise plans, encapsulated knowledge used as a basis for inference in the system is acquired from domain experts. The proposed Ubiquitous Exercise Plan Generation for Personalized Physical Fitness (UFIT) will not only improve health-related fitness through generating personalized exercise plans, but also aid users in avoiding inappropriate work outs. PMID:24608002

  15. Statistical consideration and challenges in bridging study of personalized medicine.

    PubMed

    Li, Meijuan

    2015-01-01

    Applications of personalized medicine are becoming increasingly prominent. A well-characterized market-ready companion diagnostic assay (CDx) is often desired for patient enrollment in device-drug pivotal clinical trial(s) so that Food and Drug Administration can ensure that appropriate clinical and analytical validation studies are planned and carried out for CDx. However, such a requirement may be difficult or impractical to accomplish. A clinical trial assay (CTA) instead of CDx may be used for patient enrollment in the clinical trial. A concordance study (or bridging study) will be required to assess the agreement between CDx and CTA in order to bridge the clinical data (e.g. overall survival) from CTA to CDx and to evaluate the drug efficacy in CDx intended use population. In this article, we will discuss statistical challenges in study design and data analysis for bridging study. Particularly, we aimed to provide statistical methods on how to estimate the drug efficacy in CDx intended use population using results from bridging study and CTA-drug pivotal clinical trial.

  16. Personalized medicine for targeted and platinum-based chemotherapy of lung and bladder cancer

    PubMed Central

    Cimino, George D; Pan, Chong-xian; Henderson, Paul T

    2013-01-01

    The personalized medicine revolution is occurring for cancer chemotherapy. Biomarkers are increasingly capable of distinguishing genotypic or phenotypic traits of individual tumors, and are being linked to the selection of treatment protocols. This review covers the molecular basis for biomarkers of response to targeted and cytotoxic lung and bladder cancer treatment with an emphasis on platinum-based chemotherapy. Platinum derivatives are a class of drugs commonly employed against solid tumors that kill cells by covalent attachment to DNA. Platinum–DNA adduct levels in patient tissues have been correlated to response and survival. The sensitivity and precision of adduct detection has increased to the point of enabling subtherapeutic dosing for diagnostics applications, termed diagnostic microdosing, prior to the initiation of full-dose therapy. The clinical status of this unique phenotypic marker for lung and bladder cancer applications is detailed along with discussion of future applications. PMID:23394702

  17. Personalized medicine--a tailored health care system: challenges and opportunities.

    PubMed

    Louca, Soulla

    2012-06-01

    The vision of the future health care should be a system in which patient care is consistently improved through the use of information on the individual patient's genomes and their downstream products. This requires the exploration of strategic relationships among various disciplines such as life sciences, mathematics, physics, chemistry, and information and communication technology, and constellation thinking to propose new ways for the diagnosis and therapy of diseases, integrated with a planned trans-disciplinary scientific approach involving all interested parties. Connecting high-quality trans-disciplinary scientists on a pan-European level through programs such as the Cooperation in Science and Technology (COST) can support capacity building and increase the impact of personalized medicine research on regulatory bodies, decision makers, pharmaceutical and insurance companies, and the paying public. Such group effort could enable breakthrough scientific developments leading to new concepts and products and thereby contributing to the strengthening of Europe's research and innovation capacity while reforming the health care system.

  18. Sex/gender medicine. The biological basis for personalized care in cardiovascular medicine.

    PubMed

    Arain, Faisal A; Kuniyoshi, Fatima H; Abdalrhim, Ahmed D; Miller, Virginia M

    2009-10-01

    Sex differences in morbidity and mortality associated with cardiovascular disease have been recognized by the medical community for decades. Investigation into the underlying biological basis of these differences was largely neglected by the scientific community until a report released by the Institute of Medicine in the United States in 2001 "Exploring the Biological Contributions to Human Health: Does Sex Matter?" Recommendations from this report included the need for more accurate use of the terms "sex" and "gender", better tools and resources to study the biological basis of sex differences, integration of findings from different levels of biological organization and continued synergy between basic and clinical researchers. Ten years after the Institute's report, this review evaluates some of the sex differences in cardiovascular disease, reviews new approaches to study sex differences and emphasizes areas where further research is required. In the era of personalized medicine, the study of the biological basis of sex differences promises to optimize preventive, diagnostic and therapeutic strategies for cardiovascular disease in men and women, but will require diligence by the scientific and medical communities to remember that sex does matter.

  19. Neuromolecular imaging, a nanobiotechnology for Parkinson's disease: advancing pharmacotherapy for personalized medicine.

    PubMed

    Broderick, P A; Wenning, L; Li, Y-S

    2017-01-01

    Evaluating each patient and animal as its own control achieves personalized medicine, which honors the hippocratic philosophy, explaining that "it is far more important to know what person has the disease than what disease the person has." Similarly, individualizing molecular signaling directly from the patient's brain in real time is essential for providing prompt, patient-based treatment as dictated by the point of care. Fortunately, nanotechnology effectively treats many neurodegenerative diseases. In particular, the new medicinal frontier for the discovery of therapy for Parkinson's disease is nanotechnology and nanobiotechnology. Indeed, the unique nanotechnology of neuromolecular imaging combined with the series of nanobiosensors enables continuous videotracking of molecular neurotransmitters in both the normal physiologic and disease states with long-term electrochemical operational stability. This nanobiotechnology is able to track a signal in real time with excellent temporal and spatial resolution directly from each patient's brain to a computer as subjects are behaving during movement, normal and/or dysfunctional including prion-like Parkinson's behavioral biometrics. Moreover, the molecular signaling performed by these nanobiosensors live streams directly online and originates from precise neuroanatomic brain sites such as, in this case, the dorsal striatum in basal ganglia. Thus, the nanobiotechnology studies discussed herein imaged neuromolecules with and without L-3,4-dihydroxyphenylalanine (L-DOPA) in dorsal striatal basal ganglia neurons. Parkinsonian and non-Parkinsonian animals were video-tracked, and images were readily seen on a laptop via a potentiostat using a semiderivative electrical circuit. Administered L-DOPA doses were 50 and 100 mg/kg intraperitoneally (ip); the same experimental paradigm was used to image and then contrast data. Results showed that the baseline release of biogenic amine molecules was significantly above detection

  20. Deep brain stimulation, brain maps and personalized medicine: lessons from the human genome project.

    PubMed

    Fins, Joseph J; Shapiro, Zachary E

    2014-01-01

    Although the appellation of personalized medicine is generally attributed to advanced therapeutics in molecular medicine, deep brain stimulation (DBS) can also be so categorized. Like its medical counterpart, DBS is a highly personalized intervention that needs to be tailored to a patient's individual anatomy. And because of this, DBS like more conventional personalized medicine, can be highly specific where the object of care is an N = 1. But that is where the similarities end. Besides their differing medical and surgical provenances, these two varieties of personalized medicine have had strikingly different impacts. The molecular variant, though of a more recent vintage has thrived and is experiencing explosive growth, while DBS still struggles to find a sustainable therapeutic niche. Despite its promise, and success as a vetted treatment for drug resistant Parkinson's Disease, DBS has lagged in broadening its development, often encountering regulatory hurdles and financial barriers necessary to mount an adequate number of quality trials. In this paper we will consider why DBS-or better yet neuromodulation-has encountered these challenges and contrast this experience with the more successful advance of personalized medicine. We will suggest that personalized medicine and DBS's differential performance can be explained as a matter of timing and complexity. We believe that DBS has struggled because it has been a journey of scientific exploration conducted without a map. In contrast to molecular personalized medicine which followed the mapping of the human genome and the Human Genome Project, DBS preceded plans for the mapping of the human brain. We believe that this sequence has given personalized medicine a distinct advantage and that the fullest potential of DBS will be realized both as a cartographical or electrophysiological probe and as a modality of personalized medicine.

  1. Personalized medicine: will dentistry ride the wave or watch from the beach?

    PubMed

    Kornman, K S; Duff, G W

    2012-07-01

    Human differences in disease phenotype and treatment responses are well documented. Technological advances now allow healthcare providers to improve the prevention and treatment of chronic diseases by stratifying patient populations. Although personalized medicine has great promise, it has, so far, been primarily applied in oncology. Wider adoption requires changes in the healthcare system and in clinical decision-making, and early applications of personalized medicine appear to require strong clinical utility and sufficient value to drive adoption. Personalized medicine is likely to enter dentistry as patients start to demand it and as new drugs are developed for pathways common to oral diseases.

  2. Personalized Medicine Enrichment Design for DHA Supplementation Clinical Trial.

    PubMed

    Lei, Yang; Mayo, Matthew S; Carlson, Susan E; Gajewski, Byron J

    2017-03-01

    Personalized medicine aims to match patient subpopulation to the most beneficial treatment. The purpose of this study is to design a prospective clinical trial in which we hope to achieve the highest level of confirmation in identifying and making treatment recommendations for subgroups, when the risk levels in the control arm can be ordered. This study was motivated by our goal to identify subgroups in a DHA (docosahexaenoic acid) supplementation trial to reduce preterm birth (gestational age<37 weeks) rate. We performed a meta-analysis to obtain informative prior distributions and simulated operating characteristics to ensure that overall Type I error rate was close to 0.05 in designs with three different models: independent, hierarchical, and dynamic linear models. We performed simulations and sensitivity analysis to examine the subgroup power of models and compared results to a chi-square test. We performed simulations under two hypotheses: a large overall treatment effect and a small overall treatment effect. Within each hypothesis, we designed three different subgroup effects scenarios where resulting subgroup rates are linear, flat, or nonlinear. When the resulting subgroup rates are linear or flat, dynamic linear model appeared to be the most powerful method to identify the subgroups with a treatment effect. It also outperformed other methods when resulting subgroup rates are nonlinear and the overall treatment effect is big. When the resulting subgroup rates are nonlinear and the overall treatment effect is small, hierarchical model and chi-square test did better. Compared to independent and hierarchical models, dynamic linear model tends to be relatively robust and powerful when the control arm has ordinal risk subgroups.

  3. Between hype and hope: What is really at stake with personalized medicine?

    PubMed

    Abettan, Camille

    2016-09-01

    Over the last decade, personalized medicine has become a buzz word, which covers a broad spectrum of meanings and generates many different opinions. The purpose of this article is to achieve a better understanding of the reasons why personalized medicine gives rise to such conflicting opinions. We show that a major issue of personalized medicine is the gap existing between its claims and its reality. We then present and analyze different possible reasons for this gap. We propose an hypothesis inspired by the Windelband's distinction between nomothetic and idiographic methodology. We argue that the fuzzy situation of personalized medicine results from a mix between idiographic claims and nomothetic methodological procedures. Hence we suggest that the current quandary about personalized medicine cannot be solved without getting involved in a discussion about the complex epistemological and methodological status of medicine. To conclude, we show that the Gadamer's view of medicine as a dialogical process can be fruitfully used and reveals that personalization is not a theoretical task, but a practical one, which takes place within the clinical encounter.

  4. Incorporating imaging into personalized medicine for the detection of prostate cancer: Pharmacological research-Urogenital pharmacology.

    PubMed

    Mertan, Francesca; Turkbey, Baris

    2016-12-01

    Imaging has played an important role in the administration of personalized medicine. From diagnosing diseases to guiding therapies, imaging has become an all-encompassing modality. With respect to prostate cancer, personalized management of the disease has been transformed by imaging. Specifically, multiparametric magnetic resonance imaging has emerged as a vital player in the detection, characterization, and localization of the disease thus making the incorporation of imaging in personalized prostate cancer management integral. In this review, the current role of imaging in personalized medicine for the management of prostate cancer is discussed.

  5. The Geneva Conferences and the emergence of the International Network for Person-centered Medicine.

    PubMed

    Mezzich, Juan E

    2011-04-01

    The yearly Geneva Conferences on Person-centered Medicine started in May 2008 as a collaborative effort of global medical and health organizations and committed clinicians and scholars to place the whole person at the centre of medicine and health care. They were informed by the traditions of great ancient civilizations and recent developments in clinical care and public health. The process of the Geneva Conferences led to the development of the International Network for Person-centered Medicine as a non-for-profit institution aimed at organizing future editions of the Geneva Conference and building person-centred medicine as a paradigmatic repriorizing of the medical and health fields in collaboration inter alia with the World Medical Association, the World Health Organization and the World Organization of Family Doctors.

  6. ePatient Conference Explores Future of Personalized Medicine | NIH MedlinePlus the Magazine

    MedlinePlus

    ... D. FNLM Chairman How are computer networks and digital technologies changing the future of health care? Will ... and your healthcare provider communicate better in the digital future? What is personalized medicine? Some of the ...

  7. (Video 8 of 8) Omics: Advancing Personalized Medicine from Space to Earth

    NASA Video Gallery

    NASA’s Human Research Program (HRP) is releasing the video “Omics: Advancing Personalized Medicine from Space to Earth”, to highlight its Twins Study, coinciding with National Twins Days. This is t...

  8. Personalized medicine and treatment approaches in hypertension: current perspectives

    PubMed Central

    Byrd, James Brian

    2016-01-01

    In the US, hypertension affects one in three adults. Current guideline-based treatment of hypertension involves little diagnostic testing. A more personalized approach to the treatment of hypertension might be of use. Several methods of personalized treatment have been proposed and vetted to varying degrees. The purpose of this narrative review is to discuss the rationale for personalized therapy in hypertension, barriers to its development and implementation, some influential examples of proposed personalization measures, and a view of future efforts. PMID:27103841

  9. The faces of personalized medicine: a framework for understanding its meaning and scope.

    PubMed

    Redekop, W Ken; Mladsi, Deirdre

    2013-01-01

    The objective of this article was to provide a framework for understanding the different definitions of the term "personalized medicine." The term personalized medicine is used regularly but interpreted in different ways. This article approaches the term by starting with a broad view of clinical medicine, where three components can be distinguished: the questions (e.g., what is the diagnosis?), the methods used to answer them (e.g., a test), and the available actions (e.g., to give or not give a particular drug). Existing definitions of personalized medicine disagree about which questions, methods, and actions fall within its domain. Some define the term narrowly, referring to the use of a diagnostic test to predict drug response, thereby clarifying whether or not a patient will benefit from that drug. An example of this combination is the HER2/neu test to predict the effectiveness of trastuzumab in breast cancer. Many who adopt this definition associate the concept of personalized medicine with fields such as genetics, genomics, and other types of "-omics." In contrast, others view personalized medicine as a concept that has always existed, because medicine has always considered the needs of the individual. One definition of personalized medicine that accommodates both interpretations is "the use of combined knowledge (genetic or otherwise) about a person to predict disease susceptibility, disease prognosis, or treatment response and thereby improve that person's health." This predictive ability can increase over time through innovations in various technologies, resulting in further improvements in health outcomes. Moreover, these developments can lead to a better understanding of the underlying causes of disease, which can eventually lead to breakthroughs in the treatment of individual patients. In that sense, a truly personalized form of medicine can also be seen as an ideal, a goal that will be achieved only after multiple advances in science. Although the term

  10. Prediction of Cancer Drug Resistance and Implications for Personalized Medicine

    PubMed Central

    Volm, Manfred; Efferth, Thomas

    2015-01-01

    treatment options, such as antibody therapy, adoptive immune therapy, hyperthermia, gene therapy, etc. The high accuracy to predict resistant tumors may be exploited to develop new strategies for individualized cancer therapy. This new concept bears the potential of a revival of predictive tests for personalized medicine. PMID:26734568

  11. Translation in Data Mining to Advance Personalized Medicine for Health Equity.

    PubMed

    Estape, Estela S; Mays, Mary Helen; Sternke, Elizabeth A

    2016-01-01

    Personalized medicine is the development of 'tailored' therapies that reflect traditional medical approaches, with the incorporation of the patient's unique genetic profile and the environmental basis of the disease. These individualized strategies encompass disease prevention, diagnosis, as well as treatment strategies. Today's healthcare workforce is faced with the availability of massive amounts of patient- and disease-related data. When mined effectively, these data will help produce more efficient and effective diagnoses and treatment, leading to better prognoses for patients at both the individual and population level. Designing preventive and therapeutic interventions for those patients who will benefit most while minimizing side effects and controlling healthcare costs, requires bringing diverse data sources together in an analytic paradigm. A resource to clinicians in the development and application of personalized medicine is largely facilitated, perhaps even driven, by the analysis of "big data". For example, the availability of clinical data warehouses is a significant resource for clinicians in practicing personalized medicine. These "big data" repositories can be queried by clinicians, using specific questions, with data used to gain an understanding of challenges in patient care and treatment. Health informaticians are critical partners to data analytics including the use of technological infrastructures and predictive data mining strategies to access data from multiple sources, assisting clinicians' interpretation of data and development of personalized, targeted therapy recommendations. In this paper, we look at the concept of personalized medicine, offering perspectives in four important, influencing topics: 1) the availability of 'big data' and the role of biomedical informatics in personalized medicine, 2) the need for interdisciplinary teams in the development and evaluation of personalized therapeutic approaches, and 3) the impact of

  12. Driving forces behind the past and future emergence of personalized medicine.

    PubMed

    Steffen, Julius Alexander; Steffen, Jan Simon

    2013-01-17

    Personalized medicine can be seen as a continuously developing approach to tailoring treatments according to the individual characteristics of a patient. In some way, medicine has always been personalized. During the last decade, however, scientific and technological progress have made truly personalized healthcare increasingly become reality. Today's personalized medicine involves targeted therapies and diagnostic tests. The development of targeted agents represents a major investment opportunity to pharmaceutical companies, which have been facing the need to diversify their business due to an increasingly challenging market place. By investing into the development of personalized therapies, pharmaceutical companies mitigate a major part of the risks posed by factors such as patent expiries or generic competition. Viewing upon personalized medicine from different perspectives points out the multi-causality of its emergence. Research efforts and business diversification have been two main driving forces; they do supplement each other, however, are not jointly exhaustive in explaining the emergence of this approach. Especially in the future, a number of further stakeholders will impact the evolution of personalized medicine.

  13. Induced pluripotent stem cells (iPSCs) derived from different cell sources and their potential for regenerative and personalized medicine.

    PubMed

    Shtrichman, R; Germanguz, I; Itskovitz-Eldor, J

    2013-06-01

    Human induced pluripotent stem cells (hiPSCs) have great potential as a robust source of progenitors for regenerative medicine. The novel technology also enables the derivation of patient-specific cells for applications to personalized medicine, such as for personal drug screening and toxicology. However, the biological characteristics of iPSCs are not yet fully understood and their similarity to human embryonic stem cells (hESCs) is still unresolved. Variations among iPSCs, resulting from their original tissue or cell source, and from the experimental protocols used for their derivation, significantly affect epigenetic properties and differentiation potential. Here we review the potential of iPSCs for regenerative and personalized medicine, and assess their expression pattern, epigenetic memory and differentiation capabilities in relation to their parental tissue source. We also summarize the patient-specific iPSCs that have been derived for applications in biological research and drug discovery; and review risks that must be overcome in order to use iPSC technology for clinical applications.

  14. A Multi-Technique Reconfigurable Electrochemical Biosensor: Enabling Personal Health Monitoring in Mobile Devices.

    PubMed

    Sun, Alexander; Venkatesh, A G; Hall, Drew A

    2016-09-26

    This paper describes the design and characterization of a reconfigurable, multi-technique electrochemical biosensor designed for direct integration into smartphone and wearable technologies to enable remote and accurate personal health monitoring. By repurposing components from one mode to the next, the biosensor's potentiostat is able reconfigure itself into three different measurements modes to perform amperometric, potentiometric, and impedance spectroscopic tests all with minimal redundant devices. A [Formula: see text] PCB prototype of the module was developed with discrete components and tested using Google's Project Ara modular smartphone. The amperometric mode has a ±1 nA to [Formula: see text] measurement range. When used to detect pH, the potentiometric mode achieves a resolution of < 0.08 pH units. In impedance measurement mode, the device can measure 50 Ω-10 [Formula: see text] and has been shown to have of phase error. This prototype was used to perform several point-of-care health tracking assays suitable for use with mobile devices: 1) Blood glucose tests were conducted and shown to cover the diagnostic range for Diabetic patients (  ∼ 200 mg/dL). 2) Lactoferrin, a biomarker for urinary tract infections, was detected with a limit of detection of approximately 1 ng/mL. 3) pH tests of sweat were conducted to track dehydration during exercise. 4) EIS was used to determine the concentration of NeutrAvidin via a label-free assay.

  15. A Multi-Technique Reconfigurable Electrochemical Biosensor: Enabling Personal Health Monitoring in Mobile Devices.

    PubMed

    Sun, Alexander; Venkatesh, A G; Hall, Drew A

    2016-10-01

    This paper describes the design and characterization of a reconfigurable, multi-technique electrochemical biosensor designed for direct integration into smartphone and wearable technologies to enable remote and accurate personal health monitoring. By repurposing components from one mode to the next, the biosensor's potentiostat is able reconfigure itself into three different measurements modes to perform amperometric, potentiometric, and impedance spectroscopic tests all with minimal redundant devices. A [Formula: see text] PCB prototype of the module was developed with discrete components and tested using Google's Project Ara modular smartphone. The amperometric mode has a ±1 nA to [Formula: see text] measurement range. When used to detect pH, the potentiometric mode achieves a resolution of < 0.08 pH units. In impedance measurement mode, the device can measure 50 Ω-10 [Formula: see text] and has been shown to have of phase error. This prototype was used to perform several point-of-care health tracking assays suitable for use with mobile devices: 1) Blood glucose tests were conducted and shown to cover the diagnostic range for Diabetic patients (  ∼  200 mg/dL). 2) Lactoferrin, a biomarker for urinary tract infections, was detected with a limit of detection of approximately 1 ng/mL. 3) pH tests of sweat were conducted to track dehydration during exercise. 4) EIS was used to determine the concentration of NeutrAvidin via a label-free assay.

  16. The rights of persons with Disability Bill, 2014: How "enabling" is it for persons with mental illness?

    PubMed

    Rao, Gundugurti Prasad; Ramya, Vemulokonda Sri; Bada, Math Suresh

    2016-01-01

    India ratified the United Nations Convention on the Rights of Person with Disabilities (UNCRPD) in 2007. This is a welcome step towards realizing the rights of the persons with disability. The UNCRPD proclaims that disability results from interaction of impairments with attitudinal and environmental barriers which hinders full and active participation in society on an equal basis with others. Further, the convention also mandates the signatory governments to change their local laws, to identify and eliminate obstacles and barriers and to comply with the terms of the UNCRPD in order to protect the rights of the person with disabilities, hence the amendments of the national laws. Hence, the Government of India drafted two important bill the Right of Persons with Disabilities Bill, 2014 (RPWD Bill, 2014) and Mental Health Care Bill, 2013 (MHC Bill, 2013). There is no doubt that persons with mental illness are stigmatized and discriminated across the civil societies, which hinders full and active participation in society. This situation becomes worse with regard to providing mental health care, rehabilitation and social welfare measures to persons with mental illness. There is an urgent need to address this issue of attitudinal barrier so that the rights of persons with mental illness is upheld. Hence, this article discusses shortcomings in the Right of Persons with Disabilities Bill, 2014 (RPWD Bill, 2014) from the perspective of persons with mental illness. Further, the article highlights the need to synchronize both the RPWD Bill, 2014 and Mental Health Care Bill, 2013 to provide justice for persons with mental illness.

  17. Primary care providers’ experiences with and perceptions of personalized genomic medicine

    PubMed Central

    Carroll, June C.; Makuwaza, Tutsirai; Manca, Donna P.; Sopcak, Nicolette; Permaul, Joanne A.; O’Brien, Mary Ann; Heisey, Ruth; Eisenhauer, Elizabeth A.; Easley, Julie; Krzyzanowska, Monika K.; Miedema, Baukje; Pruthi, Sandhya; Sawka, Carol; Schneider, Nancy; Sussman, Jonathan; Urquhart, Robin; Versaevel, Catarina; Grunfeld, Eva

    2016-01-01

    Abstract Objective To assess primary care providers’ (PCPs’) experiences with, perceptions of, and desired role in personalized medicine, with a focus on cancer. Design Qualitative study involving focus groups. Setting Urban and rural interprofessional primary care team practices in Alberta and Ontario. Participants Fifty-one PCPs. Methods Semistructured focus groups were conducted and audiorecorded. Recordings were transcribed and analyzed using techniques informed by grounded theory including coding, interpretations of patterns in the data, and constant comparison. Main findings Five focus groups with the 51 participants were conducted; 2 took place in Alberta and 3 in Ontario. Primary care providers described limited experience with personalized medicine, citing breast cancer and prenatal care as main areas of involvement. They expressed concern over their lack of knowledge, in some circumstances relying on personal experiences to inform their attitudes and practice. Participants anticipated an inevitable role in personalized medicine primarily because patients seek and trust their advice; however, there was underlying concern about the magnitude of information and pace of discovery in this area, particularly in direct-to-consumer personal genomic testing. Increased knowledge, closer ties to genetics specialists, and relevant, reliable personalized medicine resources accessible at the point of care were reported as important for successful implementation of personalized medicine. Conclusion Primary care providers are prepared to discuss personalized medicine, but they require better resources. Models of care that support a more meaningful relationship between PCPs and genetics specialists should be pursued. Continuing education strategies need to address knowledge gaps including direct-to-consumer genetic testing, a relatively new area provoking PCP concern. Primary care providers should be mindful of using personal experiences to guide care. PMID:27737998

  18. Personalized medicine in women's obesity prevention and treatment: implications for research, policy and practice.

    PubMed

    Yang, N; Ginsburg, G S; Simmons, L A

    2013-02-01

    The prevalence of obesity in America has reached epidemic proportions, and obesity among women is particularly concerning. Severe obesity (body mass index ≥35 kg m(-2) ) is more prevalent in women than men. Further, women have sex-specific risk factors that must be considered when developing preventive and therapeutic interventions. This review presents personalized medicine as a dynamic approach to obesity prevention, management and treatment for women. First, we review obesity as a complex health issue, with contributing sex-specific, demographic, psychosocial, behavioural, environmental, epigenetic and genetic/genomic risk factors. Second, we present personalized medicine as a rapidly advancing field of health care that seeks to quantify these complex risk factors to develop more targeted and effective strategies that can improve disease management and/or better minimize an individual's likelihood of developing obesity. Third, we discuss how personalized medicine can be applied in a clinical setting with current and emerging tools, including health risk assessments, personalized health plans, and strategies for increasing patient engagement. Finally, we discuss the need for additional research, training and policy that can enhance the practice of personalized medicine in women's obesity, including further advancements in the '-omics' sciences, physician training in personalized medicine, and additional development and standardization of innovative targeted therapies and clinical tools.

  19. Marijuana: A Fifty-Year Personal Addiction Medicine Perspective.

    PubMed

    Smith, David E

    2016-01-01

    As of September 2015, the cultivation, possession, and/or use of marijuana is illegal under U.S. federal law as a Schedule I narcotic; however, it is legal in four states and Washington, D.C. Forty-six states allow some form of medicinal marijuana or decriminalization. Marijuana has been used medicinally for thousands of years; Marijuana's regulation by law enforcement in the U.S., rather than the medical community, led to an almost complete halt to academic and scientific research after the 1930s. The late 1960s saw an upsurge in recreational marijuana use by middle-class youth, the majority of whom experienced minimal adverse effects aside from arrest and attendant legal complications. Since the mid-1990s, the use of medicinal marijuana for certain conditions has gained increasing acceptance. Stronger strains and formulations of marijuana pose a risk to the developing brains of adolescents. Within the addiction medicine community, there is currently no consensus on marijuana. In the East, the feeling is primarily that marijuana continue to be proscribed. In the West, where clinicians must face the realities of medicalization, decriminalization, and/or legalization, as well as widespread recreational use, there is more of a movement to minimize adverse effects, particularly on youth.

  20. Personalized Genomic Medicine with a Patchwork, Partially Owned Genome

    PubMed Central

    Mason, Christopher E.; Seringhaus, Michael R.; Sattler de Sousa e Brito, Clara

    2008-01-01

    “His book was known as the Book of Sand, because neither the book nor the sand have any beginning or end.” — Jorge Luis Borges The human genome is a three billion-letter recipe for the genesis of a human being, directing development from a single-celled embryo to the trillions of adult cells. Since the sequencing of the human genome was announced in 2001, researchers have an increased ability to discern the genetic basis for diseases. This reference genome has opened the door to genomic medicine, aimed at detecting and understanding all genetic variations of the human genome that contribute to the manifestation and progression of disease. The overarching vision of genomic (or “personalized”) medicine is to custom-tailor each treatment for maximum effectiveness in an individual patient. Detecting the variation in a patient’s deoxyribonucleic acid (DNA), ribonucleic acid (RNA), and protein structures is no longer an insurmountable hurdle. Today, the challenge for genomic medicine lies in contextualizing those myriad genetic variations in terms of their functional consequences for a person’s health and development throughout life and in terms of that patient’s susceptibility to disease and differential clinical responses to medication. Additionally, several recent developments have complicated our understanding of the nominal human genome and, thereby, altered the progression of genomic medicine. In this brief review, we shall focus on these developments and examine how they are changing our understanding of our genome. PMID:18449389

  1. Benefits, issues, and recommendations for personalized medicine in oncology in Canada.

    PubMed

    Butts, C; Kamel-Reid, S; Batist, G; Chia, S; Blanke, C; Moore, M; Sawyer, M B; Desjardins, C; Dubois, A; Pun, J; Bonter, K; Ashbury, F D

    2013-10-01

    The burden of cancer for Canadian citizens and society is large. New technologies have the potential to increase the use of genetic information in clinical decision-making, furthering prevention, surveillance, and safer, more effective drug therapies for cancer patients. Personalized medicine can have different meanings to different people. The context for personalized medicine in the present paper is genetic testing, which offers the promise of refining treatment decisions for those diagnosed with chronic and life-threatening illnesses. Personalized medicine and genetic characterization of tumours can also give direction to the development of novel drugs. Genetic testing will increasingly become an essential part of clinical decision-making. In Canada, provinces are responsible for health care, and most have unique policies and programs in place to address cancer control. The result is inconsistency in access to and delivery of therapies and other interventions, beyond the differences expected because of demographic factors and clinical education. Inconsistencies arising from differences in resources, policy, and application of evidence-informed personalized cancer medicine exacerbate patient access to appropriate testing and quality care. Geographic variations in cancer incidence and mortality rates in Canada-with the Atlantic provinces and Quebec having higher rates, and British Columbia having the lowest rates-are well documented. Our purpose here is to provide an understanding of current and future applications of personalized medicine in oncology, to highlight the benefits of personalized medicine for patients, and to describe issues and opportunities for improvement in the coordination of personalized medicine in Canada. Efficient and more rapid adoption of personalized medicine in oncology in Canada could help overcome those issues and improve cancer prevention and care. That task might benefit from the creation of a National Genetics Advisory Panel that

  2. Personalized Medicine in a New Genomic Era: Ethical and Legal Aspects.

    PubMed

    Shoaib, Maria; Rameez, Mansoor Ali Merchant; Hussain, Syed Ather; Madadin, Mohammed; Menezes, Ritesh G

    2016-11-28

    The genome of two completely unrelated individuals is quite similar apart from minor variations called single nucleotide polymorphisms which contribute to the uniqueness of each and every person. These single nucleotide polymorphisms are of great interest clinically as they are useful in figuring out the susceptibility of certain individuals to particular diseases and for recognizing varied responses to pharmacological interventions. This gives rise to the idea of 'personalized medicine' as an exciting new therapeutic science in this genomic era. Personalized medicine suggests a unique treatment strategy based on an individual's genetic make-up. Its key principles revolve around applied pharmaco-genomics, pharmaco-kinetics and pharmaco-proteomics. Herein, the ethical and legal aspects of personalized medicine in a new genomic era are briefly addressed. The ultimate goal is to comprehensively recognize all relevant forms of genetic variation in each individual and be able to interpret this information in a clinically meaningful manner within the ambit of ethical and legal considerations. The authors of this article firmly believe that personalized medicine has the potential to revolutionize the current landscape of medicine as it makes its way into clinical practice.

  3. Selective Access to Heterocyclic Sulfonamides and Sulfonyl Fluorides via a Parallel Medicinal Chemistry Enabled Method.

    PubMed

    Tucker, Joseph W; Chenard, Lois; Young, Joseph M

    2015-11-09

    A sulfur-functionalized aminoacrolein derivative is used for the efficient and selective synthesis of heterocyclic sulfonyl chlorides, sulfonyl fluorides, and sulfonamides. The development of a 3-step parallel medicinal chemistry (PMC) protocol for the synthesis of pyrazole-4-sulfonamides effectively demonstrates the utility of this reagent. This reactivity was expanded to provide rapid access to other heterocyclic sulfonyl fluorides, including pyrimidines and pyridines, whose corresponding sulfonyl chlorides lack suitable chemical stability.

  4. How can we realize the promise of personalized antidepressant medicines?

    PubMed

    Holsboer, Florian

    2008-08-01

    Personalized medication that is based on pharmacogenetic data has long been expected to improve the efficacy of treatments for neurological and psychiatric disorders, including depression. However, the complexity of the regulation of gene transcription and its interactions with environmental factors means that straightforward translation of individual genetic information into tailored treatment is unlikely. Nevertheless, when data from genomics, proteomics, metabolomics, neuroimaging and neuroendocrinology are used in combination, they could lead to the development of effective personalized antidepressant treatment that is based on both genotypes and biomarkers. This process will require many further steps and collaboration between basic and clinical neuroscience.

  5. Human iPSC-derived neurons and lymphoblastoid cells for personalized medicine research in neuropsychiatric disorders.

    PubMed

    Gurwitz, David

    2016-09-01

    The development and clinical implementation of personalized medicine crucially depends on the availability of high-quality human biosamples; animal models, although capable of modeling complex human diseases, cannot reflect the large variation in the human genome, epigenome, transcriptome, proteome, and metabolome. Although the biosamples available from public biobanks that store human tissues and cells may represent the large human diversity for most diseases, these samples are not always sufficient for developing biomarkers for patient-tailored therapies for neuropsychiatric disorders. Postmortem human tissues are available from many biobanks; nevertheless, collections of neuronal human cells from large patient cohorts representing the human diversity remain scarce. Two tools are gaining popularity for personalized medicine research on neuropsychiatric disorders: human induced pluripotent stem cell-derived neurons and human lymphoblastoid cell lines. This review examines and contrasts the advantages and limitations of each tool for personalized medicine research.

  6. Human iPSC-derived neurons and lymphoblastoid cells for personalized medicine research in neuropsychiatric disorders

    PubMed Central

    Gurwitz, David

    2016-01-01

    The development and clinical implementation of personalized medicine crucially depends on the availability of high-quality human biosamples; animal models, although capable of modeling complex human diseases, cannot reflect the large variation in the human genome, epigenome, transcriptome, proteome, and metabolome. Although the biosamples available from public biobanks that store human tissues and cells may represent the large human diversity for most diseases, these samples are not always sufficient for developing biomarkers for patient-tailored therapies for neuropsychiatric disorders. Postmortem human tissues are available from many biobanks; nevertheless, collections of neuronal human cells from large patient cohorts representing the human diversity remain scarce. Two tools are gaining popularity for personalized medicine research on neuropsychiatric disorders: human induced pluripotent stem cell-derived neurons and human lymphoblastoid cell lines. This review examines and contrasts the advantages and limitations of each tool for personalized medicine research. PMID:27757061

  7. Personalized medicine for breast cancer: it is a new day!

    PubMed

    Russell, Christy A

    2014-03-01

    Breast cancer remains the most common cancer diagnosed in women in the United States and is second only to lung cancer as a cause of cancer mortality. Breast cancer has become the prototypical solid tumor where targets have been identified within the tumor allowing for a personalized approach of systemic therapy.

  8. Printing Tablets with Fully Customizable Release Profiles for Personalized Medicine.

    PubMed

    Sun, Yajuan; Soh, Siowling

    2015-12-16

    Personalizing the release profiles of drugs is important for different people with different medical and biological conditions. A technically simple and low-cost method to fabricate fully customizable tablets that can deliver drugs with any type of release profile is described. The customization is intuitively straightforward: the desired profile can simply be "drawn" and printed by a 3D printer.

  9. [Use of personal computers in forensic medicine facilities].

    PubMed

    Vorel, F

    1995-08-01

    The authors present a brief account of possibilities to use computers, type PC, in departments of forensic medicine and discuss basic technical and programme equipment. In the author's opinion the basic reason for using computers is to create an extensive database of post-mortem findings which would make it possible to process them on a large scale and use them for research and prevention. Introduction of computers depends on the management of the department and it is necessary to persuade workers-future users of computers-of the advantages associated with their use.

  10. Imaging Mass Spectrometry: Enabling a New Age of Discovery in Biology and Medicine Through Molecular Microscopy

    PubMed Central

    Caprioli, Richard M.

    2015-01-01

    Imaging mass spectrometry (IMS) has become a valuable tool for the production of molecular maps in samples ranging from solid inorganic materials to biologicals such as cells and tissues. The unique features of IMS are its ability to map a wide variety of different types of molecules, its superb molecular specificity, and its potential for discovery since no target specific reagents are needed. IMS has made significant contributions in biology and medicine and promises to be a next generation tool in anatomic pathology. PMID:25801587

  11. Imaging Mass Spectrometry: Enabling a New Age of Discovery in Biology and Medicine Through Molecular Microscopy

    NASA Astrophysics Data System (ADS)

    Caprioli, Richard M.

    2015-06-01

    Imaging mass spectrometry (IMS) has become a valuable tool for the production of molecular maps in samples ranging from solid inorganic materials to biologicals such as cells and tissues. The unique features of IMS are its ability to map a wide variety of different types of molecules, its superb molecular specificity, and its potential for discovery since no target-specific reagents are needed. IMS has made significant contributions in biology and medicine and promises to be a next generation tool in anatomic pathology.

  12. Health 2050: The Realization of Personalized Medicine through Crowdsourcing, the Quantified Self, and the Participatory Biocitizen

    PubMed Central

    Swan, Melanie

    2012-01-01

    The concepts of health and health care are moving towards the notion of personalized preventive health maintenance and away from an exclusive focus on the cure of disease. This is against the backdrop of contemporary public health challenges that include increasing costs, worsening outcomes, ‘diabesity’ epidemics, and anticipated physician shortages. Personalized preventive medicine could be critical to solving public health challenges at their causal root. This paper sets forth a vision and plan for the realization of preventive medicine by 2050 and examines efforts already underway such as participatory health initiatives, the era of big health data, and qualitative shifts in mindset. PMID:25562203

  13. Health 2050: The Realization of Personalized Medicine through Crowdsourcing, the Quantified Self, and the Participatory Biocitizen.

    PubMed

    Swan, Melanie

    2012-09-12

    The concepts of health and health care are moving towards the notion of personalized preventive health maintenance and away from an exclusive focus on the cure of disease. This is against the backdrop of contemporary public health challenges that include increasing costs, worsening outcomes, 'diabesity' epidemics, and anticipated physician shortages. Personalized preventive medicine could be critical to solving public health challenges at their causal root. This paper sets forth a vision and plan for the realization of preventive medicine by 2050 and examines efforts already underway such as participatory health initiatives, the era of big health data, and qualitative shifts in mindset.

  14. Golden Helix Pharmacogenomics Days: educational activities on pharmacogenomics and personalized medicine.

    PubMed

    Squassina, Alessio; Severino, Giovanni; Grech, Godfrey; Fenech, Anthony; Borg, Joseph; Patrinos, George P

    2012-04-01

    The Golden Helix Pharmacogenomics Days are high-profile international educational scientific meetings discussing pharmacogenomics and personalized medicine. Here, we provide an overview of the scientific lectures and the topics discussed during the 4th Golden Helix Pharmacogenomics Day, held in Cagliari, Italy, on 7 October 2011, and the 5th Golden Helix Pharmacogenomics Day, that was held in Msida, Malta, on 3 December 2011. The scientific programs of both events included scientific and company lectures on pharmacogenomics, bioinformatics and personalized medicine by local and international speakers from Europe and the USA.

  15. New Strategies in Acute Myelogenous Leukemia: Leukemogenesis and Personalized Medicine

    PubMed Central

    Gojo, Ivana; Karp, Judith E.

    2014-01-01

    Recent advances in molecular technology have unraveled the complexity of leukemogenesis and provided the opportunity to design more personalized and pathophysiology-targeted therapeutic strategies. Despite the use of intensive chemotherapy, relapse remains the most common cause for therapeutic failure in acute myelogenous leukemia (AML). The interactions between leukemia stem cells (LSC) and marrow microenvironment appear to be critical in promoting therapeutic resistance through progressive acquisition of genetic and epigenetic changes within leukemia cells and immune evasion, resulting in leukemia cell survival. With advances in genomic sequencing efforts, epigenetic and phenotypic characterization, personalized therapeutic strategies aimed at critical leukemia survival mechanisms may be feasible in the near future. Here, we review select novel approaches to therapy of AML such as targeting LSC, altering leukemia/marrow microenvironment interactions, inhibiting DNA repair or cell cycle checkpoints, and augmenting immune-based anti-leukemia activity. PMID:25324141

  16. Preoperative Chemotherapy for Gastric Cancer: Personal Interventions and Precision Medicine

    PubMed Central

    Xu, Wei; Beeharry, Maneesh K.; Yan, Min; Zhu, Zhenggang

    2016-01-01

    In spite of the declining incidence of gastric cancer (GC) in recent years, the mortality rate is still high. The asymptomatic nature and nonspecific clinical manifestations combined with the lack of efficient screening programs delay the diagnosis of GC. Therefore, the prevalence of advanced gastric cancer (AGC) has prompted the need for aggressive and intensive treatment options. Among the various treatment options for AGC, surgery is still the mainstay. However, the efficacy of surgery alone is not established. Results from multiple randomized controlled trials suggest that preoperative chemotherapy is promising intervention for the treatment and management of AGC. The main objective of neoadjuvant chemotherapy is to downstage or control micrometastasis in resectable tumor before surgery. On the other hand, conversion chemotherapy refers to surgical treatment aiming at R0 resection after chemotherapy for originally nonresectable or marginally resectable tumors. Nevertheless, preoperative chemoradiotherapy is considered beneficial for AGC patients. Over the last few decades, the combination of chemotherapy and targeted therapy prior to surgery demonstrated great results for the treatment of AGC. The rapid developments in genomics and proteomics have heralded the era of precision medicine. The combination of preoperative chemotherapy and precision medicine may enhance survival in AGC patients. PMID:28105420

  17. Recent development on statistical methods for personalized medicine discovery.

    PubMed

    Zhao, Yingqi; Zeng, Donglin

    2013-03-01

    It is well documented that patients can show significant heterogeneous responses to treatments so the best treatment strategies may require adaptation over individuals and time. Recently, a number of new statistical methods have been developed to tackle the important problem of estimating personalized treatment rules using single-stage or multiple-stage clinical data. In this paper, we provide an overview of these methods and list a number of challenges.

  18. [Why Strive after Clinical Social Medicine? From Epidemiological Association to Personalized Social Medicine: a Case of Breast Cancer Care].

    PubMed

    Simoes, E; Sokolov, A N; Graf, J; Pavlova, M A; Brucker, S Y; Wallwiener, D; Schmahl, F W; Bamberg, M

    2016-02-01

    Advances in biomedicine, especially molecular biology and genetics, gave rise to the concept of personalized medicine targeting the patient's individual characteristics and needs to ensure the best possible therapy and healthcare. This concept, however, can be successfully implemented only if due consideration is given to (psycho-)social factors, as is shown for instance by considerably reduced post-therapy survival rates among cancer patients in regions with lower socioeconomic status, How breast cancer patients, for instance, find their way back to daily life and work after initial treatment at a breast center is substantially determined by multiple factors going beyond pure medical care. These factors critically affect health status and therapy outcomes, but are missing in current research agenda. A profound expertise in social medicine is required to respond in ways tailored to the individual's healthcare needs that go beyond just medical therapy. This expertise comprises, in particular, knowledge of inequality of access to healthcare due to varying health competence that in turn, results in inequality of health outcome and care. Competence in social medicine both in the clinic and outpatient care can help to individually target negative factors that originate from the social environment as well as from deficits in communication and coordination in the healthcare system and have an effect on the health status of patients..This, however, requires institutionalization of (clinical) social medicine and in particular, better opportunities for advanced training in social medicine in clinical departments and outpatient units.

  19. The continuum of personalized cardiovascular medicine: a position paper of the European Society of Cardiology.

    PubMed

    Kirchhof, Paulus; Sipido, Karin R; Cowie, Martin R; Eschenhagen, Thomas; Fox, Keith A A; Katus, Hugo; Schroeder, Stefan; Schunkert, Heribert; Priori, Silvia

    2014-12-07

    There is strong need to develop the current stratified practice of CVD management into a better personalized cardiovascular medicine, within a broad framework of global patient care. Clinical information obtained from history and physical examination, functional and imaging studies, biochemical biomarkers, genetic/epigenetic data, and pathophysiological insights into disease-driving processes need to be integrated into a new taxonomy of CVDs to allow personalized disease management. This has the potential for major health benefits for the population suffering from cardiovascular diseases.

  20. Personal reflections on exploring social media in medicine.

    PubMed

    Thoma, Brent

    2015-04-01

    Social media is difficult to explain to a physician who has never used it. The medical literature on its pitfalls and abuses has overshadowed its positive applications and made many physicians wary of it. While I was initially reluctant to develop my own presence on social media, since embracing it as a tool for teaching and learning I have developed a different perspective. I see it as a tool that can be used positively or negatively. Much like a megaphone, it can amplify our voice so that the impact of our work can extend beyond the borders of our institutions and countries. Aided by the guidance and support of mentors who used social media before and alongside me, it has helped me to become a more competent, professional, engaged, and impactful physician. Within this article I will share my story to illustrate the many ways that social media can be used to enhance the profession of medicine.

  1. [Relevance of personal contextual factors of the ICF for use in practical social medicine and rehabilitation].

    PubMed

    Grotkamp, S; Cibis, W; Bahemann, A; Baldus, A; Behrens, J; Nyffeler, I D; Echterhoff, W; Fialka-Moser, V; Fries, W; Fuchs, H; Gmünder, H P; Gutenbrunner, C; Keller, K; Nüchtern, E; Pöthig, D; Queri, S; Rentsch, H P; Rink, M; Schian, H-M; Schian, M; Schmitt, K; Schwarze, M; Ulrich, P; von Mittelstaedt, G; Seger, W

    2014-03-01

    Personal contextual factors play an essential part in the model of the International Classification of Functioning, Disability and Health (ICF). The WHO has not yet classified personal factors for global use although they impact on the functioning of persons positively or negatively. In 2010, the ICF working group of the German Society of Social Medicine and Prevention (DGSMP) presented a proposal for the classification of personal factors into 72 categories previously arranged in 6 chapters. Now a positioning paper has been added in order to stimulate a discussion about the fourth component of the ICF, to contribute towards a broader and common understanding about the nature of personal factors and to incite a dialogue among all those involved in health care as well as those people with or with-out health problems in order to gain a comprehensive perspective about a person's condition.

  2. Enabling Precision Medicine With Digital Case Classification at the Point-of-Care☆

    PubMed Central

    Obermeier, Patrick; Muehlhans, Susann; Hoppe, Christian; Karsch, Katharina; Tief, Franziska; Seeber, Lea; Chen, Xi; Conrad, Tim; Boettcher, Sindy; Diedrich, Sabine; Rath, Barbara

    2016-01-01

    Infectious and inflammatory diseases of the central nervous system are difficult to identify early. Case definitions for aseptic meningitis, encephalitis, myelitis, and acute disseminated encephalomyelitis (ADEM) are available, but rarely put to use. The VACC-Tool (Vienna Vaccine Safety Initiative Automated Case Classification-Tool) is a mobile application enabling immediate case ascertainment based on consensus criteria at the point-of-care. The VACC-Tool was validated in a quality management program in collaboration with the Robert-Koch-Institute. Results were compared to ICD-10 coding and retrospective analysis of electronic health records using the same case criteria. Of 68,921 patients attending the emergency room in 10/2010–06/2013, 11,575 were hospitalized, with 521 eligible patients (mean age: 7.6 years) entering the quality management program. Using the VACC-Tool at the point-of-care, 180/521 cases were classified successfully and 194/521 ruled out with certainty. Of the 180 confirmed cases, 116 had been missed by ICD-10 coding, 38 misclassified. By retrospective application of the same case criteria, 33 cases were missed. Encephalitis and ADEM cases were most likely missed or misclassified. The VACC-Tool enables physicians to ask the right questions at the right time, thereby classifying cases consistently and accurately, facilitating translational research. Future applications will alert physicians when additional diagnostic procedures are required. PMID:26981582

  3. Challenges posed to the European pharmaceutical regulatory system by highly personalized medicines

    PubMed Central

    Johnston, John D; Feldschreiber, Peter

    2014-01-01

    The European pharmaceutical regulatory system has not yet been challenged by issues related to highly personalized medicines such as those to be found with active substances that affect RNA biochemistry. We review the current status of RNA-based pharmacology and present three possible case histories. The implications for the European pharmaceutical regulatory system are discussed. PMID:23738917

  4. [Contribution of instruments and devices to medicine personalization].

    PubMed

    Brdička, Radim

    2014-01-01

    In this paper we are concerned not about "large and heavy", and very expensive medical instruments with high productivity, which are able to analyze enormous amounts of samples and are suitable to examine high number of patients - populations. We deal with much "smaller and lighter" devices, with limited range of targets, but effective for personal use. We observe something like a flood of these medgadgets, tools for individual testing. They can operate if placed both at the patients bed, on human body surface as well as inside the body and due to the progress in telecommunication technologies they can send information originating from their sensors via mobile phones or tablets, both to the patient and also to his physician (health care institution). The use of these devices has become available practically for all medical branches.

  5. Next-Generation Sequencing: From Understanding Biology to Personalized Medicine

    PubMed Central

    Frese, Karen S.; Katus, Hugo A.; Meder, Benjamin

    2013-01-01

    Within just a few years, the new methods for high-throughput next-generation sequencing have generated completely novel insights into the heritability and pathophysiology of human disease. In this review, we wish to highlight the benefits of the current state-of-the-art sequencing technologies for genetic and epigenetic research. We illustrate how these technologies help to constantly improve our understanding of genetic mechanisms in biological systems and summarize the progress made so far. This can be exemplified by the case of heritable heart muscle diseases, so-called cardiomyopathies. Here, next-generation sequencing is able to identify novel disease genes, and first clinical applications demonstrate the successful translation of this technology into personalized patient care. PMID:24832667

  6. The Importance of Functional Tests in Personalized Medicine

    PubMed Central

    Widmer, R. Jay; Lerman, Amir

    2013-01-01

    Cardiovascular disease is the most prevalent disease mainly in the Western society and becoming the leading cause of death worldwide. Standard methods by which healthcare providers screen for cardiovascular disease have only minimally reduced the burden of disease while exponentially increasing costs. As such, more specific and individualized methods for functionally assessing cardiovascular threats are needed to identify properly those at greatest risk, and appropriately treat these patients so as to avoid a fate such as heart attack, stroke, or death. Currently, endothelial function testing—in both the coronary and peripheral circulation—is well established as being associated with the disease process and future cardiovascular events. Improving such testing can lead to a reduction in the risk of future events. Combining this functional assessment of vascular fitness with other, more personalized, testing methods should serve to identify those at the greatest risk of cardiovascular disease earlier and subsequently reduce the affliction of such diseases worldwide. PMID:23908864

  7. "Personal Knowledge" in Medicine and the Epistemic Shortcomings of Scientism.

    PubMed

    McHugh, Hugh Marshall; Walker, Simon Thomas

    2015-12-01

    In this paper, we outline a framework for understanding the different kinds of knowledge required for medical practice and use this framework to show how scientism undermines aspects of this knowledge. The framework is based on Michael Polanyi's claim that knowledge is primarily the product of the contemplations and convictions of persons and yet at the same time carries a sense of universality because it grasps at reality. Building on Polanyi's ideas, we propose that knowledge can be described along two intersecting "dimensions": the tacit-explicit and the particular-general. These dimensions supersede the familiar "objective-subjective" dichotomy, as they more accurately describe the relationship between medical science and medical practice. Scientism, we argue, excludes tacit and particular knowledge and thereby distorts "clinical reality" and impairs medical practice and medical ethics.

  8. Soluble biomarkers development in osteoarthritis: from discovery to personalized medicine

    PubMed Central

    Henrotin, Yves; Sanchez, Christelle; Cornet, Anne; Van de Put, Joachim; Douette, Pierre; Gharbi, Myriam

    2015-01-01

    Abstract Context: Specific soluble biomarkers could be a precious tool for diagnosis, prognosis and personalized management of osteoarthritic (OA) patients. Objective: To describe the path of soluble biomarker development from discovery to clinical qualification and regulatory adoption toward OA-related biomarker qualification. Methods and results: This review summarizes current guidance on the use of biomarkers in OA in clinical trials and their utility at five stages, including preclinical development and phase 1 to phase 4 trials. It also presents all the available regulatory requirements. Conclusions: The path through the adoption of a specific soluble biomarker for OA is steep but is worth the challenge due to the benefit that it can provide. PMID:26954785

  9. Participatory Medicine: A Home Score for Streptococcal Pharyngitis Enabled by Real-Time Biosurveillance

    PubMed Central

    Fine, Andrew M.; Nizet, Victor; Mandl, Kenneth D.

    2014-01-01

    Background Consensus guidelines recommend that adults at low risk for group A streptococcal (GAS) pharyngitis be neither tested nor treated Objective To help patients decide when to visit a clinician for the evaluation of sore throat. Design Retrospective cohort study. Setting A national chain of retail health clinics. Patients 71 776 patients aged 15 years or older with pharyngitis who visited a clinic from September 2006 to December 2008. Measurements The authors created a score using information from patient-reported clinical variables plus the incidence of local disease and compared it with the Centor score and other traditional scores that require clinician-elicited signs. Results If patients aged 15 years or older with sore throat did not visit a clinician when the new score estimated the likelihood of GAS pharyngitis to be less than 10% instead of having clinicians manage their symptoms following guidelines that use the Centor score, 230 000 visits would be avoided in the United States each year and 8500 patients with GAS pharyngitis who would have received antibiotics would not be treated with them. Limitation Real-time information about the local incidence of GAS pharyngitis, which is necessary to calculate the new score, is not currently available. Conclusion A patient-driven approach to pharyngitis diagnosis that uses this new score could save hundreds of thousands of visits annually by identifying patients at home who are unlikely to require testing or treatment. Primary Funding Source Centers for Disease Control and Prevention and the National Library of Medicine, National Institutes of Health. PMID:24189592

  10. Statistical issues and limitations in personalized medicine research with clinical trials.

    PubMed

    Rubin, Daniel B; van der Laan, Mark J

    2012-07-20

    We discuss using clinical trial data to construct and evaluate rules that use baseline covariates to assign different treatments to different patients. Given such a candidate personalization rule, we first note that its performance can often be evaluated without actually applying the rule to subjects, and a class of estimators is characterized from a statistical efficiency standpoint. We also point out a recently noted reduction of the rule construction problem to a classification task and extend results in this direction. Together these facts suggest a natural form of cross-validation in which a personalized medicine rule can be constructed from clinical trial data using standard classification tools and then evaluated in a replicated trial. Because replication is often required by the FDA to provide evidence of safety and efficacy before pharmaceutical drugs can be marketed, there are abundant data with which to explore the potential benefits of more tailored therapy. We constructed and evaluated personalized medicine rules using simulations based on two active-controlled randomized clinical trials of antibacterial drugs for the treatment of skin and skin structure infections. Unfortunately we present negative results that did not suggest benefit from personalization. We discuss the implications of this finding and why statistical approaches to personalized medicine problems will often face difficult challenges.

  11. A modified classification tree method for personalized medicine decisions

    PubMed Central

    Tsai, Wan-Min; Zhang, Heping; Buta, Eugenia; O’Malley, Stephanie

    2015-01-01

    The tree-based methodology has been widely applied to identify predictors of health outcomes in medical studies. However, the classical tree-based approaches do not pay particular attention to treatment assignment and thus do not consider prediction in the context of treatment received. In recent years, attention has been shifting from average treatment effects to identifying moderators of treatment response, and tree-based approaches to identify subgroups of subjects with enhanced treatment responses are emerging. In this study, we extend and present modifications to one of these approaches (Zhang et al., 2010 [29]) to efficiently identify subgroups of subjects who respond more favorably to one treatment than another based on their baseline characteristics. We extend the algorithm by incorporating an automatic pruning step and propose a measure for assessment of the predictive performance of the constructed tree. We evaluate the proposed method through a simulation study and illustrate the approach using a data set from a clinical trial of treatments for alcohol dependence. This simple and efficient statistical tool can be used for developing algorithms for clinical decision making and personalized treatment for patients based on their characteristics. PMID:26770292

  12. Personalizing medicine for metastatic colorectal cancer: Current developments

    PubMed Central

    Marques, Andrea Marin; Turner, Alice; de Mello, Ramon Andrade

    2014-01-01

    Metastatic colorectal cancer (mCRC) is still one of the tumor types with the highest incidence and mortality. In 2012, colorectal cancer was the second most prevalence cancer among males (9%) and the third among females (8%). In this disease, early diagnosis is important to improve treatment outcomes. However, at the time of diagnosis, about one quarter of patients already have metastases, and overall survival of these patients at 5-years survival is very low. Because of these poor statistics, the development of new drugs against specific targets, including the pathway of angiogenesis, has witnessed a remarkable increase. So, targets therapies through epidermal growth factor and its receptor and also KRAS pathways modulation acquired a main role whether in association with standard chemotherapy and radiotherapy. With the current knowledge in the field of molecular biology, including genetic mutations and polymorphisms, we know better why patients respond so differently to the same treatments. So, in the future we can develop increasingly personalized treatments to the patient and not the disease. This review aims to summarize some molecular pathways and their relation to tumor growth, as well as novel targeted developing drugs and recently approved for mCRC. PMID:25132758

  13. Genetics and Vaccines in the Era of Personalized Medicine

    PubMed Central

    Castiblanco, John; Anaya, Juan-Manuel

    2015-01-01

    Vaccines represent the most successful and sustainable tactic to prevent and counteract infection. A vaccine generally improves immunity to a particular disease upon administration by inducing specific protective and efficient immune responses in all of the receiving population. The main known factors influencing the observed heterogeneity for immune re-sponses induced by vaccines are gender, age, co-morbidity, immune system, and genetic background. This review is mainly focused on the genetic status effect to vaccine immune responses and how this could contribute to the development of novel vaccine candidates that could be better directed and predicted relative to the genetic history of an individual and/or population. The text offers a brief history of vaccinology as a field, a description of the genetic status of the most relevant and studied genes and their functionality and correlation with exposure to specific vaccines; followed by an inside look into autoimmunity as a concern when designing vaccines as well as perspectives and conclusions looking towards an era of personalized and predictive vaccinology instead of a one size fits all approach. PMID:25937813

  14. Commercial Opportunities and Ethical Pitfalls in Personalized Medicine: A Myriad of Reasons to Revisit the Myriad Genetics Saga

    PubMed Central

    So, Derek; Joly, Yann

    2013-01-01

    In 1996, the US-based biotechnology company Myriad Genetics began offering genetic diagnostic tests for mutations in the genes BRCA1 and BRCA2, which are linked to hereditary breast and ovarian cancer. Since that time, Myriad has been a forerunner in the field of personalized medicine through the use of effective commercialization strategies which have been emulated by other commercial biotechnology companies. Myriad’s strategies include patent acquisition and active enforcement, direct-to-consumer advertising, diversification, and trade secrets. These business models have raised substantial ethical controversy and criticism, often related to the company’s focus on market dominance and the potential conflict between private sector profitability and the promotion of public health. However, these strategies have enabled Myriad to survive the economic challenges that have affected the biotechnology sector and to become financially successful in the field of personalized medicine. Our critical assessment of the legal, economic and ethical aspects of Myriad’s practices over this period allows the identification of the company’s more effective business models. It also discusses of the consequences of implementing economically viable models without first carrying out broader reflection on the socio-cultural, ethical and political contexts in which they would apply. PMID:23885284

  15. Commercial Opportunities and Ethical Pitfalls in Personalized Medicine: A Myriad of Reasons to Revisit the Myriad Genetics Saga.

    PubMed

    So, Derek; Joly, Yann

    2013-06-01

    In 1996, the US-based biotechnology company Myriad Genetics began offering genetic diagnostic tests for mutations in the genes BRCA1 and BRCA2, which are linked to hereditary breast and ovarian cancer. Since that time, Myriad has been a forerunner in the field of personalized medicine through the use of effective commercialization strategies which have been emulated by other commercial biotechnology companies. Myriad's strategies include patent acquisition and active enforcement, direct-to-consumer advertising, diversification, and trade secrets. These business models have raised substantial ethical controversy and criticism, often related to the company's focus on market dominance and the potential conflict between private sector profitability and the promotion of public health. However, these strategies have enabled Myriad to survive the economic challenges that have affected the biotechnology sector and to become financially successful in the field of personalized medicine. Our critical assessment of the legal, economic and ethical aspects of Myriad's practices over this period allows the identification of the company's more effective business models. It also discusses of the consequences of implementing economically viable models without first carrying out broader reflection on the socio-cultural, ethical and political contexts in which they would apply.

  16. Nanodiamonds: The intersection of nanotechnology, drug development, and personalized medicine

    PubMed Central

    Ho, Dean; Wang, Chung-Huei Katherine; Chow, Edward Kai-Hua

    2015-01-01

    The implementation of nanomedicine in cellular, preclinical, and clinical studies has led to exciting advances ranging from fundamental to translational, particularly in the field of cancer. Many of the current barriers in cancer treatment are being successfully addressed using nanotechnology-modified compounds. These barriers include drug resistance leading to suboptimal intratumoral retention, poor circulation times resulting in decreased efficacy, and off-target toxicity, among others. The first clinical nanomedicine advances to overcome these issues were based on monotherapy, where small-molecule and nucleic acid delivery demonstrated substantial improvements over unmodified drug administration. Recent preclinical studies have shown that combination nanotherapies, composed of either multiple classes of nanomaterials or a single nanoplatform functionalized with several therapeutic agents, can image and treat tumors with improved efficacy over single-compound delivery. Among the many promising nanomaterials that are being developed, nanodiamonds have received increasing attention because of the unique chemical-mechanical properties on their faceted surfaces. More recently, nanodiamond-based drug delivery has been included in the rational and systematic design of optimal therapeutic combinations using an implicitly de-risked drug development platform technology, termed Phenotypic Personalized Medicine–Drug Development (PPM-DD). The application of PPM-DD to rapidly identify globally optimized drug combinations successfully addressed a pervasive challenge confronting all aspects of drug development, both nano and non-nano. This review will examine various nanomaterials and the use of PPM-DD to optimize the efficacy and safety of current and future cancer treatment. How this platform can accelerate combinatorial nanomedicine and the broader pharmaceutical industry toward unprecedented clinical impact will also be discussed. PMID:26601235

  17. Personalized Medicine applied to Forensic Sciences: new advances and perspectives for a tailored forensic approach.

    PubMed

    Santurro, Alessandro; Vullo, Anna Maria; Borro, Marina; Gentile, Giovanna; Russa, Raffaele La; Simmaco, Maurizio; Frati, Paola; Fineschi, Vittorio

    2017-02-07

    Personalized medicine (PM), included in P5 medicine (Personalized, Predictive, Preventive, Participative and Precision medicine) is an innovative approach to the patient, emerging from the need to tailor and to fit the profile of each individual. PM promises to dramatically impact also on forensic sciences and justice system in ways we are only beginning to understand. The application of omics (genomic, transcriptomics, epigenetics/imprintomics, proteomic and metabolomics) is ever more fundamental in the so called "molecular autopsy". Emerging fields of interest in forensic pathology are represented by diagnosis and detection of predisposing conditions to fatal thromboembolic and hypertensive events, determination of genetic variants related to sudden death, such as congenital long QT syndromes, demonstration of lesions vitality, identification of biological matrices and species diagnosis of a forensic trace on crime scenes without destruction of the DNA. The aim of this paper is to describe the state-of-art in the application of personalized medicine in forensic sciences, to understand the possibilities of integration in routine investigation of these procedures with classical post-mortem studies and to underline the importance of these new updates in medical examiners' armamentarium in determining cause of death or contributing factors to death.

  18. Personalized medicine and access to health care: potential for inequitable access?

    PubMed

    McClellan, Kelly A; Avard, Denise; Simard, Jacques; Knoppers, Bartha M

    2013-02-01

    Personalized medicine promises that an individual's genetic information will be increasingly used to prioritize access to health care. Use of genetic information to inform medical decision making, however, raises questions as to whether such use could be inequitable. Using breast cancer genetic risk prediction models as an example, on the surface clinical use of genetic information is consistent with the tools provided by evidence-based medicine, representing a means to equitably distribute limited health-care resources. However, at present, given limitations inherent to the tools themselves, and the mechanisms surrounding their implementation, it becomes clear that reliance on an individual's genetic information as part of medical decision making could serve as a vehicle through which disparities are perpetuated under public and private health-care delivery models. The potential for inequities arising from using genetic information to determine access to health care has been rarely discussed. Yet, it raises legal and ethical questions distinct from those raised surrounding genetic discrimination in employment or access to private insurance. Given the increasing role personalized medicine is forecast to play in the provision of health care, addressing a broader view of what constitutes genetic discrimination, one that occurs along a continuum and includes inequitable access, will be needed during the implementation of new applications based on individual genetic profiles. Only by anticipating and addressing the potential for inequitable access to health care occurring from using genetic information will we move closer to realizing the goal of personalized medicine: to improve the health of individuals.

  19. Participatory medicine and patient empowerment towards personalized healthcare in multiple sclerosis.

    PubMed

    Lejbkowicz, Izabella; Caspi, Opher; Miller, Ariel

    2012-03-01

    The current understanding that the key for successful healthcare is an integrated approach, involving predictive, preventive, personalized and participatory medicine, is leading major changes. These are: a shift from medical decisions based on 'trial and error' to informed therapeutics based on diagnostics (theranostics); a shift from a 'disease-centered' to a 'patient-centered' approach; and a shift from a 'reactive' to 'proactive' medical approach. It is essential that not only the physician, but also the patient, becomes proactive. Therefore, beyond the integration of genomic medicine and predictive biomarkers into practice, patient empowerment and participatory medicine are gaining increasing attention. This requires, besides appropriate sharing of information between patients and healthcare providers, new insights in patient involvement, such as patient-reported outcomes, both at the clinical trial stage of drug development and during post-marketing follow-up assessments. Patient empowerment and participatory medicine, as part of predictive, preventive, personalized and participatory medicine, are especially crucial in paving the way towards optimized healthcare in complex and chronic neurological diseases, such as multiple sclerosis.

  20. Personalized- and one- medicine: bioinformatics foundation in health and its economic feasibility.

    PubMed

    Stefano, George B; Kream, Richard M

    2015-01-15

    Personalized medicine's foundation rests on the use of molecular technologies, which are being used to identify genetic mutations, polymorphisms, and variants that can be associated with an individual's genetic make up, revealing risk factors and predictive data. Needless to say this same analysis can be performed on various types of cancers, including samples stored for many years under the right conditions. For the most part, these technologies employ microarray and RNA-Seq methodologies, which examine large numbers of gene expressions at a time, providing clustering and patterns of this expression. The methodologies and their evaluative outcomes further demonstrate that more than a single gene is involved with various phenomena. However, given the mass of data emerging from this analysis, and commonalities they reveal between various phenomena/disorders, achieving 100% certainty may not be that easy. Another outcome from this massive store of molecular data is the concept of one medicine. This field has been developed by researchers in a variety of disciplines (e.g., medical and veterinary science) that advocate for greater integration of animal and human health. One medicine takes advantage of the fact that molecular commonalities in major biochemical pathways occur because of evolutionary conservation, which is dependent on stereospecificity. In this regard, the foci of personalized medicine and one medicine are quite broad and require trained professionals, as well as a lowering of cost in order to be better integrated into mainstream medical practice.

  1. Nanomedicine-Based Neuroprotective Strategies in Patient Specific-iPSC and Personalized Medicine

    PubMed Central

    Jang, Shih-Fan; Liu, Wei-Hsiu; Song, Wen-Shin; Chiang, Kuan-Lin; Ma, Hsin-I; Kao, Chung-Lan; Chen, Ming-Teh

    2014-01-01

    In recent decades, nanotechnology has attracted major interests in view of drug delivery systems and therapies against diseases, such as cancer, neurodegenerative diseases, and many others. Nanotechnology provides the opportunity for nanoscale particles or molecules (so called “Nanomedicine”) to be delivered to the targeted sites, thereby, reducing toxicity (or side effects) and improving drug bioavailability. Nowadays, a great deal of nano-structured particles/vehicles has been discovered, including polymeric nanoparticles, lipid-based nanoparticles, and mesoporous silica nanoparticles. Nanomedical utilizations have already been well developed in many different aspects, including disease treatment, diagnostic, medical devices designing, and visualization (i.e., cell trafficking). However, while quite a few successful progressions on chemotherapy using nanotechnology have been developed, the implementations of nanoparticles on stem cell research are still sparsely populated. Stem cell applications and therapies are being considered to offer an outstanding potential in the treatment for numbers of maladies. Human induced pluripotent stem cells (iPSCs) are adult cells that have been genetically reprogrammed to an embryonic stem cell-like state. Although the exact mechanisms underlying are still unclear, iPSCs are already being considered as useful tools for drug development/screening and modeling of diseases. Recently, personalized medicines have drawn great attentions in biological and pharmaceutical studies. Generally speaking, personalized medicine is a therapeutic model that offers a customized healthcare/cure being tailored to a specific patient based on his own genetic information. Consequently, the combination of nanomedicine and iPSCs could actually be the potent arms for remedies in transplantation medicine and personalized medicine. This review will focus on current use of nanoparticles on therapeutical applications, nanomedicine-based neuroprotective

  2. Nanomedicine-based neuroprotective strategies in patient specific-iPSC and personalized medicine.

    PubMed

    Jang, Shih-Fan; Liu, Wei-Hsiu; Song, Wen-Shin; Chiang, Kuan-Lin; Ma, Hsin-I; Kao, Chung-Lan; Chen, Ming-Teh

    2014-03-04

    In recent decades, nanotechnology has attracted major interests in view of drug delivery systems and therapies against diseases, such as cancer, neurodegenerative diseases, and many others. Nanotechnology provides the opportunity for nanoscale particles or molecules (so called "Nanomedicine") to be delivered to the targeted sites, thereby, reducing toxicity (or side effects) and improving drug bioavailability. Nowadays, a great deal of nano-structured particles/vehicles has been discovered, including polymeric nanoparticles, lipid-based nanoparticles, and mesoporous silica nanoparticles. Nanomedical utilizations have already been well developed in many different aspects, including disease treatment, diagnostic, medical devices designing, and visualization (i.e., cell trafficking). However, while quite a few successful progressions on chemotherapy using nanotechnology have been developed, the implementations of nanoparticles on stem cell research are still sparsely populated. Stem cell applications and therapies are being considered to offer an outstanding potential in the treatment for numbers of maladies. Human induced pluripotent stem cells (iPSCs) are adult cells that have been genetically reprogrammed to an embryonic stem cell-like state. Although the exact mechanisms underlying are still unclear, iPSCs are already being considered as useful tools for drug development/screening and modeling of diseases. Recently, personalized medicines have drawn great attentions in biological and pharmaceutical studies. Generally speaking, personalized medicine is a therapeutic model that offers a customized healthcare/cure being tailored to a specific patient based on his own genetic information. Consequently, the combination of nanomedicine and iPSCs could actually be the potent arms for remedies in transplantation medicine and personalized medicine. This review will focus on current use of nanoparticles on therapeutical applications, nanomedicine-based neuroprotective

  3. Pre-graduate and post-graduate education in personalized medicine in the Czech Republic: statistics, analysis and recommendations.

    PubMed

    Polivka, Jiri; Polivka, Jiri; Karlikova, Marie; Topolcan, Ondrej

    2014-01-01

    The main goal of personalized medicine is the individualized approach to the patient's treatment. It could be achieved only by the integration of the complexity of novel findings in diverse "omics" disciplines, new methods of medical imaging, as well as implementation of reliable biomarkers into the medical care. The implementation of personalized medicine into clinical practice is dependent on the adaptation of pre-graduate and post-graduate medical education to these principles. The situation in the education of personalized medicine in the Czech Republic is analyzed together with novel educational tools that are currently established in our country. The EPMA representatives in the Czech Republic in cooperation with the working group of professionals at the Faculty of Medicine in Pilsen, Charles University in Prague have implemented the survey of personalized medicine awareness among students of Faculty of Medicine in Pilsen-the "Personalized Medicine Questionnaire". The results showed lacking knowledge of personalized medicine principles and students' will of education in this domain. Therefore, several educational activities addressed particularly to medical students and young physicians were realized at our facility with very positive evaluation. These educational activities (conferences, workshops, seminars, e-learning and special courses in personalized medicine (PM)) will be a part of pre-graduate and post-graduate medical education, will be extended to other medical faculties in our country. The "Summer School of Personalized Medicine in Plzen 2015" will be organized at the Faculty of Medicine and Faculty Hospital in Pilsen as the first event on this topic in the Czech Republic.

  4. [PHARMACEUTICAL INDUSTRY AND PERSONALIZED MEDICINE: A PARADIGM SHIFT IN THE DEVELOPMENT OF NEW DRUGS].

    PubMed

    Scheen, A J

    2015-01-01

    The cost of pharmacotherapy is increasing in the health care budget. The pharmaceutical industry is facing the exhaustion of medications that are largely prescribed and have a high profitability (blockbusters). Because of patient heterogeneity, there is a great interindividual variability of the responses to drug therapy. Thus, it is essential to better detect potential to avoid waste of resources resulting from the prescription of expensive drugs to poor responders. The development of personalized medicine, or precision medicine, certainly offers opportunities to the pharmaceutical industry, but also exposes it to new big challenges.

  5. Personalized Cardiovascular Medicine Today: A Food and Drug Administration/Center for Drug Evaluation and Research Perspective.

    PubMed

    Blaus, Alison; Madabushi, Rajanikanth; Pacanowski, Michael; Rose, Martin; Schuck, Robert N; Stockbridge, Norman; Temple, Robert; Unger, Ellis F

    2015-10-13

    Over the past decade, personalized medicine has received considerable attention from researchers, drug developers, and regulatory agencies. Personalized medicine includes identifying patients most likely to benefit and those most likely to experience adverse reactions in response to a drug, and tailoring therapy based on pharmacokinetics or pharmacodynamic response, as well. Perhaps most exciting is finding ways to identify likely responders through genetic, proteomic, or other tests, so that only likely responders will be treated. However, less precise methods such as identifying historical, demographic, or other indicators of increased or reduced responsiveness are also important aspects of personalized medicine. The cardiovascular field has not used many genetic or proteomic markers, but has regularly used prognostic variables to identify likely responders. The development of biomarker-based approaches to personalized medicine in cardiovascular disease has been challenging, in part, because most cardiovascular therapies treat acquired syndromes, such as acute coronary syndrome and heart failure, which develop over many decades and represent the end result of several pathophysiological mechanisms. More precise disease classification and greater understanding of individual variations in disease pathology could drive the development of targeted therapeutics. Success in designing clinical trials for personalized medicine will require the selection of patient populations with attributes that can be targeted or that predict outcome, and the use of appropriate enrichment strategies once such attributes are identified. Here, we describe examples of personalized medicine in cardiovascular disease, discuss its impact on clinical trial design, and provide insight into the future of personalized cardiovascular medicine from a regulatory perspective.

  6. Characteristics of personal health records: findings of the Medical Library Association/National Library of Medicine Joint Electronic Personal Health Record Task Force

    PubMed Central

    Shipman, Jean P; Plaut, Daphne A; Selden, Catherine R

    2010-01-01

    Objectives: The Medical Library Association (MLA)/National Library of Medicine (NLM) Joint Electronic Personal Health Record Task Force examined the current state of personal health records (PHRs). Methods: A working definition of PHRs was formulated, and a database was built with fields for specified PHR characteristics. PHRs were identified and listed. Each task force member was assigned a portion of the list for data gathering. Findings were recorded in the database. Results: Of the 117 PHRs identified, 91 were viable. Almost half were standalone products. A number used national standards for nomenclature and/or record structure. Less than half were mobile device enabled. Some were publicly available, and others were offered only to enrollees of particular health plans or employees at particular institutions. A few were targeted to special health conditions. Conclusions: The PHR field is very dynamic. While most PHR products have some common elements, their features can vary. PHRs can link their users with librarians and information resources. MLA and NLM have taken an active role in making this connection and in encouraging librarians to assume this assistance role with PHRs. PMID:20648259

  7. [OMICS AND BIG DATA, MAJOR ADVANCES TOWARDS PERSONALIZED MEDICINE OF THE FUTURE?].

    PubMed

    Scheen, A J

    2015-01-01

    The increasing interest for personalized medicine evolves together with two major technological advances. First, the new-generation, rapid and less expensive, DNA sequencing method, combined with remarkable progresses in molecular biology leading to the post-genomic era (transcriptomics, proteomics, metabolomics). Second, the refinement of computing tools (IT), which allows the immediate analysis of a huge amount of data (especially, those resulting from the omics approaches) and, thus, creates a new universe for medical research, that of analyzed by computerized modelling. This article for scientific communication and popularization briefly describes the main advances in these two fields of interest. These technological progresses are combined with those occurring in communication, which makes possible the development of artificial intelligence. These major advances will most probably represent the grounds of the future personalized medicine.

  8. Personalized medicine in hematology — A landmark from bench to bed

    PubMed Central

    Badalian-Very, Gayane

    2014-01-01

    Personalized medicine is the cornerstone of medical practice. It tailors treatments for specific conditions of an affected individual. The borders of personalized medicine are defined by limitations in technology and our understanding of biology, physiology and pathology of various conditions. Current advances in technology have provided physicians with the tools to investigate the molecular makeup of the disease. Translating these molecular make-ups to actionable targets has led to the development of small molecular inhibitors. Also, detailed understanding of genetic makeup has allowed us to develop prognostic markers, better known as companion diagnostics. Current attempts in the development of drug delivery systems offer the opportunity of delivering specific inhibitors to affected cells in an attempt to reduce the unwanted side effects of drugs. PMID:25349676

  9. Genetic and molecular alterations in pancreatic cancer: Implications for personalized medicine

    PubMed Central

    Fang, Yantian; Yao, Qizhi; Chen, Zongyou; Xiang, Jianbin; William, Fisher E.; Gibbs, Richard A.; Chen, Changyi

    2013-01-01

    Recent advances in human genomics and biotechnologies have profound impacts on medical research and clinical practice. Individual genomic information, including DNA sequences and gene expression profiles, can be used for prediction, prevention, diagnosis, and treatment for many complex diseases. Personalized medicine attempts to tailor medical care to individual patients by incorporating their genomic information. In a case of pancreatic cancer, the fourth leading cause of cancer death in the United States, alteration in many genes as well as molecular profiles in blood, pancreas tissue, and pancreas juice has recently been discovered to be closely associated with tumorigenesis or prognosis of the cancer. This review aims to summarize recent advances of important genes, proteins, and microRNAs that play a critical role in the pathogenesis of pancreatic cancer, and to provide implications for personalized medicine in pancreatic cancer. PMID:24172537

  10. Consumer familiarity, perspectives and expected value of personalized medicine with a focus on applications in oncology

    PubMed Central

    Garfeld, Susan; Douglas, Michael P; MacDonald, Karen V; Marshall, Deborah A; Phillips, Kathryn A

    2015-01-01

    Aims Knowledge of consumer perspectives of personalized medicine (PM) is limited. Our study assessed consumer perspectives of PM, with a focus on oncology care, to inform industry, clinician and payer stakeholders' programs and policy. Materials & Methods A nationally representative survey of 602 US consumers' ≥30 years old explored familiarity, perspectives and expected value of PM. Results Most (73%) respondents have not heard of ‘personalized medicine,’ though after understanding the term most (95%) expect PM to have a positive beneft. Consumer's willingness to pay is associated with products' impact on survival, rather than predicting disease risk. If testing indicates consumers are not candidates for oncology therapies, most (84%) would seek a second opinion or want therapy anyway. Conclusions Understanding heterogeneity in consumer perspectives of PM can inform program and policy development. PMID:25620993

  11. Top Three Pharmacogenomics and Personalized Medicine Applications at the Nexus of Renal Pathophysiology and Cardiovascular Medicine

    PubMed Central

    Bochud, Murielle; Burnier, Michel; Guessous, Idris

    2011-01-01

    Pharmacogenomics is a field with origins in the study of monogenic variations in drug metabolism in the 1950s. Perhaps because of these historical underpinnings, there has been an intensive investigation of 'hepatic pharmacogenes' such as CYP450s and liver drug metabolism using pharmacogenomics approaches over the past five decades. Surprisingly, kidney pathophysiology, attendant diseases and treatment outcomes have been vastly under-studied and under-theorized despite their central importance in maintenance of health, susceptibility to disease and rational personalized therapeutics. Indeed, chronic kidney disease (CKD) represents an increasing public health burden worldwide, both in developed and developing countries. Patients with CKD suffer from high cardiovascular morbidity and mortality, which is mainly attributable to cardiovascular events before reaching end-stage renal disease. In this paper, we focus our analyses on renal function before end-stage renal disease, as seen through the lens of pharmacogenomics and human genomic variation. We herein synthesize the recent evidence linking selected Very Important Pharmacogenes (VIP) to renal function, blood pressure and salt-sensitivity in humans, and ways in which these insights might inform rational personalized therapeutics. Notably, we highlight and present the rationale for three applications that we consider as important and actionable therapeutic and preventive focus areas in renal pharmacogenomics: 1) ACE inhibitors, as a confirmed application, 2) VDR agonists, as a promising application, and 3) moderate dietary salt intake, as a suggested novel application. Additionally, we emphasize the putative contributions of gene-environment interactions, discuss the implications of these findings to treat and prevent hypertension and CKD. Finally, we conclude with a strategic agenda and vision required to accelerate advances in this under-studied field of renal pharmacogenomics with vast significance for global

  12. From Metabonomics to Pharmacometabonomics: The Role of Metabolic Profiling in Personalized Medicine

    PubMed Central

    Everett, Jeremy R.

    2016-01-01

    Variable patient responses to drugs are a key issue for medicine and for drug discovery and development. Personalized medicine, that is the selection of medicines for subgroups of patients so as to maximize drug efficacy and minimize toxicity, is a key goal of twenty-first century healthcare. Currently, most personalized medicine paradigms rely on clinical judgment based on the patient's history, and on the analysis of the patients' genome to predict drug effects i.e., pharmacogenomics. However, variability in patient responses to drugs is dependent upon many environmental factors to which human genomics is essentially blind. A new paradigm for predicting drug responses based on individual pre-dose metabolite profiles has emerged in the past decade: pharmacometabonomics, which is defined as “the prediction of the outcome (for example, efficacy or toxicity) of a drug or xenobiotic intervention in an individual based on a mathematical model of pre-intervention metabolite signatures.” The new pharmacometabonomics paradigm is complementary to pharmacogenomics but has the advantage of being sensitive to environmental as well as genomic factors. This review will chart the discovery and development of pharmacometabonomics, and provide examples of its current utility and possible future developments. PMID:27660611

  13. Personalized Medicine in the U.S. and Germany: Awareness, Acceptance, Use and Preconditions for the Wide Implementation into the Medical Standard

    PubMed Central

    Kichko, Kateryna; Marschall, Paul; Flessa, Steffen

    2016-01-01

    The aim of our research was to collect comprehensive data about the public and physician awareness, acceptance and use of Personalized Medicine (PM), as well as their opinions on PM reimbursement and genetic privacy protection in the U.S. and Germany. In order to give a better overview, we compared our survey results with the results from other studies and discussed Personalized Medicine preconditions for its wide implementation into the medical standard. For the data collection, using the same methodology, we performed several surveys in Pennsylvania (U.S.) and Bavaria (Germany). Physicians were contacted via letter, while public representatives in person. Survey results, analyzed by means of descriptive and non-parametric statistic methods, have shown that awareness, acceptance, use and opinions on PM aspects in Pennsylvania and Bavaria were not significantly different. In both states there were strong concerns about genetic privacy protection and no support of one genetic database. The costs for Personalized Medicine were expected to be covered by health insurances and governmental funds. Summarizing, we came to the conclusion that for PM wide implementation there will be need to adjust the healthcare reimbursement system, as well as adopt new laws which protect against genetic misuse and simultaneously enable voluntary data provision. PMID:27144585

  14. Personalized Medicine in the U.S. and Germany: Awareness, Acceptance, Use and Preconditions for the Wide Implementation into the Medical Standard.

    PubMed

    Kichko, Kateryna; Marschall, Paul; Flessa, Steffen

    2016-05-02

    The aim of our research was to collect comprehensive data about the public and physician awareness, acceptance and use of Personalized Medicine (PM), as well as their opinions on PM reimbursement and genetic privacy protection in the U.S. and Germany. In order to give a better overview, we compared our survey results with the results from other studies and discussed Personalized Medicine preconditions for its wide implementation into the medical standard. For the data collection, using the same methodology, we performed several surveys in Pennsylvania (U.S.) and Bavaria (Germany). Physicians were contacted via letter, while public representatives in person. Survey results, analyzed by means of descriptive and non-parametric statistic methods, have shown that awareness, acceptance, use and opinions on PM aspects in Pennsylvania and Bavaria were not significantly different. In both states there were strong concerns about genetic privacy protection and no support of one genetic database. The costs for Personalized Medicine were expected to be covered by health insurances and governmental funds. Summarizing, we came to the conclusion that for PM wide implementation there will be need to adjust the healthcare reimbursement system, as well as adopt new laws which protect against genetic misuse and simultaneously enable voluntary data provision.

  15. Tissue Banking, Bioinformatics, and Electronic Medical Records: The Front-End Requirements for Personalized Medicine

    PubMed Central

    Suh, K. Stephen; Sarojini, Sreeja; Youssif, Maher; Nalley, Kip; Milinovikj, Natasha; Elloumi, Fathi; Russell, Steven; Pecora, Andrew; Schecter, Elyssa; Goy, Andre

    2013-01-01

    Personalized medicine promises patient-tailored treatments that enhance patient care and decrease overall treatment costs by focusing on genetics and “-omics” data obtained from patient biospecimens and records to guide therapy choices that generate good clinical outcomes. The approach relies on diagnostic and prognostic use of novel biomarkers discovered through combinations of tissue banking, bioinformatics, and electronic medical records (EMRs). The analytical power of bioinformatic platforms combined with patient clinical data from EMRs can reveal potential biomarkers and clinical phenotypes that allow researchers to develop experimental strategies using selected patient biospecimens stored in tissue banks. For cancer, high-quality biospecimens collected at diagnosis, first relapse, and various treatment stages provide crucial resources for study designs. To enlarge biospecimen collections, patient education regarding the value of specimen donation is vital. One approach for increasing consent is to offer publically available illustrations and game-like engagements demonstrating how wider sample availability facilitates development of novel therapies. The critical value of tissue bank samples, bioinformatics, and EMR in the early stages of the biomarker discovery process for personalized medicine is often overlooked. The data obtained also require cross-disciplinary collaborations to translate experimental results into clinical practice and diagnostic and prognostic use in personalized medicine. PMID:23818899

  16. Personality profiles of male and female positive role models in medicine.

    PubMed

    Magee, M; Hojat, M

    1998-04-01

    This study was designed to investigate the personality profile of positive role models in medicine. Participants were a national sample of 188 physicians (164 men, 24 women) who had been nominated by the chief executive officers of their institutions as positive role models and who completed the Revised NEO Personality Inventory. Compared to the general population, these 188 male and female positive role models in medicine scored higher on Conscientious factor, and on Achievement Striving, Activity, Competence, Dutifulness, Trust, Assertiveness, and Altruism facets, but they scored lower on the Vulnerability facet than the general population. In addition, the male role models scored significantly higher than men in the general population on the Agreeableness factor, and the female role models obtained significantly higher scores than the population norms on Extraversion and Openness factors, and on Feelings, Ideas, Positive Emotions, Values, Warmth, Aesthetics, and Fantasy facets. The female role models scored far below their sex-related norms on Neuroticism factor and on Angry Hostility facet. Comparisons between the male and female role models showed that the female role models scored higher on the Openness factor, and on the Feelings, Positive Emotions, Aesthetics, and Fantasy facets of personality. Implications in medical education and in explaining, assessing, and improving the qualities that contribute to professional success and in promoting the concept of "positive medicine" are discussed.

  17. Smart fabrics and interactive textile enabling wearable personal applications: R&D state of the art and future challenges.

    PubMed

    Lymberis, A; Paradiso, R

    2008-01-01

    Smart fabrics and interactive textiles (SFIT) are fibrous structures that are capable of sensing, actuating, generating/storing power and/or communicating. Research and development towards wearable textile-based personal systems allowing e.g. health monitoring, protection & safety, and healthy lifestyle gained strong interest during the last 10 years. Under the Information and Communication Programme of the European Commission, a cluster of R&D projects dealing with smart fabrics and interactive textile wearable systems regroup activities along two different and complementary approaches i.e. 'application pull' and 'technology push'. This includes projects aiming at personal health management through integration, validation, and use of smart clothing and other networked mobile devices as well as projects targeting the full integration of sensors/actuators, energy sources, processing and communication within the clothes to enable personal applications such as protection/safety, emergency and healthcare. The integration part of the technologies into a real SFIT product is at present stage on the threshold of prototyping and testing. Several issues, technical as well user-centred, societal and business, remain to be solved. The paper presents on going major R&D activities, identifies gaps and discuss key challenges for the future.

  18. Diabetes in homeless persons: barriers and enablers to health as perceived by patients, medical, and social service providers.

    PubMed

    Elder, Nancy C; Tubb, Matthew R

    2014-01-01

    The ways homelessness and diabetes affect each other is not well known. The authors sought to understand barriers and enablers to health for homeless people with diabetes as perceived by homeless persons and providers. The authors performed semistructured interviews with a sample of participants (seven homeless persons, six social service providers, and five medical providers) in an urban Midwest community. Data analysis was performed with the qualitative editing method. Participants described external factors (chaotic lifestyle, diet/food availability, access to care, and medications) and internal factors (competing demands, substance abuse, stress) that directly affect health. Social service providers were seen as peripheral to diabetes care, although all saw their primary functions as valuable. These factors and relationships are appropriately modeled in a complex adaptive chronic care model, where the framework is bottom up and stresses adaptability, self-organization, and empowerment. Adapting the care of homeless persons with diabetes to include involvement of patients and medical and social service providers must be emergent and responsive to changing needs.

  19. A Perspective on Implementing a Quantitative Systems Pharmacology Platform for Drug Discovery and the Advancement of Personalized Medicine

    PubMed Central

    Stern, Andrew M.; Schurdak, Mark E.; Bahar, Ivet; Berg, Jeremy M.; Taylor, D. Lansing

    2016-01-01

    Drug candidates exhibiting well-defined pharmacokinetic and pharmacodynamic profiles that are otherwise safe often fail to demonstrate proof-of-concept in phase II and III trials. Innovation in drug discovery and development has been identified as a critical need for improving the efficiency of drug discovery, especially through collaborations between academia, government agencies, and industry. To address the innovation challenge, we describe a comprehensive, unbiased, integrated, and iterative quantitative systems pharmacology (QSP)–driven drug discovery and development strategy and platform that we have implemented at the University of Pittsburgh Drug Discovery Institute. Intrinsic to QSP is its integrated use of multiscale experimental and computational methods to identify mechanisms of disease progression and to test predicted therapeutic strategies likely to achieve clinical validation for appropriate subpopulations of patients. The QSP platform can address biological heterogeneity and anticipate the evolution of resistance mechanisms, which are major challenges for drug development. The implementation of this platform is dedicated to gaining an understanding of mechanism(s) of disease progression to enable the identification of novel therapeutic strategies as well as repurposing drugs. The QSP platform will help promote the paradigm shift from reactive population-based medicine to proactive personalized medicine by focusing on the patient as the starting and the end point. PMID:26962875

  20. Extreme respiratory sinus arrhythmia enables overwintering black bear survival--physiological insights and applications to human medicine.

    PubMed

    Laske, Timothy G; Harlow, Henry J; Garshelis, David L; Iaizzo, Paul A

    2010-10-01

    American black bears survive winter months without food and water while in a mildly hypothermic, hypometabolic, and inactive state, yet they appear to be able to return to near-normal systemic function within minutes of arousal. This study's goal was to characterize the cardiovascular performance of overwintering black bears and elicit the underlying mechanisms enabling survival. Mid-winter cardiac electrophysiology was assessed in four wild black bears using implanted data recorders. Paired data from early and late winter were collected from 37 wild bears, which were anesthetized and temporarily removed from their dens to record cardiac electrophysiological parameters (12-lead electrocardiograms) and cardiac dimensional changes (echocardiography). Left ventricular thickness, primary cardiac electrophysiological parameters, and cardiovascular response to threats ("fight or flight" response) were preserved throughout winter. Dramatic respiratory sinus arrhythmias were recorded (cardiac cycle length variations up to 865%) with long sinus pauses between breaths (up to 13 s). The accelerated heart rate during breathing efficiently transports oxygen, with the heart "resting" between breaths to minimize energy usage. This adaptive cardiac physiology may have broad implications for human medicine.

  1. Personalized Medicine Across Disciplines and without Borders. Vural Özdemir speaks to Hannah Wilson, Commissioning Editor.

    PubMed

    Özdemir, Vural

    Vural Özdemir began his career as a medical doctor in Turkey in 1990, as a scientist at the Faculty of Medicine, University of Toronto (ON, Canada), where he obtained his MSc and PhD in clinical pharmacology (1998), and subsequently completed a 4-year postdoctoral fellowship in personalized medicine with the late Werner Kalow, a founding pioneer in the field of pharmacogenetics. Özdemir contributed to the conception and development of the repeated drug administration (RDA) method as a novel way of measuring pharmacological heritability, pharmacogenetics of psychiatric drugs and studying the clinical role of CYP2D6 genetic variations for endogenous neurotransmitter metabolism in the human brain. Recognizing that scientific knowledge is a product of both technology and social systems that often remain unaccounted for (e.g., human values, distribution of power and human agency, immigration, racial disparities, socioeconomic class and equity), Özdemir discovered the literature in the field of science and technology studies, a rich scholarly enquiry that asks fundamental questions and challenges assumptions regarding the backstage of technoscience, situates technology within its political context and makes hitherto unseen connections that frame science in ways that enable robust, responsible and sustainable innovation. From 2008 to 2012, Özdemir was awarded a mid-career "science and society" fellowship in order to retool as independent faculty and senior scientist in science and technology studies (STS), conducting research on research and examining his own trade - pharmacogenetics science - as an insider on the outside. Recently, Özdemir was awarded senior career support from the Scientific and Tehnological Research Council of Turkey, is an Associate Professor of both Communications and Human Genetics at the Faculty of Communications and serves as an advisor to the Rector for International Technology and Innovation Policy, Gaziantep University in Turkey. He is

  2. Traditional Chinese medicine and new concepts of predictive, preventive and personalized medicine in diagnosis and treatment of suboptimal health

    PubMed Central

    2014-01-01

    Background The premise of disease-related phenotypes is the definition of the counterpart normality in medical sciences. Contrary to clinical practices that can be carefully planned according to clinical needs, heterogeneity and uncontrollability is the essence of humans in carrying out health studies. Full characterization of consistent phenotypes that define the general population is the basis to individual difference normalization in personalized medicine. Self-claimed normal status may not represent health because asymptomatic subjects may carry chronic diseases at their early stage, such as cancer, diabetes mellitus and atherosclerosis. Currently, treatments for non-communicable chronic diseases (NCD) are implemented after disease onset, which is a very much delayed approach from the perspective of predictive, preventive and personalized medicine (PPPM). A NCD pandemic will develop and be accompanied by increased global economic burden for healthcare systems throughout both developed and developing countries. This paper examples the characterization of the suboptimal health status (SHS) which represents a new PPPM challenge in a population with ambiguous health complaints such as general weakness, unexplained medical syndrome (UMS), chronic fatigue syndrome (CFS), myalgic encephalomyelitis (ME), post-viral fatigue syndrome (PVFS) and chronic fatigue immune dysfunction syndrome (CFIDS). Methods We applied clinical informatic approaches and developed a questionnaire—suboptimal health status questionnaire-25 (SHSQ-25) for measuring SHS. The validity and reliability of this approach were evaluated in a small pilot study and then in a cross-sectional study of 3,405 participants in China. Results We found a correlation between SHS and systolic blood pressure, diastolic blood pressure, plasma glucose, total cholesterol and high-density lipoprotein (HDL) cholesterol among men, and a correlation between SHS and systolic blood pressure, diastolic blood pressure, total

  3. Lay knowledge, social movements and the use of medicines: Personal reflections.

    PubMed

    Britten, Nicky; Maguire, Kath

    2016-03-01

    This article consists of two personal reflections about the changing status of lay knowledge over the last 20 years. The first reflection is by Nicky Britten from the perspective of a sociologist working in medical schools whose interest in this topic was motivated by my own personal experience of health care and of teaching general practitioners. Starting with the problematic deficit model of 'ignorant patients', I trace the literature on patient-centredness, shared decision-making, lay knowledge, public involvement in research and social movements. Looking at medicines use in particular, I deplore the continued hegemony of the concept of compliance in the face of extensively documented problems with the licensing, regulation, prescribing and monitoring of medicines. I argue that lay knowledge is now taken more seriously, not so much because of advocacy by clinicians and academics, but because of social movements and social action. We may have moved from 'anecdotes' to 'lived experience' but there is still a way to go, particularly when it comes to medicines use. I end with a possible future scenario. The second reflection is by Kath Maguire and is a response from the perspective of someone who came to work in this field with the express purpose of improving engagement with lay knowledge. It questions my own 'layness' and explores the issues raised by Nicky Britten using the lens of lived experience. Finally, it questions the paradigm of social movements and highlights the importance of developing different ways of listening.

  4. Modeling complex workflow in molecular diagnostics: design specifications of laboratory software for support of personalized medicine.

    PubMed

    Gomah, Mohamed E; Turley, James P; Lu, Huimin; Jones, Dan

    2010-01-01

    One of the hurdles to achieving personalized medicine has been implementing the laboratory processes for performing and reporting complex molecular tests. The rapidly changing test rosters and complex analysis platforms in molecular diagnostics have meant that many clinical laboratories still use labor-intensive manual processing and testing without the level of automation seen in high-volume chemistry and hematology testing. We provide here a discussion of design requirements and the results of implementation of a suite of lab management tools that incorporate the many elements required for use of molecular diagnostics in personalized medicine, particularly in cancer. These applications provide the functionality required for sample accessioning and tracking, material generation, and testing that are particular to the evolving needs of individualized molecular diagnostics. On implementation, the applications described here resulted in improvements in the turn-around time for reporting of more complex molecular test sets, and significant changes in the workflow. Therefore, careful mapping of workflow can permit design of software applications that simplify even the complex demands of specialized molecular testing. By incorporating design features for order review, software tools can permit a more personalized approach to sample handling and test selection without compromising efficiency.

  5. Biobanks in the era of personalized medicine: objectives, challenges, and innovation: Overview.

    PubMed

    Kinkorová, Judita

    2015-01-01

    Biobanks are an important compound of personalized medicine and strongly support the scientific progress in stratification of population and biomarker discovery and validation due to progress in personalized medicine. Biobanks are an essential tool for new drug discoveries and drug development. Biobanks play an important role in the whole process of patient prevention and prediction, follow-up, and therapy monitoring and optimalization. Biobanks have the specificity in that they cover multidisciplinary approach to the human health combining biological and medical approaches, as well as informative bioinformatics technologies, computationing, and modeling. The importance of biobanks has during the last decade increased in variety and capacity from small collections of samples to large-scale national or international repositories. Collected samples are population-based, disease-specific or rare diseases originating from a diverse profile of individuals. There are various purposes of biobanks, such as diagnostics, pharmacology, or research. Biobanks involve, store, and operate with specific personal information, and as a consequence, such a diversity of biobanking is associated with a broad spectrum of ethical and legal issues. Biobanks are an international phenomenon because any single country, state, or society at the moment is not able to cover all issues involving the whole biobank problematic. Biobanks have an enormous innovative potential in the whole process of biomedical research in the twenty-first century.

  6. Available Tools to Facilitate Early Patient Access to Medicines in the EU and the USA: Analysis of Conditional Approvals and the Implications for Personalized Medicine.

    PubMed

    Leyens, Lada; Richer, Étienne; Melien, Øyvind; Ballensiefen, Wolfgang; Brand, Angela

    2015-01-01

    Scientific knowledge and our understanding of the human body and diseases have limited any possible treatment tailoring to each patient. The technological advances enabling the integration of various data sets (e.g. '-omics', microbiome, epigenetics and environmental exposure) have facilitated a greater understanding of the human body, the molecular basis of disease and all the factors influencing disease onset, progression and response to treatment, thereby ushering in the era of personalized medicine. We evaluate the regulatory approaches available to facilitate early patient access to efficacious and safe compounds in the EU and the USA in order to make more informed recommendations in the future as to the gaps in regulations for early patient access. An in-depth analysis of conditional approvals (EU) and accelerated approvals (USA) is performed based on the publicly available information (European public assessment reports and a summary review of products approved under both programmes). The types of product, indications, time to approval and type of evidence submitted were analysed. Between 2007 and early 2015, 17 products were conditionally approved in the EU and 25 in the USA, most of them in the area of oncology and based on evidence from phase II clinical trial data. Early approval of promising products based on data from early phases of development is already possible in the EU and the USA. Some of the improvements could entail implementing a rolling assessment of evidence in Europe and extending the scope of early dialogues.

  7. Molecular imaging with optics: primer and case for near-infrared fluorescence techniques in personalized medicine.

    PubMed

    Sevick-Muraca, Eva M; Rasmussen, John C

    2008-01-01

    We compare and contrast the development of optical molecular imaging techniques with nuclear medicine with a didactic emphasis for initiating readers into the field of molecular imaging. The nuclear imaging techniques of gamma scintigraphy, single-photon emission computed tomography, and positron emission tomography are first briefly reviewed. The molecular optical imaging techniques of bioluminescence and fluorescence using gene reporter/probes and gene reporters are described prior to introducing the governing factors of autofluorescence and excitation light leakage. The use of dual-labeled, near-infrared excitable and radio-labeled agents are described with comparative measurements between planar fluorescence and nuclear molecular imaging. The concept of time-independent and -dependent measurements is described with emphasis on integrating time-dependent measurements made in the frequency domain for 3-D tomography. Finally, we comment on the challenges and progress for translating near-infrared (NIR) molecular imaging agents for personalized medicine.

  8. Cancer Subclonal Genetic Architecture as a Key to Personalized Medicine1

    PubMed Central

    Rehemtulla, Alnawaz

    2013-01-01

    The future of personalized oncological therapy will likely rely on evidence-based medicine to integrate all of the available evidence to delineate the most efficacious treatment option for the patient. To undertake evidence-based medicine through use of targeted therapy regimens, identification of the specific underlying causative mutation(s) driving growth and progression of a patient's tumor is imperative. Although molecular subtyping is important for planning and treatment, intraclonal genetic diversity has been recently highlighted as having significant implications for biopsy-based prognosis. Overall, delineation of the clonal architecture of a patient's cancer and how this will impact on the selection of the most efficacious therapy remain a topic of intense interest. PMID:24403863

  9. From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges

    PubMed Central

    Bianchi, Diana W

    2015-01-01

    Thus far, the focus of personalized medicine has been the prevention and treatment of conditions that affect adults. Although advances in genetic technology have been applied more frequently to prenatal diagnosis than to fetal treatment, genetic and genomic information is beginning to influence pregnancy management. Recent developments in sequencing the fetal genome combined with progress in understanding fetal physiology using gene expression arrays indicate that we could have the technical capabilities to apply an individualized medicine approach to the fetus. Here I review recent advances in prenatal genetic diagnostics, the challenges associated with these new technologies and how the information derived from them can be used to advance fetal care. Historically, the goal of prenatal diagnosis has been to provide an informed choice to prospective parents. We are now at a point where that goal can and should be expanded to incorporate genetic, genomic and transcriptomic data to develop new approaches to fetal treatment. PMID:22772565

  10. PART of the WHOLE: A Case Study in Wellness-Oriented Personalized Medicine

    PubMed Central

    Gibson, Greg; Marigorta, Urko M.; Ojagbeghru, Elohor R.; Park, Subin

    2015-01-01

    We describe the Wellness and Health Omics Linked to the Environment (WHOLE) personalized medicine profile for a 50-year-old Caucasian male living in Atlanta, Georgia. Based on the principle that genomic medicine will be most effective when presented in the context of an individual’s clinical and lifestyle data, we propose the use of a “risk radar” that summarizes health risks in eight domains. Rather than providing overwhelming lists of potentially deleterious genetic variants, we argue that profiles should be palatable, actionable, reproducible, and teachable: the PART principle. Genetic risk scores for this individual are strikingly concordant for his height, body mass index (BMI), waist hip ration (WHR), and cholesterol, and blood transcriptome data agrees with and complements his complete blood counts. Despite enjoying currently good health, his risk radar highlights metabolic disease as his major health concern. PMID:26604864

  11. Systematic Pharmacogenomics Analysis of a Malay Whole Genome: Proof of Concept for Personalized Medicine

    PubMed Central

    Salleh, Mohd Zaki; Teh, Lay Kek; Lee, Lian Shien; Ismet, Rose Iszati; Patowary, Ashok; Joshi, Kandarp; Pasha, Ayesha; Ahmed, Azni Zain; Janor, Roziah Mohd; Hamzah, Ahmad Sazali; Adam, Aishah; Yusoff, Khalid; Hoh, Boon Peng; Hatta, Fazleen Haslinda Mohd; Ismail, Mohamad Izwan; Scaria, Vinod; Sivasubbu, Sridhar

    2013-01-01

    Background With a higher throughput and lower cost in sequencing, second generation sequencing technology has immense potential for translation into clinical practice and in the realization of pharmacogenomics based patient care. The systematic analysis of whole genome sequences to assess patient to patient variability in pharmacokinetics and pharmacodynamics responses towards drugs would be the next step in future medicine in line with the vision of personalizing medicine. Methods Genomic DNA obtained from a 55 years old, self-declared healthy, anonymous male of Malay descent was sequenced. The subject's mother died of lung cancer and the father had a history of schizophrenia and deceased at the age of 65 years old. A systematic, intuitive computational workflow/pipeline integrating custom algorithm in tandem with large datasets of variant annotations and gene functions for genetic variations with pharmacogenomics impact was developed. A comprehensive pathway map of drug transport, metabolism and action was used as a template to map non-synonymous variations with potential functional consequences. Principal Findings Over 3 million known variations and 100,898 novel variations in the Malay genome were identified. Further in-depth pharmacogenetics analysis revealed a total of 607 unique variants in 563 proteins, with the eventual identification of 4 drug transport genes, 2 drug metabolizing enzyme genes and 33 target genes harboring deleterious SNVs involved in pharmacological pathways, which could have a potential role in clinical settings. Conclusions The current study successfully unravels the potential of personal genome sequencing in understanding the functionally relevant variations with potential influence on drug transport, metabolism and differential therapeutic outcomes. These will be essential for realizing personalized medicine through the use of comprehensive computational pipeline for systematic data mining and analysis. PMID:24009664

  12. Personalized In Vitro and In Vivo Cancer Models to Guide Precision Medicine | Office of Cancer Genomics

    Cancer.gov

    Precision medicine is an approach that takes into account the influence of individuals' genes, environment, and lifestyle exposures to tailor interventions. Here, we describe the development of a robust precision cancer care platform that integrates whole-exome sequencing with a living biobank that enables high-throughput drug screens on patient-derived tumor organoids. To date, 56 tumor-derived organoid cultures and 19 patient-derived xenograft (PDX) models have been established from the 769 patients enrolled in an Institutional Review Board-approved clinical trial.

  13. The Coriell personalized medicine collaborative pharmacogenomics appraisal, evidence scoring and interpretation system

    PubMed Central

    2013-01-01

    Implementation of pharmacogenomics (PGx) in clinical care can lead to improved drug efficacy and reduced adverse drug reactions. However, there has been a lag in adoption of PGx tests in clinical practice. This is due in part to a paucity of rigorous systems for translating published clinical and scientific data into standardized diagnostic tests with clear therapeutic recommendations. Here we describe the Pharmacogenomics Appraisal, Evidence Scoring and Interpretation System (PhAESIS), developed as part of the Coriell Personalized Medicine Collaborative research study, and its application to seven commonly prescribed drugs. PMID:24134832

  14. Functional MR Imaging Techniques in Oncology in the Era of Personalized Medicine.

    PubMed

    Benz, Matthias R; Vargas, Hebert Alberto; Sala, Evis

    2016-02-01

    DW and DCE MR imaging contribute significantly to diagnosis, treatment planning, response assessment, and prognosis in personalized cancer medicine. Nevertheless, the need for further standardization of these techniques needs to be addressed. Whole-body DW MR imaging is an exciting field; however, future studies need to investigate in more depth the biologic significance of the findings depicted, their prognostic relevance, and cost-effectiveness in comparison with MDCT and PET/CT. New MR imaging probes, such as targeted or activatable contrast agents and dynamic nuclear hyperpolarization, show great promise to further improve the care of patients with cancer in the near future.

  15. Functional MRI techniques in oncology in the era of personalized medicine

    PubMed Central

    Benz, Matthias R.; Vargas, Hebert Alberto; Sala, Evis

    2016-01-01

    SYNOPSIS DW and DCE MRI already contribute significantly to several aspects of personalized cancer medicine, namely diagnosis, treatment planning, response assessment, and prognosis. Nevertheless, the need for further standardization of theses imaging techniques is beyond question, and needs to be addressed. Whole body DW MRI is an exciting field, however future studies need to investigate in more depth the biologic significance of the findings depicted, their prognostic relevance and cost effectiveness in comparison to MDCT and PET/CT. New MR imaging probes such as targeted or activatable contrast agents and dynamic nuclear hyperpolarization show great promise to further improve the care of cancer patients in the near future. PMID:26613872

  16. Open Access Integrated Therapeutic and Diagnostic Platforms for Personalized Cardiovascular Medicine

    PubMed Central

    Gladding, Patrick A.; Cave, Andrew; Zareian, Mehran; Smith, Kevin; Hussan, Jagir; Hunter, Peter; Erogbogbo, Folarin; Aguilar, Zoraida; Martin, David S.; Chan, Eugene; Homer, Margie L.; Shevade, Abhijit V.; Kassemi, Mohammad; Thomas, James D.; Schlegel, Todd T.

    2013-01-01

    It is undeniable that the increasing costs in healthcare are a concern. Although technological advancements have been made in healthcare systems, the return on investment made by governments and payers has been poor. The current model of care is unsustainable and is due for an upgrade. In developed nations, a law of diminishing returns has been noted in population health standards, whilst in the developing world, westernized chronic illnesses, such as diabetes and cardiovascular disease have become emerging problems. The reasons for these trends are complex, multifactorial and not easily reversed. Personalized medicine has the potential to have a significant impact on these issues, but for it to be truly successful, interdisciplinary mass collaboration is required. We propose here a vision for open-access advanced analytics for personalized cardiac diagnostics using imaging, electrocardiography and genomics. PMID:25562653

  17. Aiming at the sweet side of cancer: aberrant glycosylation as possible target for personalized-medicine.

    PubMed

    Padler-Karavani, Vered

    2014-09-28

    One of the frontiers in cancer personalized-medicine aims at glycosylation. Cells are covered with a dense sugar coat of glycolipids, glycoproteins and free glycans. In cancer, the characteristic cell surface glycosylation is frequently transformed due to altered expression of glycan-modifying enzymes. This often leads to aberrant expression of sialic acids (Sia) that cap glycan-chains. Additionally, dietary intake of the non-human Sia N-glycolylneuraminic acid (Neu5Gc) leads to natural metabolic-glycoengineering of human carcinomas that accumulate and express Neu5Gc. This Sia provokes a polyclonal anti-Neu5Gc xeno-autoantibodies response that can exacerbate cancer. This review highlights cancer-associated changes in Sia expression and their potential for personalized-theranostics.

  18. An interdisciplinary approach to personalized medicine: case studies from a cardiogenetics clinic.

    PubMed

    Erskine, Kathleen E; Griffith, Eleanor; Degroat, Nicole; Stolerman, Marina; Silverstein, Louise B; Hidayatallah, Nadia; Wasserman, David; Paljevic, Esma; Cohen, Lilian; Walsh, Christine A; McDonald, Thomas; Marion, Robert W; Dolan, Siobhan M

    2013-01-01

    In the genomic age, the challenges presented by various inherited conditions present a compelling argument for an interdisciplinary model of care. Cardiac arrhythmias with a genetic basis, such as long QT syndrome, require clinicians with expertise in many specialties to address the complex genetic, psychological, ethical and medical issues involved in treatment. The Montefiore-Einstein Center for CardioGenetics has been established to provide personalized, interdisciplinary care for families with a history of sudden cardiac death or an acute cardiac event. Four vignettes of patient care are presented to illustrate the unique capacity of an interdisciplinary model to address genetic, psychological, ethical and medical issues. Because interdisciplinary clinics facilitate collaboration among multiple specialties, they allow for individualized, comprehensive care to be delivered to families who experience complex inherited medical conditions. As the genetic basis of many complex conditions is discovered, the advantages of an interdisciplinary approach for delivering personalized medicine will become more evident.

  19. Impact of genetic dynamics and single-cell heterogeneity on development of nonstandard personalized medicine strategies for cancer

    PubMed Central

    Beckman, Robert A.; Schemmann, Gunter S.; Yeang, Chen-Hsiang

    2012-01-01

    Cancers are heterogeneous and genetically unstable. Current practice of personalized medicine tailors therapy to heterogeneity between cancers of the same organ type. However, it does not yet systematically address heterogeneity at the single-cell level within a single individual’s cancer or the dynamic nature of cancer due to genetic and epigenetic change as well as transient functional changes. We have developed a mathematical model of personalized cancer therapy incorporating genetic evolutionary dynamics and single-cell heterogeneity, and have examined simulated clinical outcomes. Analyses of an illustrative case and a virtual clinical trial of over 3 million evaluable “patients” demonstrate that augmented (and sometimes counterintuitive) nonstandard personalized medicine strategies may lead to superior patient outcomes compared with the current personalized medicine approach. Current personalized medicine matches therapy to a tumor molecular profile at diagnosis and at tumor relapse or progression, generally focusing on the average, static, and current properties of the sample. Nonstandard strategies also consider minor subclones, dynamics, and predicted future tumor states. Our methods allow systematic study and evaluation of nonstandard personalized medicine strategies. These findings may, in turn, suggest global adjustments and enhancements to translational oncology research paradigms. PMID:22891318

  20. Infectious Disease Management through Point-of-Care Personalized Medicine Molecular Diagnostic Technologies

    PubMed Central

    Bissonnette, Luc; Bergeron, Michel G.

    2012-01-01

    Infectious disease management essentially consists in identifying the microbial cause(s) of an infection, initiating if necessary antimicrobial therapy against microbes, and controlling host reactions to infection. In clinical microbiology, the turnaround time of the diagnostic cycle (>24 hours) often leads to unnecessary suffering and deaths; approaches to relieve this burden include rapid diagnostic procedures and more efficient transmission or interpretation of molecular microbiology results. Although rapid nucleic acid-based diagnostic testing has demonstrated that it can impact on the transmission of hospital-acquired infections, we believe that such life-saving procedures should be performed closer to the patient, in dedicated 24/7 laboratories of healthcare institutions, or ideally at point of care. While personalized medicine generally aims at interrogating the genomic information of a patient, drug metabolism polymorphisms, for example, to guide drug choice and dosage, personalized medicine concepts are applicable in infectious diseases for the (rapid) identification of a disease-causing microbe and determination of its antimicrobial resistance profile, to guide an appropriate antimicrobial treatment for the proper management of the patient. The implementation of point-of-care testing for infectious diseases will require acceptance by medical authorities, new technological and communication platforms, as well as reimbursement practices such that time- and life-saving procedures become available to the largest number of patients. PMID:25562799

  1. New Strategies in Personalized Medicine for Solid Tumors: Molecular Markers and Clinical Trial Designs

    PubMed Central

    Jürgensmeier, Juliane M.; Eder, Joseph P.; Herbst, Roy S.

    2017-01-01

    The delineation of signaling pathways to understand tumor biology combined with the rapid development of technologies that allow broad molecular profiling and data analysis, has led to a new era of personalized medicine in oncology. Many academic institutions now routinely profile patients and discuss them in personalized medicine tumor boards before making treatment recommendations. Clinical trials initiated by pharmaceutical companies often require specific markers for enrollment or at least explore multiple options for future markers. In addition to the still small number of targeted agents that are approved for the therapy of patients with histological and molecularly defined tumors, there is a broad range of novel targeted agents in development that are undergoing clinical studies with companion profiling to determine the best responding patient population. While the present focus of profiling are genetic analyses, additional testing of RNA, protein and immune parameters are being developed and incorporated in clinical research and are likely to contribute significantly to future patient selection and treatment approaches. As the advances in tumor biology and human genetics have identified promising tumor targets, the ongoing clinical evaluation of novel agents will now need to show if the promise can be translated into benefit for patients. PMID:25183480

  2. Infectious Disease Management through Point-of-Care Personalized Medicine Molecular Diagnostic Technologies.

    PubMed

    Bissonnette, Luc; Bergeron, Michel G

    2012-05-02

    Infectious disease management essentially consists in identifying the microbial cause(s) of an infection, initiating if necessary antimicrobial therapy against microbes, and controlling host reactions to infection. In clinical microbiology, the turnaround time of the diagnostic cycle (>24 hours) often leads to unnecessary suffering and deaths; approaches to relieve this burden include rapid diagnostic procedures and more efficient transmission or interpretation of molecular microbiology results. Although rapid nucleic acid-based diagnostic testing has demonstrated that it can impact on the transmission of hospital-acquired infections, we believe that such life-saving procedures should be performed closer to the patient, in dedicated 24/7 laboratories of healthcare institutions, or ideally at point of care. While personalized medicine generally aims at interrogating the genomic information of a patient, drug metabolism polymorphisms, for example, to guide drug choice and dosage, personalized medicine concepts are applicable in infectious diseases for the (rapid) identification of a disease-causing microbe and determination of its antimicrobial resistance profile, to guide an appropriate antimicrobial treatment for the proper management of the patient. The implementation of point-of-care testing for infectious diseases will require acceptance by medical authorities, new technological and communication platforms, as well as reimbursement practices such that time- and life-saving procedures become available to the largest number of patients.

  3. The 3 H and BMSEST Models for Spirituality in Multicultural Whole-Person Medicine

    PubMed Central

    Anandarajah, Gowri

    2008-01-01

    PURPOSE The explosion of evidence in the last decade supporting the role of spirituality in whole-person patient care has prompted proposals for a move to a biopsychosocial-spiritual model for health. Making this paradigm shift in today’s multicultural societies poses many challenges, however. This article presents 2 theoretical models that provide common ground for further exploration of the role of spirituality in medicine. METHODS The 3 H model (head, heart, hands) and the BMSEST models (body, mind, spirit, environment, social, transcendent) evolved from the author’s 12-year experience with curricula development regarding spirituality and medicine, 16-year experience as an attending family physician and educator, lived experience with both Hinduism and Christianity since childhood, and a lifetime study of the world’s great spiritual traditions. The models were developed, tested with learners, and refined. RESULTS The 3 H model offers a multidimensional definition of spirituality, applicable across cultures and belief systems, that provides opportunities for a common vocabulary for spirituality. Therapeutic options, from general spiritual care (compassion, presence, and the healing relationship), to specialized spiritual care (eg, by clinical chaplains), to spiritual self-care are discussed. The BMSEST model provides a conceptual framework for the role of spirituality in the larger health care context, useful for patient care, education, and research. Interactions among the 6 BMSEST components, with references to ongoing research, are proposed. CONCLUSIONS Including spirituality in whole-person care is a way of furthering our understanding of the complexities of human health and well-being. The 3 H and BMSEST models suggest a multidimensional and multidisciplinary approach based on universal concepts and a foundation in both the art and science of medicine. PMID:18779550

  4. Personalized medicine and the role of health economics and outcomes research: issues, applications, emerging trends, and future research.

    PubMed

    O'Donnell, John C

    2013-01-01

    The decade since the completion of the sequencing of the human genome has witnessed significant advances in the incorporation of genomic information in diagnostic, treatment, and reimbursement practices. Indeed, as case in point, there are now several dozen commercially available genomic tests routinely applied across a wide range of disease states in predictive or prognostic applications. Moreover, many involved in the advancement of personalized medicine would view emerging approaches to stratify patients in meaningful ways beyond genomic information as a signal of the progress made. Yet despite these advances, there remains a general sense of dissatisfaction about the progress of personalized medicine in terms of its contribution to the drug development process, to the efficiency and effectiveness of health care delivery, and ultimately to the provision of the right treatment to the right patient at the right time. Academicians, payers, and manufacturers alike are struggling not only with how to embed the new insights that personalized medicine promises but also with the fundamental issues of application in early drug development, implications for health technology assessment, new demands on traditional health economic and outcomes research methods, and implications for reimbursement and access. In fact, seemingly prosaic issues such as the definition and composition of the term "personalized medicine" are still unresolved. Regardless of these issues, practitioners are increasingly compelled to find practical solutions to the challenges and opportunities presented by the evolving face of personalized medicine today. Accordingly, the articles comprising this Special Issue offer applied perspectives geared toward professionals and policymakers in the field grappling with developing, assessing, implementing, and reimbursing personalized medicine approaches. Starting with a framework with which to characterize personalized medicine, this Special Issue proceeds to

  5. Practicing Pathology in the Era of Big Data and Personalized Medicine

    PubMed Central

    Gu, Jiang; Taylor, Clive R.; Phil, D

    2014-01-01

    The traditional task of the pathologist is to assist physicians in making the correct diagnosis of diseases at the earliest possible stage to effectuate the optimal treatment strategy for each individual patient. In this respect surgical pathology (the traditional tissue diagnosis) is but a tool. It is not, of itself, the purpose of pathology practice; and change is in the air. This January 2014 issue of Applied Immunohistochemistry and Molecular Morphology (AIMM) embraces that change by the incorporation of the agenda and content of the journal Diagnostic Molecular Morphology (DMP). Over a decade ago AIMM introduced and promoted the concept of “molecular morphology,” and has sought to publish molecular studies that correlate with the morphologic features that continue to define cancer and many diseases. That intent is now reinforced and extended by the merger with DMP, as a logical and timely response to the growing impact of a wide range of genetic and molecular technologies that are beginning to reshape the way in which pathology is practiced. The use of molecular and genomic techniques already demonstrates clear value in the diagnosis of disease, with treatment tailored specifically to individual patients. Personalized medicine is the future, and personalized medicine demands personalized pathology. The need for integration of the flood of new molecular data, with surgical pathology, digital pathology, and the full range of pathology data in the electronic medical record has never been greater. This review describes the possible impact of these pressures upon the discipline of pathology, and examines possible outcomes. There is a sense of excitement and adventure. Active adaption and innovation are required. The new AIMM, incorporating DMP, seeks to position itself for a central role in this process. PMID:24326463

  6. Practicing pathology in the era of big data and personalized medicine.

    PubMed

    Gu, Jiang; Taylor, Clive R

    2014-01-01

    The traditional task of the pathologist is to assist physicians in making the correct diagnosis of diseases at the earliest possible stage to effectuate the optimal treatment strategy for each individual patient. In this respect surgical pathology (the traditional tissue diagnosis) is but a tool. It is not, of itself, the purpose of pathology practice; and change is in the air. This January 2014 issue of Applied Immunohistochemistry and Molecular Morphology (AIMM) embraces that change by the incorporation of the agenda and content of the journal Diagnostic Molecular Morphology (DMP). Over a decade ago AIMM introduced and promoted the concept of "molecular morphology," and has sought to publish molecular studies that correlate with the morphologic features that continue to define cancer and many diseases. That intent is now reinforced and extended by the merger with DMP, as a logical and timely response to the growing impact of a wide range of genetic and molecular technologies that are beginning to reshape the way in which pathology is practiced. The use of molecular and genomic techniques already demonstrates clear value in the diagnosis of disease, with treatment tailored specifically to individual patients. Personalized medicine is the future, and personalized medicine demands personalized pathology. The need for integration of the flood of new molecular data, with surgical pathology, digital pathology, and the full range of pathology data in the electronic medical record has never been greater. This review describes the possible impact of these pressures upon the discipline of pathology, and examines possible outcomes. There is a sense of excitement and adventure. Active adaption and innovation are required. The new AIMM, incorporating DMP, seeks to position itself for a central role in this process.

  7. Challenges, Solutions, and Quality Metrics of Personal Genome Assembly in Advancing Precision Medicine

    PubMed Central

    Xiao, Wenming; Wu, Leihong; Yavas, Gokhan; Simonyan, Vahan; Ning, Baitang; Hong, Huixiao

    2016-01-01

    -response, tailoring drug therapy and detecting tumors. We believe the precision medicine would largely benefit from bioinformatics solutions, particularly for personal genome assembly. PMID:27110816

  8. Relationship between Personality Profiles and Suicide Attempt via Medicine Poisoning among Hospitalized Patients: A Case-Control Study.

    PubMed

    Shafiee-Kandjani, Ali Reza; Amiri, Shahrokh; Arfaie, Asghar; Ahmadi, Azadeh; Farvareshi, Mahmoud

    2014-01-01

    Objectives. Inflexible personality traits play an important role in the development of maladaptive behaviors among patients who attempt suicide. This study was conducted to investigate the relationship between personality profiles and suicide attempt via medicine poisoning among the patients hospitalized in a public hospital. Materials and Methods. Fifty-nine patients who attempted suicide for the first time and hospitalized in the poisoning ward were selected as the experimental group. Sixty-three patients hospitalized in the other wards for a variety of reasons were selected as the adjusted control group. Millon Clinical Multiaxial Personality Inventory, 3rd version (MCMI-III) was used to assess the personality profiles. Results. The majority of the suicide attempters were low-level graduates (67.8% versus 47.1%, OR = 2.36). 79.7% of the suicide attempters were suffering from at least one maladaptive personality profile. The most common maladaptive personality profiles among the suicide attempters were depressive personality disorder (40.7%) and histrionic personality disorder (32.2%). Among the syndromes the most common ones were anxiety clinical syndrome (23.7%) and major depression (23.7%). Conclusion. Major depression clinical syndrome, histrionic personality disorder, anxiety clinical syndrome, and depressive personality disorder are among the predicators of first suicide attempts for the patients hospitalized in the public hospital due to the medicine poisoning.

  9. Relationship between Personality Profiles and Suicide Attempt via Medicine Poisoning among Hospitalized Patients: A Case-Control Study

    PubMed Central

    Shafiee-Kandjani, Ali Reza; Amiri, Shahrokh; Arfaie, Asghar; Ahmadi, Azadeh; Farvareshi, Mahmoud

    2014-01-01

    Objectives. Inflexible personality traits play an important role in the development of maladaptive behaviors among patients who attempt suicide. This study was conducted to investigate the relationship between personality profiles and suicide attempt via medicine poisoning among the patients hospitalized in a public hospital. Materials and Methods. Fifty-nine patients who attempted suicide for the first time and hospitalized in the poisoning ward were selected as the experimental group. Sixty-three patients hospitalized in the other wards for a variety of reasons were selected as the adjusted control group. Millon Clinical Multiaxial Personality Inventory, 3rd version (MCMI-III) was used to assess the personality profiles. Results. The majority of the suicide attempters were low-level graduates (67.8% versus 47.1%, OR = 2.36). 79.7% of the suicide attempters were suffering from at least one maladaptive personality profile. The most common maladaptive personality profiles among the suicide attempters were depressive personality disorder (40.7%) and histrionic personality disorder (32.2%). Among the syndromes the most common ones were anxiety clinical syndrome (23.7%) and major depression (23.7%). Conclusion. Major depression clinical syndrome, histrionic personality disorder, anxiety clinical syndrome, and depressive personality disorder are among the predicators of first suicide attempts for the patients hospitalized in the public hospital due to the medicine poisoning. PMID:27433491

  10. Cell-free DNA and next-generation sequencing in the service of personalized medicine for lung cancer

    PubMed Central

    Bennett, Catherine W.; Berchem, Guy; Kim, Yeoun Jin; El-Khoury, Victoria

    2016-01-01

    Personalized medicine has emerged as the future of cancer care to ensure that patients receive individualized treatment specific to their needs. In order to provide such care, molecular techniques that enable oncologists to diagnose, treat, and monitor tumors are necessary. In the field of lung cancer, cell free DNA (cfDNA) shows great potential as a less invasive liquid biopsy technique, and next-generation sequencing (NGS) is a promising tool for analysis of tumor mutations. In this review, we outline the evolution of cfDNA and NGS and discuss the progress of using them in a clinical setting for patients with lung cancer. We also present an analysis of the role of cfDNA as a liquid biopsy technique and NGS as an analytical tool in studying EGFR and MET, two frequently mutated genes in lung cancer. Ultimately, we hope that using cfDNA and NGS for cancer diagnosis and treatment will become standard for patients with lung cancer and across the field of oncology. PMID:27589834

  11. Personalized medicine beyond genomics: alternative futures in big data-proteomics, environtome and the social proteome.

    PubMed

    Özdemir, Vural; Dove, Edward S; Gürsoy, Ulvi K; Şardaş, Semra; Yıldırım, Arif; Yılmaz, Şenay Görücü; Ömer Barlas, I; Güngör, Kıvanç; Mete, Alper; Srivastava, Sanjeeva

    2017-01-01

    proteomics. The proposed nested governance structure is comprised of (a) scientists, (b) ethicists, and (c) scholars in the nascent field of "ethics-of-ethics", and aims to cultivate a robust social proteome for personalized medicine. Ostrom often noted that such nested governance designs offer assurance that political power embedded in innovation processes is distributed evenly and is not concentrated disproportionately in a single overbearing stakeholder or person. We agree with this assessment and conclude by underscoring the synergistic value of social and biological proteomes to realize the full potentials of proteomics science for personalized medicine in psychiatry in the present era of Big Data.

  12. A Personalized Medicine Approach for Asian Americans with the Aldehyde Dehydrogenase 2*2 Variant

    PubMed Central

    Gross, Eric R.; Zambelli, Vanessa O.; Small, Bryce A.; Ferreira, Julio C.B.; Chen, Che-Hong; Mochly-Rosen, Daria

    2015-01-01

    Asian Americans are one of the fastest-growing populations in the United States. A relatively large subset of this population carries a unique loss-of-function point mutation in aldehyde dehydrogenase 2 (ALDH2), ALDH2*2. Found in approximately 560 million people of East Asian descent, ALDH2*2 reduces enzymatic activity by approximately 60% to 80% in heterozygotes. Furthermore, this variant is associated with a higher risk for several diseases affecting many organ systems, including a particularly high incidence relative to the general population of esophageal cancer, myocardial infarction, and osteoporosis. In this review, we discuss the pathophysiology associated with the ALDH2*2 variant, describe why this variant needs to be considered when selecting drug treatments, and suggest a personalized medicine approach for Asian American carriers of this variant. We also discuss future clinical and translational perspectives regarding ALDH2*2 research. PMID:25292432

  13. Defining a comprehensive verotype using electronic health records for personalized medicine.

    PubMed

    Boland, Mary Regina; Hripcsak, George; Shen, Yufeng; Chung, Wendy K; Weng, Chunhua

    2013-12-01

    The burgeoning adoption of electronic health records (EHR) introduces a golden opportunity for studying individual manifestations of myriad diseases, which is called 'EHR phenotyping'. In this paper, we break down this concept by: relating it to phenotype definitions from Johannsen; comparing it to cohort identification and disease subtyping; introducing a new concept called 'verotype' (Latin: vere = true, actually) to represent the 'true' population of similar patients for treatment purposes through the integration of genotype, phenotype, and disease subtype (eg, specific glucose value pattern in patients with diabetes) information; analyzing the value of the 'verotype' concept for personalized medicine; and outlining the potential for using network-based approaches to reverse engineer clinical disease subtypes.

  14. Genomics and epigenomics: new promises of personalized medicine for cancer patients.

    PubMed

    Schweiger, Michal-Ruth; Barmeyer, Christian; Timmermann, Bernd

    2013-09-01

    Recent years have brought about a marked extension of our understanding of the somatic basis of cancer. Parallel to the large-scale investigation of diverse tumor genomes the knowledge arose that cancer pathologies are most often not restricted to single genomic events. In contrast, a large number of different alterations in the genomes and epigenomes come together and promote the malignant transformation. The combination of mutations, structural variations and epigenetic alterations differs between each tumor, making individual diagnosis and treatment strategies necessary. This view is summarized in the new discipline of personalized medicine. To satisfy the ideas of this approach each tumor needs to be fully characterized and individual diagnostic and therapeutic strategies designed. Here, we will discuss the power of high-throughput sequencing technologies for genomic and epigenomic analyses. We will provide insight into the current status and how these technologies can be transferred to routine clinical usage.

  15. Towards a balanced value business model for personalized medicine: an outlook.

    PubMed

    Koelsch, Christof; Przewrocka, Joanna; Keeling, Peter

    2013-01-01

    Novel targeted drugs, mainly in oncology, have commanded substantial price premiums in the recent past. Consequently, the attention of pharmaceutical companies has shifted away from the traditional low-price and high-volume blockbuster business model to drugs that command high, and sometimes extremely high, prices in limited markets defined by targeted patient populations. This model may have already passed its zenith, as the impact of more and more high-priced drugs coming to market substantially increases their combined burden on payors and public health finances. This article introduces a new 'balanced value' business model for personalized medicine, leveraging the emerging opportunities to reduce drug development cost and time for targeted therapies. This model allows pharmaceutical companies to charge prices for targeted therapy below the likely future thresholds for payors' willingness to pay, at the same time preserving attractive margins for the drug developers.

  16. Implementation of DNA chips obtained by microprojection for diagnostic and personalized medicine.

    PubMed

    Cabrera, M; Jaber, M; Dugas, V; Broutin, J; Vnuk, E; Cloarec, J P; Souteyrand, E; Martin, J R

    2004-05-01

    It is expected that rapidly emergent new fields of application for DNA chips will be Diagnostic and Personalized Medicine. These new applications will require a limited number of probes, generally from 100 to 1000. So, after a brief review of the existing techniques to manufacture DNA chips, which are efficient for R&D applications and which often require a higher number of probes, we shall first report some advances in the silanization of the substrates and the grafting of probes to improve the robustness and the reliability of the devices. Then we shall discuss two manufacturing processes working at the scale of a nanoliter of reactant: ex situ and in situ fabrication by microprojection. We shall see how these processes are complementary and may be used to design and produce chips, at a large scale, for these new applications.

  17. Research Ethics in the Era of Personalized Medicine: Updating Science's Contract with Society

    PubMed Central

    Meslin, Eric M.; Cho, Mildred K.

    2010-01-01

    With the completed sequence of the human genome has come the prospect of substantially improving the quality of life for millions through personalized medicine approaches. Still, any advances in this direction require research involving human subjects. For decades science and ethics have enjoyed an allegiance reflected in a common set of ethical principles and procedures guiding the conduct of research with human subjects. Some of these principles emphasize avoiding harm over maximizing benefit. In this paper we revisit the priority given to these ethical principles – particularly the principles that support a cautious approach to science – and propose a reframing of the ‘social contract’ between science and society that emphasizes reciprocity and meeting public needs. PMID:20805701

  18. Hybrid 3D printing: a game-changer in personalized cardiac medicine?

    PubMed

    Kurup, Harikrishnan K N; Samuel, Bennett P; Vettukattil, Joseph J

    2015-12-01

    Three-dimensional (3D) printing in congenital heart disease has the potential to increase procedural efficiency and patient safety by improving interventional and surgical planning and reducing radiation exposure. Cardiac magnetic resonance imaging and computed tomography are usually the source datasets to derive 3D printing. More recently, 3D echocardiography has been demonstrated to derive 3D-printed models. The integration of multiple imaging modalities for hybrid 3D printing has also been shown to create accurate printed heart models, which may prove to be beneficial for interventional cardiologists, cardiothoracic surgeons, and as an educational tool. Further advancements in the integration of different imaging modalities into a single platform for hybrid 3D printing and virtual 3D models will drive the future of personalized cardiac medicine.

  19. A selective voting convex-hull ensemble procedure for personalized medicine.

    PubMed

    Nagarajan, Radhakrishnan; Kodell, Ralph L

    2012-01-01

    Genes work in concert as a system as opposed to independent entities and mediate disease states. There has been considerable interest in understanding variations in molecular signatures between normal and disease states. However, a majority of techniques implicitly assume homogeneity between samples within a given group and use a fixed set of genes in discerning the groups. The proposed study overcomes these caveats by using a selective-voting convex-hull ensemble procedure that accommodates molecular heterogeneity within and between groups. The significance of the study is its potential to selectively retrieve sample-specific ensemble sets and investigate variations in the networks corresponding to the ensemble set across these samples. These characteristics fit well within the scope of personalized medicine and comparative effectiveness research that emphasize on patient-tailored interventions. While the results are demonstrated on colon cancer gene expression profiles the approach as such is generic and can be readily extended to other settings.

  20. Precision Medicine With Point-of-Care Ultrasound: The Future of Personalized Pediatric Emergency Care.

    PubMed

    Kessler, David; Ng, Lorraine; Tessaro, Mark; Fischer, Jason

    2017-03-01

    The Precision Medicine Initiative spearheaded by the National Institute of Health has pioneered a new model of health care focused on health care delivery that is tailored to an individual. Medical advances have already provided clinicians with the tools to better predict treatment outcomes based on the individual needs of each patient's disease process. Three-dimensional printing allows medical devices and implants to be custom made-to-order. Technological advances in preoperative imaging have augmented the ability for surgeons to plan a specific surgical approach for each patient. In a similar vein, point-of-care ultrasound offers the emergency care provider an opportunity to move beyond protocols and provide precise medical care tailored to the acute needs of each ill or injured emergent patient. In this article, we explore several cutting-edge applications of point-of-care ultrasound that can help providers develop a personalized approach to resuscitation and emergent procedures in pediatrics.

  1. Personalized Medicine: how to Switch from the Concept to the Integration into the Clinical Development Plan to Obtain Marketing Authorization.

    PubMed

    Becquemont, Laurent; Bordet, Régis; Cellier, Dominic

    2012-01-01

    One of the challenges of the coming years is to personalize medicine in order to provide each patient with an individualized treatment plan. The three objectives of personalized medicine are to refine diagnosis, rationalize treatment and engage patients in a preventive approach. Personalization can be characterized by various descriptors whether related to the field, biology, imaging, type of lesion of the entity to be treated, comorbidity factors, coprescriptions or the environment As part of personalized medicine focused on biological markers including genetics or genomics, the integration of the clinical development plan to obtain marketing authorization may be segmented in 3 stages with a known descriptor identified before clinical development, a known descriptor discovered during clinical development or a known descriptor known after clinical development. For each stage, it is important to clearly define the technical optimization elements, to specify the expectations and objectives, to examine the methodological aspects of each clinical development phase and finally to consider the fast changing regulatory requirements in view of the few registered therapeutics complying with the definition of personalized medicine as well as the significant technological breakthroughs according to the screened and selected biomarkers. These considerations should be integrated in view of the time required for clinical development from early phase to MA, i.e. more than 10 years. Moreover, business models related to the economic environment should be taken into account when deciding whether or not to retain a biomarker allowing the selection of target populations in a general population.

  2. From animal models to human disease: a genetic approach for personalized medicine in ALS.

    PubMed

    Picher-Martel, Vincent; Valdmanis, Paul N; Gould, Peter V; Julien, Jean-Pierre; Dupré, Nicolas

    2016-07-11

    Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron disease in adults. Classical ALS is characterized by the death of upper and lower motor neurons leading to progressive paralysis. Approximately 10 % of ALS patients have familial form of the disease. Numerous different gene mutations have been found in familial cases of ALS, such as mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP-43), fused in sarcoma (FUS), C9ORF72, ubiquilin-2 (UBQLN2), optineurin (OPTN) and others. Multiple animal models were generated to mimic the disease and to test future treatments. However, no animal model fully replicates the spectrum of phenotypes in the human disease and it is difficult to assess how a therapeutic effect in disease models can predict efficacy in humans. Importantly, the genetic and phenotypic heterogeneity of ALS leads to a variety of responses to similar treatment regimens. From this has emerged the concept of personalized medicine (PM), which is a medical scheme that combines study of genetic, environmental and clinical diagnostic testing, including biomarkers, to individualized patient care. In this perspective, we used subgroups of specific ALS-linked gene mutations to go through existing animal models and to provide a comprehensive profile of the differences and similarities between animal models of disease and human disease. Finally, we reviewed application of biomarkers and gene therapies relevant in personalized medicine approach. For instance, this includes viral delivering of antisense oligonucleotide and small interfering RNA in SOD1, TDP-43 and C9orf72 mice models. Promising gene therapies raised possibilities for treating differently the major mutations in familial ALS cases.

  3. Harnessing next-generation informatics for personalizing medicine: a report from AMIA's 2014 Health Policy Invitational Meeting.

    PubMed

    Wiley, Laura K; Tarczy-Hornoch, Peter; Denny, Joshua C; Freimuth, Robert R; Overby, Casey L; Shah, Nigam; Martin, Ross D; Sarkar, Indra Neil

    2016-03-01

    The American Medical Informatics Association convened the 2014 Health Policy Invitational Meeting to develop recommendations for updates to current policies and to establish an informatics research agenda for personalizing medicine. In particular, the meeting focused on discussing informatics challenges related to personalizing care through the integration of genomic or other high-volume biomolecular data with data from clinical systems to make health care more efficient and effective. This report summarizes the findings (n = 6) and recommendations (n = 15) from the policy meeting, which were clustered into 3 broad areas: (1) policies governing data access for research and personalization of care; (2) policy and research needs for evolving data interpretation and knowledge representation; and (3) policy and research needs to ensure data integrity and preservation. The meeting outcome underscored the need to address a number of important policy and technical considerations in order to realize the potential of personalized or precision medicine in actual clinical contexts.

  4. Electrodeless electro-hydrodynamic printing of nano-suspensions for personalized medicines

    NASA Astrophysics Data System (ADS)

    Elele, Ezinwa; Shen, Yueyang; Boppana, Rajyalakshmi; Afolabi, Afolawemi; Bilgili, Ecevit A.; Khusid, Boris

    2012-11-01

    Drop-on-demand (DOD) dosing is a promising strategy for manufacturing of personalized medicines. However, current DOD methods developed for chemically and thermally stable, low-viscosity inks are of limited use for pharmaceuticals due to fundamentally different functional requirements. To overcome their deficiency, we developed an electro-hydrodynamic (EHD) DOD method (Appl Phys Lett 97, 233501, 2010) that operates on fluids of up to 30 Pas over a wide range of droplet sizes, does not require direct contact of a fluid with electrodes and provides a precise control over the droplet volume. As most drugs are poorly water soluble, the use of nanoparticles dispersed in water is a promising method for enhancing the drug dissolution rate and bioavailability. The work demonstrates the EHD DOD ability to print aqueous suspensions of drug nanoparticles on highly-porous polymer films. We present a scaling analysis that captures the essential physics of drop evolution. These results show that EHD DOD offers a powerful tool for the evolving field of pharmaceutical technologies for tailoring medicines to individual patient's needs by printing a vast array of predefined amounts of therapeutics arranged in a specific pattern on a porous film. The work was supported by NSF Engineering Research Center on Structured Organic Particulate Systems.

  5. Integrating Personalized Medicine in the Canadian Environment: Efforts Facilitating Oncology Clinical Research.

    PubMed

    Syme, Rachel; Carleton, Bruce; Leyens, Lada; Richer, Etienne

    2015-01-01

    There is currently a rapid evolution of clinical practices based on the introduction of patient stratification and molecular diagnosis that is likely to improve health outcomes. Building on a strong research base, complemented by strong support from clinicians and health authorities, the oncology field is at the forefront of this evolution. Yet, clinical research is still facing many challenges that need to be addressed in order to conduct necessary studies and effectively translate medical breakthroughs based on personalized medicine into standards of care. Leveraging its universal health care system and on resources developed to support oncology clinical research, Canada is well positioned to join the international efforts deployed to address these challenges. Available resources include a broad range of structures and funding mechanisms, ranging from direct clinical trial support to post-marketing surveillance. Here, we propose a clinical model for the introduction of innovation for precision medicine in oncology that starts with patients' and clinicians' unmet needs to initiate a cycle of discovery, validation, translation and sustainability development.

  6. Personalized Medicine Across Disciplines and without Borders. Vural Özdemir speaks to Hannah Wilson, Commissioning Editor

    PubMed Central

    Özdemir, Vural

    2015-01-01

    Vural Özdemir began his career as a medical doctor in Turkey in 1990, as a scientist at the Faculty of Medicine, University of Toronto (ON, Canada), where he obtained his MSc and PhD in clinical pharmacology (1998), and subsequently completed a 4-year postdoctoral fellowship in personalized medicine with the late Werner Kalow, a founding pioneer in the field of pharmacogenetics. Özdemir contributed to the conception and development of the repeated drug administration (RDA) method as a novel way of measuring pharmacological heritability, pharmacogenetics of psychiatric drugs and studying the clinical role of CYP2D6 genetic variations for endogenous neurotransmitter metabolism in the human brain. Recognizing that scientific knowledge is a product of both technology and social systems that often remain unaccounted for (e.g., human values, distribution of power and human agency, immigration, racial disparities, socioeconomic class and equity), Özdemir discovered the literature in the field of science and technology studies, a rich scholarly enquiry that asks fundamental questions and challenges assumptions regarding the backstage of technoscience, situates technology within its political context and makes hitherto unseen connections that frame science in ways that enable robust, responsible and sustainable innovation. From 2008 to 2012, Özdemir was awarded a mid-career “science and society” fellowship in order to retool as independent faculty and senior scientist in science and technology studies (STS), conducting research on research and examining his own trade – pharmacogenetics science – as an insider on the outside. Recently, Özdemir was awarded senior career support from the Scientific and Tehnological Research Council of Turkey, is an Associate Professor of both Communications and Human Genetics at the Faculty of Communications and serves as an advisor to the Rector for International Technology and Innovation Policy, Gaziantep University in Turkey

  7. [Blood pressure monitoring - Status quo and future : A contribution to the personalized medicine].

    PubMed

    Engelmann, L; Kunig, S; Kunig, H

    2016-10-01

    Sustainment of life demands that the heart create sufficient pressure to maintain enough flow to keep the body healthy and oxygenated. Blood pressures can be easily measured, while volume measurements required additional invasive procedures. In analogy to volumetrically determined ejection fraction, a pressure ejection fraction EF(P) may be calculated. When standardized to heart rate and body surface area, a new, effective performance metric may be defined. These metrics enable the long-term monitoring of the critically ill patient. When presented in a performance diagram, the metrics contain prognostic implications and enable a real-time evaluation of the efficacy of therapeutic measures. Until now, pressure-related prognostic statements were based on statistical averages, which by definition apply to groups. With this new analytical approach, we have the ability to provide patient-specific therapeutics in an area of medicine that requires individualized treatment. Here, we show preliminary results of applying a mathematical risk analysis to blood pressure metrics to assess therapeutic risk.

  8. Personalized Medicine in Ophthalmology: From Pharmacogenetic Biomarkers to Therapeutic and Dosage Optimization

    PubMed Central

    Ong, Frank S.; Kuo, Jane Z.; Wu, Wei-Chi; Cheng, Ching-Yu; Blackwell, Wendell-Lamar B.; Taylor, Brian L.; Grody, Wayne W.; Rotter, Jerome I.; Lai, Chi-Chun; Wong, Tien Y.

    2013-01-01

    Rapid progress in genomics and nanotechnology continue to advance our approach to patient care, from diagnosis and prognosis, to targeting and personalization of therapeutics. However, the clinical application of molecular diagnostics in ophthalmology has been limited even though there have been demonstrations of disease risk and pharmacogenetic associations. There is a high clinical need for therapeutic personalization and dosage optimization in ophthalmology and may be the focus of individualized medicine in this specialty. In several retinal conditions, such as age-related macular degeneration, diabetic macular edema, retinal vein occlusion and pre-threshold retinopathy of prematurity, anti-vascular endothelial growth factor therapeutics have resulted in enhanced outcomes. In glaucoma, recent advances in cytoskeletal agents and prostaglandin molecules that affect outflow and remodel the trabecular meshwork have demonstrated improved intraocular pressure control. Application of recent developments in nanoemulsion and polymeric micelle for targeted delivery and drug release are models of dosage optimization, increasing efficacy and improving outcomes in these major eye diseases. PMID:24624293

  9. Translating personalized medicine using new genetic technologies in clinical practice: the ethical issues

    PubMed Central

    Ormond, Kelly E; Cho, Mildred K

    2014-01-01

    The integration of new genetic technologies into clinical practice holds great promise for the personalization of medical care, particularly the use of large-scale DNA sequencing for genome-wide genetic testing. However, these technologies also yield unprecedented amounts of information whose clinical implications are not fully understood, and we are still developing technical standards for measuring sequence accuracy. These technical and clinical challenges raise ethical issues that are similar to but qualitatively different from those that we are accustomed to dealing with for traditional medical genetics. The sheer amount of information afforded by genome sequencing requires rethinking of how to implement core ethical principles including, but not limited to: informed consent, privacy and data ownership and sharing, technology regulation, issues of access, particularly as new technology is integrated into clinical practice, and issues of potential stigma and impact on perceptions of disability. In this article, we will review the issues of informed consent, privacy, data ownership and technology regulation as they relate to the emerging field of personalized medicine and genomics. PMID:25221608

  10. 3D printing of medicinal products and the challenge of personalized therapy.

    PubMed

    Zema, Lucia; Melocchi, Alice; Maroni, Alessandra; Gazzaniga, Andrea

    2017-03-24

    By 3D printing, solid objects of any shape are fabricated through layer-by-layer addition of materials based on a digital model. At present, such a technique is broadly exploited in many industrial fields because of major advantages in terms of reduced times and costs of development and production. In the biomedical and pharmaceutical domains, the interest in 3D printing is growing in step with the needs of personalized medicine. Printed scaffolds and prostheses have partly replaced medical devices produced by more established techniques and, more recently, 3D printing has been proposed for the manufacturing of drug products. Notably, the availability of patient-tailored pharmaceuticals would be of utmost importance for children, elderly subjects, poor and high metabolizers and individuals undergoing multiple drug treatments. 3D printing encompasses a range of differing techniques, each involving advantages and open issues. Particularly, solidification of powder, extrusion and stereolithography have been applied to the manufacturing of drug products. The main challenge to their exploitation for personalized pharmacological therapy is likely to be related to the regulatory issues involved and to implementation of production models that may allow to efficiently turn the therapeutic needs of individual patients into small batches of appropriate drug products meeting preset quality requirements.

  11. Cardiovascular pharmacogenetics: a promise for genomically-guided therapy and personalized medicine.

    PubMed

    Zaiou, M; El Amri, H

    2017-03-01

    Cardiovascular disease (CVD) is the leading cause of death worldwide. The basic causes of CVD are not fully understood yet. Substantial evidence suggests that genetic predisposition plays a vital role in the physiopathology of this complex disease. Hence, identification of genetic contributors to CVD will likely add diagnostic accuracy and better prediction of an individual's risk. With high-throughput genetics and genomics technology and newer genome-wide study approaches, a number of genetic variations across the human genome were uncovered. Evidence suggests that genetic defects could influence CVD development and inter-individual responses to widely used cardiovascular drugs like clopidogrel, aspirin, warfarin, and statins, and therefore, they may be integrated into clinical practice. If clinically validated, better understanding of these genetic variations may provide new opportunities for personalized diagnostic, pharmacogenetic-based drug selection and best treatment in personalized medicine. However, numerous gaps remain unsolved due to the lack of underlying pathological mechanisms for how genetic predisposition could contribute to CVD. This review provides an overview of the extraordinary scientific progress in our understanding of genetic and genomic basis of CVD as well as the development of relevant genetic biomarkers for this disease. Some of the actual limitations to the promise of these markers and their translation for the benefit of patients will be discussed.

  12. Personalized medicine in the paediatric population: the balance between pharmacogenetics progress and bioethics.

    PubMed

    Schiavone, Stefania; Neri, Margherita; Pomara, Cristoforo; Riezzo, Irene; Trabace, Luigia; Turillazzi, Emanuela

    2017-02-07

    Personalized medicine (PM) is becoming increasingly important in contemporary clinical and research scenarios. In the context of PM, pharmacogenomics and pharmacogenetics are aimed at the genetic personalization of drug response. Extrinsic and intrinsic factors may explain inter-individual variability in drug response. Among such factors, age seems to specifically intervene to modulate drug response since normal developmental changes may influence the exposure-response relation. Consequently, the potential benefit of pharmacogenomics (PGx) in the paediatric population is considerable. However, many challenges still exist in incorporating PGx into clinical practice. In fact, drug prescribing in the paediatric population is often based on extrapolation from clinical trials conducted on adults as there is often a lack of paediatric data. Children are not just 'small adults', as they have their own pharmacological characteristics in terms of drug metabolism and efficacy, adverse drug reactions and toxicity. Although children might potentially benefit from such research, many ethical concerns arise at the intersection of the spheres of drug development and genetic testing. Children require particular attention because of their vulnerability both in research and the clinical applications of PGx; furthermore, children range from preterm newborns and neonates to infants and toddlers and to adolescents, thus forming a further heterogeneous target group. In this paper, we focus on some ethically relevant concerns (i.e., informed consent, stigmatization, ancillary information) that might arise as a result of the possible application of PGx tests in both paediatric practice and research.

  13. Paving the way to personalized medicine: production of some theragnostic radionuclides at Brookhaven National Laboratory

    SciTech Connect

    Srivastava S. C.

    2011-06-06

    This paper introduces a relatively novel paradigm that involves specific individual radionuclides or radionuclide pairs that have emissions that allow pre-therapy low-dose imaging plus higher-dose therapy in the same patient. We have made an attempt to sort out and organize a number of such theragnostic radionuclides and radionuclide pairs that may potentially bring us closer to the age-long dream of personalized medicine for performing tailored low-dose molecular imaging (SPECT/CT or PET/CT) to provide the necessary pre-therapy information on biodistribution, dosimetry, the limiting or critical organ or tissue, and the maximum tolerated dose (MTD), etc. If the imaging results then warrant it, it would be possible to perform higher-dose targeted molecular therapy in the same patient with the same radiopharmaceutical. A major problem that remains yet to be fully resolved is the lack of availability, in sufficient quantities, of a majority of the best candidate theragnostic radionuclides in a no-carrier-added (NCA) form. A brief description of the recently developed new or modified methods at BNL for the production of four theragnostic radionuclides, whose nuclear, physical, and chemical characteristics seem to show great promise for personalized cancer therapy are described.

  14. Functional maintenance of differentiated embryoid bodies in microfluidic systems: a platform for personalized medicine.

    PubMed

    Guven, Sinan; Lindsey, Jennifer S; Poudel, Ishwari; Chinthala, Sireesha; Nickerson, Michael D; Gerami-Naini, Behzad; Gurkan, Umut A; Anchan, Raymond M; Demirci, Utkan

    2015-03-01

    Hormone replacement therapies have become important for treating diseases such as premature ovarian failure or menopausal complications. The clinical use of bioidentical hormones might significantly reduce some of the potential risks reportedly associated with the use of synthetic hormones. In the present study, we demonstrate the utility and advantage of a microfluidic chip culture system to enhance the development of personalized, on-demand, treatment modules using embryoid bodies (EBs). Functional EBs cultured on microfluidic chips represent a platform for personalized, patient-specific treatment cassettes that can be cryopreserved until required for treatment. We assessed the viability, differentiation, and functionality of EBs cultured and cryopreserved in this system. During extended microfluidic culture, estradiol, progesterone, testosterone, and anti-müllerian hormone levels were measured, and the expression of differentiated steroidogenic cells was confirmed by immunocytochemistry assay for the ovarian tissue markers anti-müllerian hormone receptor type II, follicle-stimulating hormone receptor, and inhibin β-A and the estrogen biosynthesis enzyme aromatase. Our studies showed that under microfluidic conditions, differentiated steroidogenic EBs continued to secrete estradiol and progesterone at physiologically relevant concentrations (30-120 pg/ml and 150-450 pg/ml, respectively) for up to 21 days. Collectively, we have demonstrated for the first time the feasibility of using a microfluidic chip system with continuous flow for the differentiation and extended culture of functional steroidogenic stem cell-derived EBs, the differentiation of EBs into cells expressing ovarian antigens in a microfluidic system, and the ability to cryopreserve this system with restoration of growth and functionality on thawing. These results present a platform for the development of a new therapeutic system for personalized medicine.

  15. Personalized Medicine and Genomics: Challenges and Opportunities in Assessing Effectiveness, Cost-Effectiveness, and Future Research Priorities

    PubMed Central

    Conti, Rena; Veenstra, David L.; Armstrong, Katrina; Lesko, Lawrence J.; Grosse, Scott D.

    2015-01-01

    Personalized medicine is health care that tailors interventions to individual variation in risk and treatment response. Although medicine has long strived to achieve this goal, advances in genomics promise to facilitate this process. Relevant to present-day practice is the use of genomic information to classify individuals according to disease susceptibility or expected responsiveness to a pharmacologic treatment and to provide targeted interventions. A symposium at the annual meeting of the Society for Medical Decision Making on 23 October 2007 highlighted the challenges and opportunities posed in translating advances in molecular medicine into clinical practice. A panel of US experts in medical practice, regulatory policy, technology assessment, and the financing and organization of medical innovation was asked to discuss the current state of practice and research on personalized medicine as it relates to their own field. This article reports on the issues raised, discusses potential approaches to meet these challenges, and proposes directions for future work. The case of genetic testing to inform dosing with warfarin, an anticoagulant, is used to illustrate differing perspectives on evidence and decision making for personalized medicine. PMID:20086232

  16. Designing Laboratory Exercises for the Undergraduate Molecular Biology/Biochemistry Student: Techniques and Ethical Implications Involved in Personalized Medicine

    ERIC Educational Resources Information Center

    Weinlander, Kenneth M.; Hall, David J.

    2010-01-01

    Personalized medicine refers to medical care that involves genetically screening patients for their likelihood to develop various disorders. Commercial genome screening only involves identifying a consumer's genotype for a few single nucleotide polymorphisms. A phenotype (such as an illness) is greatly influenced by three factors: genes, gene…

  17. Strategic aspects of higher education reform to cultivate specialists in diagnostic and biopharma industry as applicable to Predictive, Preventive and Personalized Medicine as the Medicine of the Future.

    PubMed

    Studneva, М; Mandrik, M; Song, Sh; Tretyak, E; Krasnyuk, I; Yamada, Y; Tukavin, A; Ansari, A; Kozlov, I; Reading, C; Ma, Y; Krapfenbauer, K; Svistunov, A; Suchkov, S

    2015-01-01

    Predictive, Preventive and Personalized Medicine as the Medicine of the Future represents an innovative model for advanced healthcare and robust platform for relevant industrial branches for diagnostics and pharmaceutics. However, rapid market penetration of new medicines and technologies demands the implementation of reforms not only in the spheres of biopharmaceutical industries and healthcare, but also in education. Therefore, the problem of the fundamental, modern preparation of specialists in bioengineering and affiliated fields is becoming particularly urgent, and it requires significant revision of training programs of higher education practice into current medical universities. Modernization and integration of widely accepted medical and teaching standards require consolidation of both the natural sciences and medical sciences that may become the conceptual basis for a university medical education. The main goal of this training is not simply to achieve advanced training and expansion of technological skills, but to provide development of novel multifaceted approaches to build academic schools for future generations.

  18. How comparative effectiveness research can help advance 'personalized medicine' in cancer treatment.

    PubMed

    Ramsey, Scott D; Veenstra, David; Tunis, Sean R; Garrison, Louis; Crowley, John J; Baker, Laurence H

    2011-12-01

    The use of biomarkers to "personalize" cancer treatment--identifying discrete genes, proteins, or other indicators that can differentiate one type of cancer from another and enable the use of highly tailored therapies--offers tremendous potential for improved outcomes and lower treatment costs. However, the rapid development of cancer biomarker, or genomic, tests--combined with a paucity of evidence to support the effectiveness of the tests--presents a challenge for patients, clinicians, and other stakeholders. In this article we propose that comparative effectiveness research be used to strengthen what is now a haphazard process for developing and marketing cancer biomarker tests. We suggest novel funding approaches and a systematic process for moving from regulatory approval to the generation of evidence that meets the needs of stakeholders and, ultimately, patients.

  19. A personal reflection on social media in medicine: I stand, no wiser than before.

    PubMed

    Weiner, John

    2015-04-01

    Social media has enabled information, communication and reach for health professionals. There are clear benefits to patients and consumers when health information is broadcast. But there are unanswered questions on professionalism, education, and the complex mentoring relationship between doctor and student. This personal perspective raises a number of questions: What is online medical professionalism? Can online medical professionalism be taught? Can online medical professionalism be enforced? Is an online presence necessary to achieve the highest level of clinical excellence? Is there evidence that social media is superior to traditional methods of teaching in medical education? Does social media encourage multitasking and impairment of the learning process? Are there downsides to the perfunctory laconic nature of social media? Does social media waste time that is better spent attaining clinical skills?

  20. Culture and Drug Profiling of Patient Derived Malignant Pleural Effusions for Personalized Cancer Medicine

    PubMed Central

    Pietilae, Elina; Vlajnic, Tatjana; Baschiera, Betty; Arabi, Leila; Lorber, Thomas; Oeggerli, Martin; Savic, Spasenija; Obermann, Ellen; Singer, Thomas; Rothschild, Sacha I.; Zippelius, Alfred; Roth, Adrian B.; Bubendorf, Lukas

    2016-01-01

    Introduction The use of patients’ own cancer cells for in vitro selection of the most promising treatment is an attractive concept in personalized medicine. Human carcinoma cells from malignant pleural effusions (MPEs) are suited for this purpose since they have already adapted to the liquid environment in the patient and do not depend on a stromal cell compartment. Aim of this study was to develop a systematic approach for the in-vitro culture of MPEs to analyze the effect of chemotherapeutic as well as targeted drugs. Methods MPEs from patients with solid tumors were selected for this study. After morphological and molecular characterization, they were cultured in medium supplemented with patient-derived sterile-filtered effusion supernatant. Growth characteristics were monitored in real-time using the xCELLigence system. MPEs were treated with a targeted therapeutic (erlotinib) according to the mutational status or chemotherapeutics based on the recommendation of the oncologists. Results We have established a robust system for the ex-vivo culture of MPEs and the application of drug tests in-vitro. The use of an antibody based magnetic cell separation system for epithelial cells before culture allowed treatment of effusions with only moderate tumor cell proportion. Experiments using drugs and drug-combinations revealed dose-dependent and specific growth inhibitory effects of targeted drugs. Conclusions We developed a new approach for the ex-vivo culture of MPEs and the application of drug tests in-vitro using real-time measuring of cell growth, which precisely reproduced the effect of clinically established treatments by standard chemotherapy and targeted drugs. This sets the stage for future studies testing agents against specific targets from genomic profiling of metastatic tumor cells and multiple drug-combinations in a personalized manner. PMID:27548442

  1. Looking for a Person-Centered Medicine: Non Conventional Medicine in the Conventional European and Italian Setting

    PubMed Central

    Roberti di Sarsina, Paolo; Iseppato, Ilaria

    2011-01-01

    In Italy, the use of non conventional medicines (NCMs) is spreading among people as in the rest of Europe. Sales of alternative remedies are growing, and likewise the number of medical doctors (MDs) who practise NCM/complementary and alternative medicine (CAM). However, in Italy as in other countries of the European Union, at the present time the juridical/legal status of NCM/CAM is not well established, mainly due to the lack of any national law regulating NCM/CAM professional training, practice and public supply and the absence of government-promoted scientific research in this field. This is an obstacle to safeguarding the patient's interests and freedom of choice, especially now that dissatisfaction with biomedicine is inclining more and more people to look for a holistic and patient-centered form of medicine. PMID:19505973

  2. Genetic determinants in head and neck squamous cell carcinoma and their influence on global personalized medicine

    PubMed Central

    Michmerhuizen, Nicole L.; Birkeland, Andrew C.; Bradford, Carol R.; Brenner, J. Chad

    2016-01-01

    While sequencing studies have provided an improved understanding of the genetic landscape of head and neck squamous cell carcinomas (HNSCC), there remains a significant lack of genetic data derived from non-Caucasian cohorts. Additionally, there is wide variation in HNSCC incidence and mortality worldwide both between and within various geographic regions. These epidemiologic differences are in part accounted for by varying exposure to environmental risk factors such as tobacco, alcohol, high risk human papilloma viruses and betel quid. However, inherent genetic factors may also play an important role in this variability. As limited sequencing data is available for many populations, the involvement of unique genetic factors in HNSCC pathogenesis from epidemiologically diverse groups is unknown. Here, we review current knowledge about the epidemiologic, environmental, and genetic variation in HNSCC cohorts globally and discuss future studies necessary to further our understanding of these differences. Long-term, a more complete understanding of the genetic drivers found in diverse HNSCC cohorts may help the development of personalized medicine protocols for patients with rare or complex genetic events. PMID:27551333

  3. Personalized Medicine in Gastrointestinal Stromal Tumor (GIST): Clinical Implications of the Somatic and Germline DNA Analysis

    PubMed Central

    Ravegnini, Gloria; Nannini, Margherita; Sammarini, Giulia; Astolfi, Annalisa; Biasco, Guido; Pantaleo, Maria A.; Hrelia, Patrizia; Angelini, Sabrina

    2015-01-01

    Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract. They are characterized by gain of function mutations in KIT or PDGFRA tyrosine kinase receptors, with their consequent constitutive activation. The gold standard therapy is imatinib that offers a good and stable response for approximately 18–36 months. However, resistance is very common and it is vital to identify new biomarkers. Up until now, there have been two main approaches with focus to characterize novel targets. On the one hand, the focus is on the tumor genome, as the final clinical outcome depends mainly from the cancer specific mutations/alterations patterns. However, the germline DNA is important as well, and it is inconceivable to think the patients response to the drug is not related to it. Therefore the aim of this review is to outline the state of the art of the personalized medicine in GIST taking into account both the tumor DNA (somatic) and the patient DNA (germline). PMID:26184165

  4. Personalized Medicine in Gastrointestinal Stromal Tumor (GIST): Clinical Implications of the Somatic and Germline DNA Analysis.

    PubMed

    Ravegnini, Gloria; Nannini, Margherita; Sammarini, Giulia; Astolfi, Annalisa; Biasco, Guido; Pantaleo, Maria A; Hrelia, Patrizia; Angelini, Sabrina

    2015-07-09

    Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract. They are characterized by gain of function mutations in KIT or PDGFRA tyrosine kinase receptors, with their consequent constitutive activation. The gold standard therapy is imatinib that offers a good and stable response for approximately 18-36 months. However, resistance is very common and it is vital to identify new biomarkers. Up until now, there have been two main approaches with focus to characterize novel targets. On the one hand, the focus is on the tumor genome, as the final clinical outcome depends mainly from the cancer specific mutations/alterations patterns. However, the germline DNA is important as well, and it is inconceivable to think the patients response to the drug is not related to it. Therefore the aim of this review is to outline the state of the art of the personalized medicine in GIST taking into account both the tumor DNA (somatic) and the patient DNA (germline).

  5. Assessing value of innovative molecular diagnostic tests in the concept of predictive, preventive, and personalized medicine.

    PubMed

    Akhmetov, Ildar; Bubnov, Rostyslav V

    2015-01-01

    Molecular diagnostic tests drive the scientific and technological uplift in the field of predictive, preventive, and personalized medicine offering invaluable clinical and socioeconomic benefits to the key stakeholders. Although the results of diagnostic tests are immensely influential, molecular diagnostic tests (MDx) are still grudgingly reimbursed by payers and amount for less than 5 % of the overall healthcare costs. This paper aims at defining the value of molecular diagnostic test and outlining the most important components of "value" from miscellaneous assessment frameworks, which go beyond accuracy and feasibility and impact the clinical adoption, informing healthcare resource allocation decisions. The authors suggest that the industry should facilitate discussions with various stakeholders throughout the entire assessment process in order to arrive at a consensus about the depth of evidence required for positive marketing authorization or reimbursement decisions. In light of the evolving "value-based healthcare" delivery practices, it is also recommended to account for social and ethical parameters of value, since these are anticipated to become as critical for reimbursement decisions and test acceptance as economic and clinical criteria.

  6. The economics of personalized medicine: commercialization as a driver of return on investment.

    PubMed

    Keeling, Peter; Roth, Mollie; Zietlow, Tom

    2012-09-15

    Optimizing commercialization of drugs is the sine qua non of the pharmaceutical industry and intensive work has been done to characterize fully the drivers of drug adoption and understand the resources required to optimize those drivers for full adoption of drugs. Conversely, while the pharmaceutical industry is actively embracing the new personalized medicine (PM) paradigm, much work remains to be done to understand fully what drives adoption of targeted therapies and how to resource those drivers appropriately. While the industry is slowly learning from its early missteps, progress is still inhibited by a lack of understanding of the specific hurdles that individual development teams face in developing and commercializing targeted therapies and the requirement for budgets specifically aimed at driving test adoption. This article considers the benefits of optimizing commercial planning in the PM space and the potential negative impact in potentially failing to optimize that planning. Real world insights are used to illustrate that a far broader commercial lens is required in the PM space and will touch on functional areas not usually included in the context of 'commercial' decisions.

  7. Resiniferatoxin for Pain Treatment: An Interventional Approach to Personalized Pain Medicine

    PubMed Central

    Iadarola, Michael J.; Gonnella, Gian Luigi

    2015-01-01

    This review examines existing preclinical and clinical studies related to resiniferatoxin (RTX) and its potential uses in pain treatment. Like capsaicin, RTX is a vanilloid receptor (TRPV1) agonist, only more potent. This increased potency confers both quantitative and qualitative advantages in terms of drug action on the TRPV1 containing nerve terminal, which result in an increased efficacy and a long duration of action. RTX can be delivered by a central route of administration through injection into the subarachnoid space around the lumbosacral spinal cord. It can also be administered peripherally into a region of skin or deep tissue where primary afferents nerves terminate, or directly into a nerve trunk or a dorsal root ganglion. The central route is currently being evaluated as a treatment for intractable pain in patients with advanced cancer. Peripheral administration offers the possibility to treat a wide diversity of pain problems because of the ability to bring the treatment to the site of the pain (the peripheral generator). While not all pain disorders are appropriate for RTX, tailoring treatment to an individual patient's needs via a selective and local intervention that chemically targets a specific population of nerve terminals provides a new capability for pain therapy and a simplified and effective approach to personalized pain medicine. PMID:26779292

  8. Personalized Medicine Approaches in Prostate Cancer Employing Patient Derived 3D Organoids and Humanized Mice

    PubMed Central

    Bartucci, Monica; Ferrari, Anna C.; Kim, Isaac Yi; Ploss, Alexander; Yarmush, Martin; Sabaawy, Hatem E.

    2016-01-01

    Prostate cancer (PCa) is the most common malignancy and the second most common cause of cancer death in Western men. Despite its prevalence, PCa has proven very difficult to propagate in vitro. PCa represents a complex organ-like multicellular structure maintained by the dynamic interaction of tumoral cells with parenchymal stroma, endothelial and immune cells, and components of the extracellular matrix (ECM). The lack of PCa models that recapitulate this intricate system has hampered progress toward understanding disease progression and lackluster therapeutic responses. Tissue slices, monolayer cultures and genetically engineered mouse models (GEMM) fail to mimic the complexities of the PCa microenvironment or reproduce the diverse mechanisms of therapy resistance. Moreover, patient derived xenografts (PDXs) are expensive, time consuming, difficult to establish for prostate cancer, lack immune cell-tumor regulation, and often tumors undergo selective engraftments. Here, we describe an interdisciplinary approach using primary PCa and tumor initiating cells (TICs), three-dimensional (3D) tissue engineering, genetic and morphometric profiling, and humanized mice to generate patient-derived organoids for examining personalized therapeutic responses in vitro and in mice co-engrafted with a human immune system (HIS), employing adaptive T-cell- and chimeric antigen receptor- (CAR) immunotherapy. The development of patient specific therapies targeting the vulnerabilities of cancer, when combined with antiproliferative and immunotherapy approaches could help to achieve the full transformative power of cancer precision medicine. PMID:27446916

  9. Practical aspects of NGS-based pathways analysis for personalized cancer science and medicine

    PubMed Central

    Paleeva, Anna; Kremenetskaya, Olga; Vinogradov, Dmitriy

    2016-01-01

    Nowadays, the personalized approach to health care and cancer care in particular is becoming more and more popular and is taking an important place in the translational medicine paradigm. In some cases, detection of the patient-specific individual mutations that point to a targeted therapy has already become a routine practice for clinical oncologists. Wider panels of genetic markers are also on the market which cover a greater number of possible oncogenes including those with lower reliability of resulting medical conclusions. In light of the large availability of high-throughput technologies, it is very tempting to use complete patient-specific New Generation Sequencing (NGS) or other “omics” data for cancer treatment guidance. However, there are still no gold standard methods and protocols to evaluate them. Here we will discuss the clinical utility of each of the data types and describe a systems biology approach adapted for single patient measurements. We will try to summarize the current state of the field focusing on the clinically relevant case-studies and practical aspects of data processing. PMID:27191992

  10. Personalized medicine and follow-up of therapeutic delivery through exploitation of quantum dot toxicity.

    PubMed

    Manshian, Bella B; Jiménez, Julio; Himmelreich, Uwe; Soenen, Stefaan J

    2017-03-05

    Tumor therapy using nanoparticles (NPs) is mainly aimed at using the NPs as carriers for therapeutic drugs or as mediators for external stimuli to generate heat. Recent studies have shown that the toxicity of NPs can also be specifically exploited to kill cancer cells. In the present work, we employ core-only CdTe quantum dots and study their cytotoxicity using a validated high-content screening approach. The data revealed a clear correlation between toxicity and quantum dot degradation, which could be monitored through loss of fluorescence intensity. Based on the in vitro data obtained, the in vivo dose was calculated relative to the estimated number of tumor cells based on luminescence measurements. The obtained results show a clear increase in reproducibility of the therapeutic effect compared to normal conditions, where a set dose of quantum dots was administered regardless of the tumor size. The therapeutic delivery could also be monitored in vivo, where the loss of fluorescence intensity correlated with the anticancer efficacy. The present work highlights the benefits of noninvasive imaging to monitor therapeutic delivery and to optimize treatment via personalized medicine.

  11. Understanding the “black box” of a health-promotion program: Keys to enable health among older persons aging in the context of migration

    PubMed Central

    Barenfeld, Emmelie; Gustafsson, Susanne; Wallin, Lars; Dahlin-Ivanoff, Synneve

    2015-01-01

    Although the need to make health services more accessible to persons who have migrated has been identified, knowledge about health-promotion programs (HPPs) from the perspective of older persons born abroad is lacking. This study explores the design experiences and content implemented in an adapted version of a group-based HPP developed in a researcher–community partnership. Fourteen persons aged 70–83 years or older who had migrated to Sweden from Finland or the Balkan Peninsula were included. A grounded theory approach guided the data collection and analysis. The findings showed how participants and personnel jointly helped raise awareness. The participants experienced three key processes that could open doors to awareness: enabling community, providing opportunities to understand and be understood, and confirming human values and abilities. Depending on how the HPP content and design are being shaped by the group, the key processes could both inhibit or encourage opening doors to awareness. Therefore, this study provides key insights into how to enable health by deepening the understanding of how the exchange of health-promoting messages is experienced to be facilitated or hindered. This study adds to the scientific knowledge base of how the design and content of HPP may support and recognize the capabilities of persons aging in the context of migration. PMID:26654636

  12. Understanding the "black box" of a health-promotion program: Keys to enable health among older persons aging in the context of migration.

    PubMed

    Barenfeld, Emmelie; Gustafsson, Susanne; Wallin, Lars; Dahlin-Ivanoff, Synneve

    2015-01-01

    Although the need to make health services more accessible to persons who have migrated has been identified, knowledge about health-promotion programs (HPPs) from the perspective of older persons born abroad is lacking. This study explores the design experiences and content implemented in an adapted version of a group-based HPP developed in a researcher-community partnership. Fourteen persons aged 70-83 years or older who had migrated to Sweden from Finland or the Balkan Peninsula were included. A grounded theory approach guided the data collection and analysis. The findings showed how participants and personnel jointly helped raise awareness. The participants experienced three key processes that could open doors to awareness: enabling community, providing opportunities to understand and be understood, and confirming human values and abilities. Depending on how the HPP content and design are being shaped by the group, the key processes could both inhibit or encourage opening doors to awareness. Therefore, this study provides key insights into how to enable health by deepening the understanding of how the exchange of health-promoting messages is experienced to be facilitated or hindered. This study adds to the scientific knowledge base of how the design and content of HPP may support and recognize the capabilities of persons aging in the context of migration.

  13. Effective visualization of integrated knowledge and data to enable informed decisions in drug development and translational medicine.

    PubMed

    Brynne, Lena; Bresell, Anders; Sjögren, Niclas

    2013-10-08

    Integrative understanding of preclinical and clinical data is imperative to enable informed decisions and reduce the attrition rate during drug development. The volume and variety of data generated during drug development have increased tremendously. A new information model and visualization tool was developed to effectively utilize all available data and current knowledge. The Knowledge Plot integrates preclinical, clinical, efficacy and safety data by adding two concepts: knowledge from the different disciplines and protein binding.Internal and public available data were gathered and processed to allow flexible and interactive visualizations. The exposure was expressed as the unbound concentration of the compound and the treatment effect was normalized and scaled by including expert opinion on what a biologically meaningful treatment effect would be.The Knowledge Plot has been applied both retrospectively and prospectively in project teams in a number of different therapeutic areas, resulting in closer collaboration between multiple disciplines discussing both preclinical and clinical data. The Plot allows head to head comparisons of compounds and was used to support Candidate Drug selections and differentiation from comparators and competitors, back translation of clinical data, understanding the predictability of preclinical models and assays, reviewing drift in primary endpoints over the years, and evaluate or benchmark compounds in due diligence comparing multiple attributes.The Knowledge Plot concept allows flexible integration and visualization of relevant data for interpretation in order to enable scientific and informed decision-making in various stages of drug development. The concept can be used for communication, decision-making, knowledge management, and as a forward and back translational tool, that will result in an improved understanding of the competitive edge for a particular project or disease area portfolio. In addition, it also builds up a

  14. A Computer-Aided Telephone System to Enable Five Persons with Alzheimer's Disease to Make Phone Calls Independently

    ERIC Educational Resources Information Center

    Perilli, Viviana; Lancioni, Giulio E.; Laporta, Dominga; Paparella, Adele; Caffo, Alessandro O.; Singh, Nirbhay N.; O'Reilly, Mark F.; Sigafoos, Jeff; Oliva, Doretta

    2013-01-01

    This study extended the assessment of a computer-aided telephone system to enable five patients with a diagnosis of Alzheimer's disease to make phone calls independently. The patients were divided into two groups and exposed to intervention according to a non-concurrent multiple baseline design across groups. All patients started with baseline in…

  15. Biomarkers to improve the benefit/risk balance for approved therapeutics: a US FDA perspective on personalized medicine.

    PubMed

    Sapsford, Kim E; Tezak, Zivana; Kondratovich, Marina; Pacanowski, Michael A; Zineh, Issam; Mansfield, Elizabeth

    2010-11-01

    This article highlights a current US FDA perspective concerning the use of biomarker-based diagnostics for personalized medicine. Specifically, current biomarkers that have application for improving the benefit/risk profile of already approved drugs are discussed. The success of biomarkers for use in personalized medicine depends on many factors, including proper evaluation of the usefulness of the biomarker for assessing the event of interest, and the safety and effectiveness of the diagnostic device used to measure the biomarker, which includes appropriate analytical and clinical validation. These points along with the many regulatory concerns regarding co-labeling of drugs and devices and future aspects, such as co-development, will be discussed in this regulatory science focus.

  16. Group-based and personalized care in an age of genomic and evidence-based medicine: a reappraisal.

    PubMed

    Maglo, Koffi N

    2012-01-01

    This article addresses the philosophical and moral foundations of group-based and individualized therapy in connection with population care equality. The U.S. Food and Drug Administration (FDA) recently modified its public health policy by seeking to enhance the efficacy and equality of care through the approval of group-specific prescriptions and doses for some drugs. In the age of genomics, when individualization of care increasingly has become a major concern, investigating the relationship between population health, stratified medicine, and personalized therapy can improve our understanding of the ethical and biomedical implications of genomic medicine. I suggest that the need to optimize population health through population substructure-sensitive research and the need to individualize care through genetically targeted therapies are not necessarily incompatible. Accordingly, the article reconceptualizes a unified goal for modern scientific medicine in terms of individualized equal care.

  17. Medicines

    MedlinePlus

    ... better. In the United States, the Food and Drug Administration is in charge of assuring the safety ... prescription and over-the-counter medicines. Even safe drugs can cause unwanted side effects or interactions with ...

  18. A Conceptual Model of Psychoneurological Symptom Cluster Variation in Women with Breast Cancer: Bringing Nursing Research to Personalized Medicine

    PubMed Central

    Starkweather, Angela R.; Lyon, Debra E.; Elswick, R. K.; Montpetit, Alison J.; Conley, Yvette; McCain, Nancy L.

    2013-01-01

    Personalized medicine applies knowledge about the patient’s individual characteristics in relation to health and intervention outcomes, including treatment response and adverse side-effects, to develop a tailored treatment plan. For women with breast cancer, personalized medicine has substantially improved the rate of survival, however, a high proportion of these women report multiple, co-occurring psychoneurological symptoms over the treatment trajectory that adversely affect their quality of life. In a subset of these women, co-occurring symptoms referred to as symptoms clusters, can persist long after treatment has ended. Over the past decade, research from the field of nursing and other health sciences has specifically examined the potential underlying mechanisms of the psychoneurological symptom cluster in women with breast cancer. Recent findings suggest that epigenetic and genomic factors contribute to inter-individual variability in the experience of psychoneurological symptoms during and after breast cancer treatment. While nursing research has been underrepresented in the field of personalized medicine, these studies represent a shared goal; that is, to improve patient outcomes by considering the individual’s risk of short- and long-term adverse symptoms. The aim of this paper is to introduce a conceptual model of the individual variations that influence psychoneurological symptoms in women with breast cancer, including perceived stress, hypothalamic-pituitary adrenocortical axis dysfunction, inflammation, as well as epigenetic and genomic factors. The proposed concepts will help bring nursing research and personalized medicine together, in hopes that this hitherto neglected and understudied area of biomedical research convergence may ultimately lead to the development of more targeted clinical nursing strategies in breast cancer patients with psychoneurological symptoms. PMID:24497894

  19. What is personalized medicine: sharpening a vague term based on a systematic literature review

    PubMed Central

    2013-01-01

    Background Recently, individualized or personalized medicine (PM) has become a buzz word in the academic as well as public debate surrounding health care. However, PM lacks a clear definition and is open to interpretation. This conceptual vagueness complicates public discourse on chances, risks and limits of PM. Furthermore, stakeholders might use it to further their respective interests and preferences. For these reasons it is important to have a shared understanding of PM. In this paper, we present a sufficiently precise as well as adequate definition of PM with the potential of wide acceptance. Methods For this purpose, in a first step a systematic literature review was conducted to understand how PM is actually used in scientific practice. PubMed was searched using the keywords “individualized medicine”, “individualised medicine”, “personalized medicine” and “personalised medicine” connected by the Boolean operator OR. A data extraction tabloid was developed putting forward a means/ends-division. Full-texts of articles containing the search terms in title or abstract were screened for definitions. Definitions were extracted; according to the means/ends distinction their elements were assigned to the corresponding category. To reduce complexity of the resulting list, summary categories were developed inductively from the data using thematic analysis. In a second step, six well-known criteria for adequate definitions were applied to these categories to derive a so-called precising definition. Results We identified 2457 articles containing the terms PM in title or abstract. Of those 683 contained a definition of PM and were thus included in our review. 1459 ends and 1025 means were found in the definitions. From these we derived the precising definition: PM seeks to improve stratification and timing of health care by utilizing biological information and biomarkers on the level of molecular disease pathways, genetics, proteomics as well as

  20. Accelerated aging in the tumor microenvironment: connecting aging, inflammation and cancer metabolism with personalized medicine.

    PubMed

    Lisanti, Michael P; Martinez-Outschoorn, Ubaldo E; Pavlides, Stephanos; Whitaker-Menezes, Diana; Pestell, Richard G; Howell, Anthony; Sotgia, Federica

    2011-07-01

    Cancer is thought to be a disease associated with aging. Interestingly, normal aging is driven by the production of ROS and mitochondrial oxidative stress, resulting in the cumulative accumulation of DNA damage. Here, we discuss how ROS signaling, NFκB- and HIF1-activation in the tumor microenvironment induces a form of "accelerated aging," which leads to stromal inflammation and changes in cancer cell metabolism. Thus, we present a unified model where aging (ROS), inflammation (NFκB) and cancer metabolism (HIF1), act as co-conspirators to drive autophagy ("self-eating") in the tumor stroma. Then, autophagy in the tumor stroma provides high-energy "fuel" and the necessary chemical building blocks, for accelerated tumor growth and metastasis. Stromal ROS production acts as a "mutagenic motor" and allows cancer cells to buffer-at a distance-exactly how much of a mutagenic stimulus they receive, further driving tumor cell selection and evolution. Surviving cancer cells would be selected for the ability to induce ROS more effectively in stromal fibroblasts, so they could extract more nutrients from the stroma via autophagy. If lethal cancer is a disease of "accelerated host aging" in the tumor stroma, then cancer patients may benefit from therapy with powerful antioxidants. Antioxidant therapy should block the resulting DNA damage, and halt autophagy in the tumor stroma, effectively "cutting off the fuel supply" for cancer cells. These findings have important new implications for personalized cancer medicine, as they link aging, inflammation and cancer metabolism with novel strategies for more effective cancer diagnostics and therapeutics.

  1. State of play of pharmacogenetics and personalized medicine in heart failure.

    PubMed

    Parry, Helen M; Doney, Alex S F; Palmer, Colin N A; Lang, Chim C

    2013-12-01

    Heart failure is a common disease with high levels of morbidity and mortality. A large body of evidence guiding treatment shows prognostic benefit with beta-blockers and angiotensin-converting enzyme inhibitors, while diuretics are commonly prescribed for symptomatic benefit. Wide variation in drug response between clinically similar patients is a significant problem. Evidence suggests this may have a genetic component. Variation in candidate genes including the beta-1, beta-2, and alpha-2 adrenergic receptors, the renin-angiotensin-aldosterone pathway and genes involved in renal electrolyte handling with diuretics may be important. Single-nucleotide polymorphisms (SNPs) potentially influencing drug response include the Arg 389 Gly variant and the Ser 49 Gly variant in the beta-1 adrenergic receptor, the Arg 16 Gly, Gln 27 Glu, and Thr 164 Ile polymorphisms within the beta-2 adrenergic receptor, an insertion at the 287th base pair in the angiotensin-converting enzyme and the Gly 264 Ala mutation in the sodium chloride co-transporter. However, research addressing the clinical significance of these polymorphisms has yielded conflicting results that have had no influence on clinical practice. Genome-wide association studies may provide an alternative approach to discovering genetic variations influencing drug response, a relatively unchartered area in heart failure management. If future work in this area produces a strong case that variation in drug response has a specific and clinically meaningful genetic component, this could be used to guide drug dosing based on genotype; a step forward in the journey toward personally tailored medicine.

  2. Rapid single nucleotide polymorphism detection for personalized medicine applications using planar waveguide fluorescence sensors

    NASA Astrophysics Data System (ADS)

    Herron, James N.; Tolley, Samuel E.; Smith, Richard; Christensen, Douglas A.

    2006-02-01

    Personalized medicine is an emerging field in which clinical diagnostics information about a patient's genotype or phenotype is used to optimize his/her pharmacotherapy. This article evaluates whether planar waveguide fluorescent sensors are suitable for determining such information from patient testing in point-of-care (POC) settings. The model system was Long QT Syndrome, a congenital disease associated with single nucleotide polymorphisms (SNPs) in genes encoding for cardiac ion channels. Three different SNP assay formats were examined: DNA/DNA hybridization, DNA/PNA hybridization (PNA: "peptide nucleic acid"), and single base extension (SBEX). Although DNA/DNA hybridization produced a strong intensity-time response for both wildtype and SNP analytes in a 5-min assay at 32°C, their hybridization rates differed by only 32.7%, which was insufficient for clinical decision-making. Much better differentiation of the two rates was observed at 53°C, where the wildtype's hybridization rate was two-thirds of its maximum value, while that of the SNP was essentially zero. Such all-or-nothing resolution would be adequate for clinical decision-making; however, the elevated temperature and precise temperature control would be hard to achieve in a POC setting. Results from DNA/PNA hybridization studies were more promising. Nearly 20-fold discrimination between wildtype and SNP hybridization rates was observed in a 5-min assay at 30°C, although the low ionic strength conditions required necessitated a de-salting step between sample preparation and SNP detection. SBEX was the most promising of the three, determining the absolute identity of the suspected polymorphism in a 5-min assay at 40°C.

  3. KNOWLEDGE DRIVEN BINNING AND PHEWAS ANALYSIS IN MARSHFIELD PERSONALIZED MEDICINE RESEARCH PROJECT USING BIOBIN.

    PubMed

    Basile, Anna O; Wallace, John R; Peissig, Peggy; McCarty, Catherine A; Brilliant, Murray; Ritchie, Marylyn D

    2016-01-01

    Next-generation sequencing technology has presented an opportunity for rare variant discovery and association of these variants with disease. To address the challenges of rare variant analysis, multiple statistical methods have been developed for combining rare variants to increase statistical power for detecting associations. BioBin is an automated tool that expands on collapsing/binning methods by performing multi-level variant aggregation with a flexible, biologically informed binning strategy using an internal biorepository, the Library of Knowledge (LOKI). The databases within LOKI provide variant details, regional annotations and pathway interactions which can be used to generate bins of biologically-related variants, thereby increasing the power of any subsequent statistical test. In this study, we expand the framework of BioBin to incorporate statistical tests, including a dispersion-based test, SKAT, thereby providing the option of performing a unified collapsing and statistical rare variant analysis in one tool. Extensive simulation studies performed on gene-coding regions showed a Bin-KAT analysis to have greater power than BioBin-regression in all simulated conditions, including variants influencing the phenotype in the same direction, a scenario where burden tests often retain greater power. The use of Madsen- Browning variant weighting increased power in the burden analysis to that equitable with Bin-KAT; but overall Bin-KAT retained equivalent or higher power under all conditions. Bin-KAT was applied to a study of 82 pharmacogenes sequenced in the Marshfield Personalized Medicine Research Project (PMRP). We looked for association of these genes with 9 different phenotypes extracted from the electronic health record. This study demonstrates that Bin-KAT is a powerful tool for the identification of genes harboring low frequency variants for complex phenotypes.

  4. KNOWLEDGE DRIVEN BINNING AND PHEWAS ANALYSIS IN MARSHFIELD PERSONALIZED MEDICINE RESEARCH PROJECT USING BIOBIN*

    PubMed Central

    BASILE, ANNA O; WALLACE, JOHN R; PEISSIG, PEGGY; MCCARTY, CATHERINE A; BRILLIANT, MURRAY

    2015-01-01

    Next-generation sequencing technology has presented an opportunity for rare variant discovery and association of these variants with disease. To address the challenges of rare variant analysis, multiple statistical methods have been developed for combining rare variants to increase statistical power for detecting associations. BioBin is an automated tool that expands on collapsing/binning methods by performing multi-level variant aggregation with a flexible, biologically informed binning strategy using an internal biorepository, the Library of Knowledge (LOKI). The databases within LOKI provide variant details, regional annotations and pathway interactions which can be used to generate bins of biologically-related variants, thereby increasing the power of any subsequent statistical test. In this study, we expand the framework of BioBin to incorporate statistical tests, including a dispersion-based test, SKAT, thereby providing the option of performing a unified collapsing and statistical rare variant analysis in one tool. Extensive simulation studies performed on gene-coding regions showed a Bin-KAT analysis to have greater power than BioBin-regression in all simulated conditions, including variants influencing the phenotype in the same direction, a scenario where burden tests often retain greater power. The use of Madsen-Browning variant weighting increased power in the burden analysis to that equitable with Bin-KAT; but overall Bin-KAT retained equivalent or higher power under all conditions. Bin-KAT was applied to a study of 82 pharmacogenes sequenced in the Marshfield Personalized Medicine Research Project (PMRP). We looked for association of these genes with 9 different phenotypes extracted from the electronic health record. This study demonstrates that Bin-KAT is a powerful tool for the identification of genes harboring low frequency variants for complex phenotypes. PMID:26776191

  5. Concepts of ‘personalization’ in personalized medicine: implications for economic evaluation

    PubMed Central

    Rogowski, Wolf; Payne, Katherine; Schnell-Inderst, Petra; Manca, Andrea; Rochau, Ursula; Jahn, Beate; Alagoz, Oguzhan; Leidl, Reiner; Siebert, Uwe

    2015-01-01

    Context This paper assesses if, and how, existing methods for economic evaluation are applicable to the evaluation of PM and if not, where extension to methods may be required. Method Structured workshop with a pre-defined group of experts (n=47), run using a modified nominal group technique. Workshop findings were recorded using extensive note taking and summarised using thematic data analysis. The workshop was complemented by structured literature searches. Results The key finding emerging from the workshop, using an economic perspective, was that two distinct, but linked, interpretations of the concept of PM exist (personalization by ‘physiology’ or ‘preferences’). These interpretations involve specific challenges for the design and conduct of economic evaluations. Existing evaluative (extra-welfarist) frameworks were generally considered appropriate for evaluating PM. When ‘personalization’ is viewed as using physiological biomarkers, challenges include: representing complex care pathways; representing spill-over effects; meeting data requirements such as evidence on heterogeneity; choosing appropriate time horizons for the value of further research in uncertainty analysis. When viewed as tailoring medicine to patient preferences, further work is needed regarding: revealed preferences, e.g. treatment (non)adherence; stated preferences, e.g. risk interpretation and attitude; consideration of heterogeneity in preferences; and the appropriate framework (welfarism vs. extra-welfarism) to incorporate non-health benefits. Conclusion Ideally, economic evaluations should take account of both interpretations of PM and consider physiology and preferences. It is important for decision makers to be cognizant of the issues involved with the economic evaluation of PM to appropriately interpret the evidence and target future research funding. PMID:25249200

  6. It's Not About "Freudian Couches and Personality Changing Drugs": An Investigation Into Men's Mental Health Help-Seeking Enablers.

    PubMed

    Harding, Christine; Fox, Christopher

    2015-11-01

    Enabling factors that influenced men to seek assistance for mental health concerns--a previous underresearched area--was the primary focus of this research. Past research spanning four decades has focused on men's barriers to mental health help-seeking with limited research positing social norms within men's peer groups and reciprocity as potential mental health help-seeking enablers. Using a qualitative design, nine men were interviewed to identify the positive factors they believed assisted their help-seeking decisions. Social norms, reciprocity, a significant other, and helpfulness of their general practitioner were domains identified in the analysis of participant narratives. The study revealed the participants' mental health and treatment illiteracy. Ignorance and misplaced stereotypes, initially acted as barriers to help-seeking, leading to denial of illness, impeding treatment, and perpetuating stigma. Sportsmen disclosing their mental health issues were identified as a positive influence for other men's help-seeking and assisted in the development of help-seeking as a social norm. The results of this study contribute to understanding the factors that enable men to seek mental health help.

  7. From space medicine to preventive and personalized health care on earth

    NASA Astrophysics Data System (ADS)

    Ongaro, Filippo

    2014-11-01

    The experience of human spaceflight has taught us that aging can be modulated, accelerated and decelerated. This is also confirmed by a number of experiments on animal models. However in order to be effective in managing aging and maintaining quality of life, a new approach needs to be adopted, one that many today call functional medicine or anti-aging medicine that in its essence is very similar to the medical approach provided to the astronauts by space agencies. Space medicine therefore can become a vehicle for the promotion of a new way of doing medicine on Earth.

  8. Exploring educational needs and design aspects of internet-enabled patient education for persons with diabetes: a qualitative interview study

    PubMed Central

    Jafari, Javad; Karimi Moonaghi, Hosein; Zary, Nabil; Masiello, Italo

    2016-01-01

    Objective The objective of this article is to explore the educational needs and design aspects of personalised internet-enabled education for patients with diabetes in Iran. Design Data were collected using semistructured interviews and then qualitatively analysed using inductive content analysis. Participants 9 patients with type 2 diabetes were included. Inclusion criteria were access to and knowledge on how to use the internet. The selection ensured representation based on gender, age, occupation and educational background. Setting The sample population was patients with diabetes who were admitted to an outpatient diabetes clinic in Mashhad, a large city of Iran with about 3 million inhabitants. Results 4 core categories emerged from the data: (1) seeking knowledge about diabetes, including specific knowledge acquisition, patient's interactions and learning requirements; (2) teaching and learning, including using different teaching methods and different ways to learn about the disease; (3) facilitators, including internet and mobile phone use to learn about the disease; and (4) barriers, including lack of internet access, uncertainty of access to the internet and lack of website in the local language and also perceived cultural barriers, such as patients' fears of the internet, lack of time and awareness. Conclusions This study provides a better understanding of the patient's educational expectations and technical needs in relation to internet-enabled education. This knowledge will inform the development of functional mock-ups in the next research phase using a design-based research approach in order to design internet-enabled patient education for self-management of diabetes. PMID:27799245

  9. Personalized medicine in human space flight: using Omics based analyses to develop individualized countermeasures that enhance astronaut safety and performance.

    PubMed

    Schmidt, Michael A; Goodwin, Thomas J

    2013-01-01

    Space flight is one of the most extreme conditions encountered by humans. Advances in Omics methodologies (genomics, transcriptomics, proteomics, and metabolomics) have revealed that unique differences exist between individuals. These differences can be amplified in extreme conditions, such as space flight. A better understanding of individual differences may allow us to develop personalized countermeasure packages that optimize the safety and performance of each astronaut. In this review, we explore the role of "Omics" in advancing our ability to: (1) more thoroughly describe the biological response of humans in space; (2) describe molecular attributes of individual astronauts that alter the risk profile prior to entering the space environment; (3) deploy Omics techniques in the development of personalized countermeasures; and (4) develop a comprehensive Omics-based assessment and countermeasure platform that will guide human space flight in the future. In this review, we advance the concept of personalized medicine in human space flight, with the goal of enhancing astronaut safety and performance. Because the field is vast, we explore selected examples where biochemical individuality might significantly impact countermeasure development. These include gene and small molecule variants associated with: (1) metabolism of therapeutic drugs used in space; (2) one carbon metabolism and DNA stability; (3) iron metabolism, oxidative stress and damage, and DNA stability; and (4) essential input (Mg and Zn) effects on DNA repair. From these examples, we advance the case that widespread Omics profiling should serve as the foundation for aerospace medicine and research, explore methodological considerations to advance the field, and suggest why personalized medicine may become the standard of care for humans in space.

  10. From the Bench to the Bedside: The Role of Semantic Web and Translational Medicine for Enabling the Next Generation Healthcare Enterprise

    NASA Astrophysics Data System (ADS)

    Kashyap, Vipul

    The success of new innovations and technologies are very often disruptive in nature. At the same time, they enable novel next generation infrastructures and solutions. These solutions introduce great efficiencies in the form of efficient processes and the ability to create, organize, share and manage knowledge effectively; and the same time provide crucial enablers for proposing and realizing new visions. In this paper, we propose a new vision of the next generation healthcare enterprise and discuss how Translational Medicine, which aims to improve communication between the basic and clinical sciences, is a key requirement for achieving this vision. This will lead therapeutic insights may be derived from new scientific ideas - and vice versa. Translation research goes from bench to bedside, where theories emerging from preclinical experimentation are tested on disease-affected human subjects, and from bedside to bench, where information obtained from preliminary human experimentation can be used to refine our understanding of the biological principles underpinning the heterogeneity of human disease and polymorphism(s). Informatics and semantic technologies in particular, has a big role to play in making this a reality. We identify critical requirements, viz., data integration, clinical decision support and knowledge maintenance and provenance; and illustrate semantics-based solutions wrt example scenarios and use cases.

  11. Enabling individualized therapy through nanotechnology

    PubMed Central

    Sakamoto, Jason H.; van de Ven, Anne L.; Godin, Biana; Blanco, Elvin; Serda, Rita E.; Grattoni, Alessandro; Ziemys, Arturas; Bouamrani, Ali; Hu, Tony; Ranganathan, Shivakumar I.; De Rosa, Enrica; Martinez, Jonathan O.; Smid, Christine A.; Buchanan, Rachel M.; Lee, Sei-Young; Srinivasan, Srimeenakshi; Landry, Matthew; Meyn, Anne; Tasciotti, Ennio; Liu, Xuewu; Decuzzi, Paolo; Ferrari, Mauro

    2010-01-01

    Individualized medicine is the healthcare strategy that rebukes the idiomatic dogma of ‘losing sight of the forest for the trees’. We are entering a new era of healthcare where it is no longer acceptable to develop and market a drug that is effective for only 80% of the patient population. The emergence of “-omic” technologies (e.g. genomics, transcriptomics, proteomics, metabolomics) and advances in systems biology are magnifying the deficiencies of standardized therapy, which often provide little treatment latitude for accommodating patient physiologic idiosyncrasies. A personalized approach to medicine is not a novel concept. Ever since the scientific community began unraveling the mysteries of the genome, the promise of discarding generic treatment regimens in favor of patient-specific therapies became more feasible and realistic. One of the major scientific impediments of this movement towards personalized medicine has been the need for technological enablement. Nanotechnology is projected to play a critical role in patient-specific therapy; however, this transition will depend heavily upon the evolutionary development of a systems biology approach to clinical medicine based upon “-omic” technology analysis and integration. This manuscript provides a forward looking assessment of the promise of nanomedicine as it pertains to individualized medicine and establishes a technology “snapshot” of the current state of nano-based products over a vast array of clinical indications and range of patient specificity. Other issues such as market driven hurdles and regulatory compliance reform are anticipated to “self-correct” in accordance to scientific advancement and healthcare demand. These peripheral, non-scientific concerns are not addressed at length in this manuscript; however they do exist, and their impact to the paradigm shifting healthcare transformation towards individualized medicine will be critical for its success. PMID:20045055

  12. Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all tumor types.

    PubMed

    Lebofsky, Ronald; Decraene, Charles; Bernard, Virginie; Kamal, Maud; Blin, Anthony; Leroy, Quentin; Rio Frio, Thomas; Pierron, Gaëlle; Callens, Céline; Bieche, Ivan; Saliou, Adrien; Madic, Jordan; Rouleau, Etienne; Bidard, François-Clément; Lantz, Olivier; Stern, Marc-Henri; Le Tourneau, Christophe; Pierga, Jean-Yves

    2015-04-01

    Cell-free tumor DNA (ctDNA) has the potential to enable non-invasive diagnostic tests for personalized medicine in providing similar molecular information as that derived from invasive tumor biopsies. The histology-independent phase II SHIVA trial matches patients with targeted therapeutics based on previous screening of multiple somatic mutations using metastatic biopsies. To evaluate the utility of ctDNA in this trial, as an ancillary study we performed de novo detection of somatic mutations using plasma DNA compared to metastasis biopsies in 34 patients covering 18 different tumor types, scanning 46 genes and more than 6800 COSMIC mutations with a multiplexed next-generation sequencing panel. In 27 patients, 28 of 29 mutations identified in metastasis biopsies (97%) were detected in matched ctDNA. Among these 27 patients, one additional mutation was found in ctDNA only. In the seven other patients, mutation detection from metastasis biopsy failed due to inadequate biopsy material, but was successful in all plasma DNA samples providing three more potential actionable mutations. These results suggest that ctDNA analysis is a potential alternative and/or replacement to analyses using costly, harmful and lengthy tissue biopsies of metastasis, irrespective of cancer type and metastatic site, for multiplexed mutation detection in selecting personalized therapies based on the patient's tumor genetic content.

  13. Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine.

    PubMed

    Weitzel, Jeffrey N; Blazer, Kathleen R; MacDonald, Deborah J; Culver, Julie O; Offit, Kenneth

    2011-01-01

    Scientific and technologic advances are revolutionizing our approach to genetic cancer risk assessment, cancer screening and prevention, and targeted therapy, fulfilling the promise of personalized medicine. In this monograph, we review the evolution of scientific discovery in cancer genetics and genomics, and describe current approaches, benefits, and barriers to the translation of this information to the practice of preventive medicine. Summaries of known hereditary cancer syndromes and highly penetrant genes are provided and contrasted with recently discovered genomic variants associated with modest increases in cancer risk. We describe the scope of knowledge, tools, and expertise required for the translation of complex genetic and genomic test information into clinical practice. The challenges of genomic counseling include the need for genetics and genomics professional education and multidisciplinary team training, the need for evidence-based information regarding the clinical utility of testing for genomic variants, the potential dangers posed by premature marketing of first-generation genomic profiles, and the need for new clinical models to improve access to and responsible communication of complex disease risk information. We conclude that given the experiences and lessons learned in the genetics era, the multidisciplinary model of genetic cancer risk assessment and management will serve as a solid foundation to support the integration of personalized genomic information into the practice of cancer medicine.

  14. Genetics, Genomics and Cancer Risk Assessment: State of the art and future directions in the era of personalized medicine

    PubMed Central

    Weitzel, Jeffrey N.; Blazer, Kathleen R.; MacDonald, Deborah J.; Culver, Julie O.; Offit, Kenneth

    2012-01-01

    Scientific and technologic advances are revolutionizing our approach to genetic cancer risk assessment, cancer screening and prevention, and targeted therapy, fulfilling the promise of personalized medicine. In this monograph we review the evolution of scientific discovery in cancer genetics and genomics, and describe current approaches, benefits and barriers to the translation of this information to the practice of preventive medicine. Summaries of known hereditary cancer syndromes and highly penetrant genes are provided and contrasted with recently-discovered genomic variants associated with modest increases in cancer risk. We describe the scope of knowledge, tools, and expertise required for the translation of complex genetic and genomic test information into clinical practice. The challenges of genomic counseling include the need for genetics and genomics professional education and multidisciplinary team training, the need for evidence-based information regarding the clinical utility of testing for genomic variants, the potential dangers posed by premature marketing of first-generation genomic profiles, and the need for new clinical models to improve access to and responsible communication of complex disease-risk information. We conclude that given the experiences and lessons learned in the genetics era, the multidisciplinary model of genetic cancer risk assessment and management will serve as a solid foundation to support the integration of personalized genomic information into the practice of cancer medicine. PMID:21858794

  15. Public health concerns for anti-obesity medicines imported for personal use through the internet: a cross-sectional study

    PubMed Central

    Tanimoto, Tsuyoshi; Nakanishi, Yoko; Yoshida, Naoko; Tsuboi, Hirohito; Kimura, Kazuko

    2012-01-01

    Objective To explore the circulation of anti-obesity medicines via the internet and their quality. Design Cross-sectional study. Setting Internet pharmacies and pharmaceutical suppliers accessible from Japan. Participants Anti-obesity medicines were purchased using relevant keywords on Japanese Google search engine. Blogs and advertisement-only sites were excluded. Primary and secondary outcome measures The authenticity of the samples was investigated in collaboration with the manufacturers of the samples and medicine regulatory authorities. Quality of the samples was assessed by pharmacopoeial analyses using high-performance liquid chromatography. Results 82 samples were purchased from 36 internet sites. Approximately half of the sites did not mention a physical address, and 45% of the samples did not contain a package insert. A variety of custom declarations were made for the shipments of the samples: personal health items, supplement, medicines, general merchandise, tea and others. Among 82 samples, 52 samples were analysed to check their pharmacopoeial quality. Authenticity responses were received from only five of 20 manufacturing companies. According to the pharmacopoeial analyses and authenticity investigation, three of the samples were identified as counterfeits and did not contain any active ingredients. Two of these samples were confirmed as counterfeits by the manufacturer of the authentic products. The manufacturer of the other sample did not respond to our request for an authenticity check even after several communication attempts. These counterfeit cases have been reported at the rapid alert system of Western Pacific Region of the WHO. Conclusions Many counterfeit and unapproved anti-obesity medicines may be easily bypassing regulatory checks during shipping and are widely circulated through the internet. Regulatory authorities should take measures to prevent these medicines from entering countries to safeguard their citizens. PMID:22581794

  16. From Systems Understanding to Personalized Medicine: Lessons and Recommendations Based on a Multidisciplinary and Translational Analysis of COPD.

    PubMed

    Roca, Josep; Cano, Isaac; Gomez-Cabrero, David; Tegnér, Jesper

    2016-01-01

    Systems medicine, using and adapting methods and approaches as developed within systems biology, promises to be essential in ongoing efforts of realizing and implementing personalized medicine in clinical practice and research. Here we review and critically assess these opportunities and challenges using our work on COPD as a case study. We find that there are significant unresolved biomedical challenges in how to unravel complex multifactorial components in disease initiation and progression producing different clinical phenotypes. Yet, while such a systems understanding of COPD is necessary, there are other auxiliary challenges that need to be addressed in concert with a systems analysis of COPD. These include information and communication technology (ICT)-related issues such as data harmonization, systematic handling of knowledge, computational modeling, and importantly their translation and support of clinical practice. For example, clinical decision-support systems need a seamless integration with new models and knowledge as systems analysis of COPD continues to develop. Our experience with clinical implementation of systems medicine targeting COPD highlights the need for a change of management including design of appropriate business models and adoption of ICT providing and supporting organizational interoperability among professional teams across healthcare tiers, working around the patient. In conclusion, in our hands the scope and efforts of systems medicine need to concurrently consider these aspects of clinical implementation, which inherently drives the selection of the most relevant and urgent issues and methods that need further development in a systems analysis of disease.

  17. Personal networks: a tool for gaining insight into the transmission of knowledge about food and medicinal plants among Tyrolean (Austrian) migrants in Australia, Brazil and Peru

    PubMed Central

    2014-01-01

    Background Investigations into knowledge about food and medicinal plants in a certain geographic area or within a specific group are an important element of ethnobotanical research. This knowledge is context specific and dynamic due to changing ecological, social and economic circumstances. Migration processes affect food habits and the knowledge and use of medicinal plants as a result of adaptations that have to be made to new surroundings and changing environments. This study analyses and compares the different dynamics in the transmission of knowledge about food and medicinal plants among Tyrolean migrants in Australia, Brazil and Peru. Methods A social network approach was used to collect data on personal networks of knowledge about food and medicinal plants among Tyroleans who have migrated to Australia, Brazil and Peru and their descendants. A statistical analysis of the personal network maps and a qualitative analysis of the narratives were combined to provide insight into the process of transmitting knowledge about food and medicinal plants. Results 56 personal networks were identified in all (food: 30; medicinal plants: 26) across all the field sites studied here. In both sets of networks, the main source of knowledge is individual people (food: 71%; medicinal plants: 68%). The other sources mentioned are print and audiovisual media, organisations and institutions. Personal networks of food knowledge are larger than personal networks of medicinal plant knowledge in all areas of investigation. Relatives play a major role as transmitters of knowledge in both domains. Conclusions Human sources, especially relatives, play an important role in knowledge transmission in both domains. Reference was made to other sources as well, such as books, television, the internet, schools and restaurants. By taking a personal network approach, this study reveals the mode of transmission of knowledge about food and medicinal plants within a migrational context. PMID:24398225

  18. [Tropical medicine/tropical dermatology training in Tanzania and Ghana: Personal experience and selected case reports].

    PubMed

    Völker, K

    2015-05-01

    As a consultant for dermatology with special interested in tropical diseases, I accepted my employers offer (German Armed Forces) to start my training in tropical medicine and tropical dermatology in Africa. The dermatological part of the training was completed at the Regional Dermatology Training Centre (RDTC) in Moshi, Tanzania. This was followed by tropical medicine training at the Presbyterian Hospital in Agogo, Ghana. In this article, I report on my experiences in Africa and present selected case reports.

  19. High-order feature-based mixture models of classification learning predict individual learning curves and enable personalized teaching.

    PubMed

    Cohen, Yarden; Schneidman, Elad

    2013-01-08

    Pattern classification learning tasks are commonly used to explore learning strategies in human subjects. The universal and individual traits of learning such tasks reflect our cognitive abilities and have been of interest both psychophysically and clinically. From a computational perspective, these tasks are hard, because the number of patterns and rules one could consider even in simple cases is exponentially large. Thus, when we learn to classify we must use simplifying assumptions and generalize. Studies of human behavior in probabilistic learning tasks have focused on rules in which pattern cues are independent, and also described individual behavior in terms of simple, single-cue, feature-based models. Here, we conducted psychophysical experiments in which people learned to classify binary sequences according to deterministic rules of different complexity, including high-order, multicue-dependent rules. We show that human performance on such tasks is very diverse, but that a class of reinforcement learning-like models that use a mixture of features captures individual learning behavior surprisingly well. These models reflect the important role of subjects' priors, and their reliance on high-order features even when learning a low-order rule. Further, we show that these models predict future individual answers to a high degree of accuracy. We then use these models to build personally optimized teaching sessions and boost learning.

  20. High-order feature-based mixture models of classification learning predict individual learning curves and enable personalized teaching

    PubMed Central

    Cohen, Yarden; Schneidman, Elad

    2013-01-01

    Pattern classification learning tasks are commonly used to explore learning strategies in human subjects. The universal and individual traits of learning such tasks reflect our cognitive abilities and have been of interest both psychophysically and clinically. From a computational perspective, these tasks are hard, because the number of patterns and rules one could consider even in simple cases is exponentially large. Thus, when we learn to classify we must use simplifying assumptions and generalize. Studies of human behavior in probabilistic learning tasks have focused on rules in which pattern cues are independent, and also described individual behavior in terms of simple, single-cue, feature-based models. Here, we conducted psychophysical experiments in which people learned to classify binary sequences according to deterministic rules of different complexity, including high-order, multicue-dependent rules. We show that human performance on such tasks is very diverse, but that a class of reinforcement learning-like models that use a mixture of features captures individual learning behavior surprisingly well. These models reflect the important role of subjects’ priors, and their reliance on high-order features even when learning a low-order rule. Further, we show that these models predict future individual answers to a high degree of accuracy. We then use these models to build personally optimized teaching sessions and boost learning. PMID:23269833

  1. Artificial intelligence in medicine and cardiac imaging: harnessing big data and advanced computing to provide personalized medical diagnosis and treatment.

    PubMed

    Dilsizian, Steven E; Siegel, Eliot L

    2014-01-01

    Although advances in information technology in the past decade have come in quantum leaps in nearly every aspect of our lives, they seem to be coming at a slower pace in the field of medicine. However, the implementation of electronic health records (EHR) in hospitals is increasing rapidly, accelerated by the meaningful use initiatives associated with the Center for Medicare & Medicaid Services EHR Incentive Programs. The transition to electronic medical records and availability of patient data has been associated with increases in the volume and complexity of patient information, as well as an increase in medical alerts, with resulting "alert fatigue" and increased expectations for rapid and accurate diagnosis and treatment. Unfortunately, these increased demands on health care providers create greater risk for diagnostic and therapeutic errors. In the near future, artificial intelligence (AI)/machine learning will likely assist physicians with differential diagnosis of disease, treatment options suggestions, and recommendations, and, in the case of medical imaging, with cues in image interpretation. Mining and advanced analysis of "big data" in health care provide the potential not only to perform "in silico" research but also to provide "real time" diagnostic and (potentially) therapeutic recommendations based on empirical data. "On demand" access to high-performance computing and large health care databases will support and sustain our ability to achieve personalized medicine. The IBM Jeopardy! Challenge, which pitted the best all-time human players against the Watson computer, captured the imagination of millions of people across the world and demonstrated the potential to apply AI approaches to a wide variety of subject matter, including medicine. The combination of AI, big data, and massively parallel computing offers the potential to create a revolutionary way of practicing evidence-based, personalized medicine.

  2. Magnetic bead-liposome hybrids enable sensitive and portable detection of DNA methyltransferase activity using personal glucose meter.

    PubMed

    Zhang, Youna; Xue, Qingwang; Liu, Jifeng; Wang, Huaisheng

    2017-01-15

    DNA methyltransferase (MTase) plays a critical role in maintaining genome methylation patterns, which has a close relationship to cancer and bacterial diseases. This encouraged the need to develop highly sensitive, simple, and robust assays for DNA MTase detection and inhibitor screening. Herein, a simple, sensitive, and specific DNA MTase activity assay was developed based on magnetic beads-liposome hybrids combined with personal glucose meter (PGM) for quantitative detection of DNA MTase and inhibitor screening. First, a magnetic beads-liposome hybrid probe is designed by the hybridization of p1DNA-functionalized magnetic bead with p2DNA-functionalized glucoamylase-encapsulated liposome (GEL). It integrates target recognition, magnetic separation and signal amplification within one multifunctional design. Then, in the presence of Dam MTase, the hybrids probe was methylated, and cleaved by methylation-sensitive restriction endonuclease Dpn I, making liposome separated from magnetic bead by magnetic separation. Finally, the separated liposome was decomposed, liberating the encapsulated glucoamylase to catalyze the hydrolysis of the signal substrate amylose with multiple turnovers, producing a large amount of glucose for quantitative readout by the PGM. In the proposed assay, the magnetic beads-liposome hybrids offered excellent sensitivity due to primary amplification via releasing numerous glucoamylase from a liposome followed by a secondary enzymatic amplification. The use of portable quantitative device PGM bypasses the requirement of complicated instruments and sophisticated operations, making the method simple and feasible for on-site detection. Moreover, the proposed assay was successfully applied in complex biological matrix and screen suitable inhibitor drugs for DAM for disease(s) treatment. The results reveal that the approach provides a simple, sensitive, and robust platform for DNA MTases detection and screening potential drugs in medical research and

  3. Update on the Treatment of Metastatic Squamous Non-Small Cell Lung Cancer in New Era of Personalized Medicine

    PubMed Central

    Soldera, Sara Victoria; Leighl, Natasha B.

    2017-01-01

    Despite advances in molecular characterization and lung cancer treatment in recent years, treatment options for patients diagnosed with squamous cell carcinoma of the lung (SCC) remain limited as actionable mutations are rarely detected in this subtype. This article reviews potential molecular targets and associated novel agents for the treatment of advanced SCC in the era of personalized medicine. Elements of various pathways including epidermal growth factor receptor, PI3KCA, fibroblast growth factor receptor, retinoblastoma, cyclin-dependent kinases, discoidin domain receptor tyrosine kinase 2, and mesenchymal-to-epithelial transition may play pivotal roles in the development of SCC and are under investigation for drug development.

  4. Knowledge, Attitudes, and Personal Use of Complementary and Alternative Medicine among Occupational Therapy Educators in the United States.

    PubMed

    Bradshaw, Michelle L

    2016-01-01

    The purpose of this study was to establish a baseline description of American occupational therapy educators' knowledge, attitudes, and personal use of complementary and alternative medicine (CAM) as a first step in exploring the larger issue of future occupational therapy practitioners' preparedness for meeting clients' occupational needs in today's evolving healthcare environment. Results of this cross-sectional survey highlighted limitations of occupational therapy educators' knowledge of common CAM concepts and therapies across all demographic variables, varying attitudes towards CAM in general and its inclusion in occupational therapy education, and personal use of common CAM therapies. Without increased occupational therapy educator knowledge about CAM and engagement in the current healthcare practices, occupational therapy practitioners are at risk for having a limited role in integrative healthcare.

  5. Clinical consultation, a personal perspective: components of a successful integrative medicine clinical consultation.

    PubMed

    Frenkel, Moshe

    2008-01-01

    Integrative medicine is becoming an increasingly popular and visible component in oncology care. Thus, the question arises: How can clinicians facilitate, encourage, and integrate the use of complementary and integrative medicines (CIMs) in patients with cancer? The integrative medicine consultation is not easy and involves much more than simply providing reliable information about the proper use of CIM therapies to alleviate symptoms. Some key factors are necessary to allow for a successful consultation for patients and their families and caregivers: physicians must have extensive knowledge of CIM and of cancer care; they must use a sensitive approach in communication with the patient that relies on effective communication skills and experience in listening; and they must have the ability to convey empathy and compassion.

  6. Physician personality types in physical medicine and rehabilitation as measured by the Myers-Briggs Type Indicator.

    PubMed

    Sliwa, J A; Shade-Zeldow, Y

    1994-01-01

    Personality is one variable that correlates with specialty selection and practice type. To test our hypothesis that there has been a change in the personality type of those entering Physical Medicine and Rehabilitation (PM&R) and to identify the academic potential of those in rehabilitation, we invited all residents and graduates of our training program to participate in a study of personality types within PM&R by completing a Myers-Briggs Type Indicator (MBTI). Thirty residents and 48 graduates completed the questionnaire. A wide range of personality types were represented in our sample. The most common types are shared by a number of other people-oriented, primary care specialties. There was a statistically significant difference between residents and graduates on two of the four MBTI indexes, with graduates more introverted (P < 0.05) and judging (P < 0.001) than the present residents. Intuition, previously correlated with research and academic practice, was the dominant process for the majority of graduates and residents. This would confirm, according to type theory, the academic potential of both graduates and residents in our training program.

  7. Traditional, complementary and alternative medical systems and their contribution to personalisation, prediction and prevention in medicine—person-centred medicine

    PubMed Central

    2012-01-01

    Traditional, complementary and alternative medical (TCAM) systems contribute to the foundation of person-centred medicine (PCM), an epistemological orientation for medical science which places the person as a physical, psychological and spiritual entity at the centre of health care and of the therapeutic process. PCM wishes to broaden the bio-molecular reductionistic approach of medical science towards an integration that allows people, doctors, nurses, health-care professionals and patients to become the real protagonists of the health-care scene. The doctor or caregiver needs to act out of empathy to meet the unique value of each human being, which unfolds over the course of a lifetime from conception to natural death. Knowledge of the human being should not be instrumental to economic or political interests, ideology, theories or religious dogma. Research needs to be broadened with methodological tools to investigate person-centred medical interventions. Salutogenesis is a fundamental principle of PCM, promoting health and preventing illness by strengthening the individual's self-healing abilities. TCAM systems also give tools to predict the insurgence of illness and treat it before the appearance of overt organic disease. A task of PCM is to educate people to take better care of their physical, psychological and spiritual health. Health-care education needs to be broadened to give doctors and health-care workers of the future the tools to act in innovative and highly differentiated ways, always guided by deep respect for individual autonomy, personal culture, religion and beliefs. PMID:23126628

  8. Timothy Ley, M.D., Advocates for Personalized Medicine in AML - TCGA

    Cancer.gov

    Oncologist Dr. Timothy Ley talks about how repurposing of existing drugs based on better understanding of the genetic basis of acute myeloid leukemia (AML) can help patients receive personalized care.

  9. Personalized Medicine: Review and Perspectives of Promising Baseline EEG Biomarkers in Major Depressive Disorder and Attention Deficit Hyperactivity Disorder.

    PubMed

    Olbrich, Sebastian; van Dinteren, Rik; Arns, Martijn

    2015-01-01

    Personalized medicine in psychiatry is in need of biomarkers that resemble central nervous system function at the level of neuronal activity. Electroencephalography (EEG) during sleep or resting-state conditions and event-related potentials (ERPs) have not only been used to discriminate patients from healthy subjects, but also for the prediction of treatment outcome in various psychiatric diseases, yielding information about tailored therapy approaches for an individual. This review focuses on baseline EEG markers for two psychiatric conditions, namely major depressive disorder and attention deficit hyperactivity disorder. It covers potential biomarkers from EEG sleep research and vigilance regulation, paroxysmal EEG patterns and epileptiform discharges, quantitative EEG features within the EEG main frequency bands, connectivity markers and ERP components that might help to identify favourable treatment outcome. Further, the various markers are discussed in the context of their potential clinical value and as research domain criteria, before giving an outline for future studies that are needed to pave the way to an electrophysiological biomarker-based personalized medicine.

  10. The Social Demand for a Medicine Focused on the Person: The Contribution of CAM to Healthcare and Healthgenesis

    PubMed Central

    2007-01-01

    The Non Conventional Medicines have a greater social impact and the demand for such treatments of more than 10 million Italian citizens (male and female) of all ages and social classes and of thousands of Italian families reveals an interest proving that there is a trend reversal, involving also other sectors of the medical and scientific world, which shifts the focus from the symptom to an idea of more general and comprehensive well-being of the person. Over the last few years the scientific debate on Non Conventional Medicines and their integration with the academic or dominant medicine in our western society has favored and legitimated an increase in the demand and has activated a cultural transformation process involving the life styles. The focus is therefore shifted to the self-healing capacities, to the reawakening of the individual potentialities, which support and amplify the benefits of the treatments and the citizens start pretending to be accurately informed in order to choose freely their own health program. PMID:18227933

  11. Sustainable medical research by effective and comprehensive medical skills: overcoming the frontiers by predictive, preventive and personalized medicine

    PubMed Central

    2014-01-01

    Background Clinical research and practice require affordable objectives, sustainable tools, rewarding training strategies and meaningful collaboration. Method Our unit delivers courses on project design and management promoting ideas, useful skills, teaching and exploring implementation of networks and existing collaborations. We investigated the effectiveness of a sustainable approach of comprehensive diagnosis and care and its usefulness within concrete models of research project teaching methodology. Results The model of predictive, preventive and personalized medicine (PPPM) of adolescent hypertension, developed since 1976 and still active, was displayed. This is a paradigm of comprehensive PPPM aimed at the management of a recognized, but actually neglected, societal and clinical problem. The second model was addressed to the analysis of performance of an outpatient diagnostic and therapy unit and its relationship with the emergency department. Part of the patients, 4,057 cancer patients presenting at the emergency care, were addressed to the outpatient diagnostic and therapy unit for further assessment, treatment and follow-up. The stay in DH was 6.3 ± 2.1 non-consecutive days, with shortage of costs, vs. in-hospital stays. Research planning courses, based on these models, ensued in an increase of competitive project submission and successful funding. Discussion Active promotion of interdisciplinary knowledge and skills is warranted. Misleading messages and information are detrimental not only to healthy and sick people but, equally, to all health professionals: efforts for basing on evidence by research any statement are needed. The actual pre-requisite of personalized medicine is the coherent and articulated promotion of the professional quality of staff. Health professionals should and can be skilled in sustainable non-invasive diagnostic procedures, in non-pharmacological intervention, in translational research (from epidemiology to personalized

  12. Enabling responsible public genomics.

    PubMed

    Conley, John M; Doerr, Adam K; Vorhaus, Daniel B

    2010-01-01

    As scientific understandings of genetics advance, researchers require increasingly rich datasets that combine genomic data from large numbers of individuals with medical and other personal information. Linking individuals' genetic data and personal information precludes anonymity and produces medically significant information--a result not contemplated by the established legal and ethical conventions governing human genomic research. To pursue the next generation of human genomic research and commerce in a responsible fashion, scientists, lawyers, and regulators must address substantial new issues, including researchers' duties with respect to clinically significant data, the challenges to privacy presented by genomic data, the boundary between genomic research and commerce, and the practice of medicine. This Article presents a new model for understanding and addressing these new challenges--a "public genomics" premised on the idea that ethically, legally, and socially responsible genomics research requires openness, not privacy, as its organizing principle. Responsible public genomics combines the data contributed by informed and fully consenting information altruists and the research potential of rich datasets in a genomic commons that is freely and globally available. This Article examines the risks and benefits of this public genomics model in the context of an ambitious genetic research project currently under way--the Personal Genome Project. This Article also (i) demonstrates that large-scale genomic projects are desirable, (ii) evaluates the risks and challenges presented by public genomics research, and (iii) determines that the current legal and regulatory regimes restrict beneficial and responsible scientific inquiry while failing to adequately protect participants. The Article concludes by proposing a modified normative and legal framework that embraces and enables a future of responsible public genomics.

  13. Personalized Kampo Medicine Facilitated Both Cytotoxic T Lymphocyte Response and Clinical Benefits Induced by Personalized Peptide Vaccination for Advanced Esophageal Cancer

    PubMed Central

    Yutani, Shigeru; Shichijo, Shigeki; Sakamoto, Shinjiro; Naito, Masayasu; Okuda, Koji; Morita, Michi; Yamaguchi, Rin; Itoh, Kyogo

    2016-01-01

    We retrospectively evaluated if personalized Kampo medicine (PKM) could facilitate CTL responses and clinical benefits induced by personalized peptide vaccination (PPV), in which HLA-matched vaccines were selected and administered based on the preexisting host immunity, for advanced esophageal cancer (aEC) patients. Among 34 aEC patients entered in the clinical study, 23 patients received PKM and PPV without (n = 12) or with chemotherapy (n = 11), while the remaining 11 patients did not receive PKM but received PPV without (n = 6) or with chemotherapy (n = 5), respectively. Incidence of adverse events was significantly lower or higher in PKM and PPV arm (n = 23) or PPV and chemotherapy arm (n = 16) as compared to that of the counter arm (n = 11 or 18), respectively. Postvaccination PBMCs from the patients undergoing PKM and PPV showed significantly higher CTL responses as compared to the counter arm. The median progression-free survival (PFS) or median survival time (MST) of 34 patients was 2.9 or 7.6 months, respectively. The combination therapy in PPV and PKM arm, but not that in PPV and chemotherapy arm, significantly (P = 0.02) prolonged MST. These results could warrant a next step of prospective clinical study of PKM and PPV for aEC patients. PMID:27703488

  14. A Development of a System Enables Character Input and PC Operation via Voice for a Physically Disabled Person with a Speech Impediment

    NASA Astrophysics Data System (ADS)

    Tanioka, Toshimasa; Egashira, Hiroyuki; Takata, Mayumi; Okazaki, Yasuhisa; Watanabe, Kenzi; Kondo, Hiroki

    We have designed and implemented a PC operation support system for a physically disabled person with a speech impediment via voice. Voice operation is an effective method for a physically disabled person with involuntary movement of the limbs and the head. We have applied a commercial speech recognition engine to develop our system for practical purposes. Adoption of a commercial engine reduces development cost and will contribute to make our system useful to another speech impediment people. We have customized commercial speech recognition engine so that it can recognize the utterance of a person with a speech impediment. We have restricted the words that the recognition engine recognizes and separated a target words from similar words in pronunciation to avoid misrecognition. Huge number of words registered in commercial speech recognition engines cause frequent misrecognition for speech impediments' utterance, because their utterance is not clear and unstable. We have solved this problem by narrowing the choice of input down in a small number and also by registering their ambiguous pronunciations in addition to the original ones. To realize all character inputs and all PC operation with a small number of words, we have designed multiple input modes with categorized dictionaries and have introduced two-step input in each mode except numeral input to enable correct operation with small number of words. The system we have developed is in practical level. The first author of this paper is physically disabled with a speech impediment. He has been able not only character input into PC but also to operate Windows system smoothly by using this system. He uses this system in his daily life. This paper is written by him with this system. At present, the speech recognition is customized to him. It is, however, possible to customize for other users by changing words and registering new pronunciation according to each user's utterance.

  15. Personalized Medicine in Allergic Asthma: At the Crossroads of Allergen Immunotherapy and “Biologicals”

    PubMed Central

    Fritzsching, Benedikt

    2017-01-01

    Major allergic disease can be viewed as clinical syndromes rather than discrete disease entities. Emerging evidence indicates that allergic asthma includes several disease phenotypes. Immunological deviation toward high T helper cell type 2 cytokine levels has been demonstrated for a subgroup of pediatric asthma patients, and now, several novel monoclonal antibodies have been approved for treatment of this subgroup as a stratified approach of “personalized” medicine in allergy. Introduction of component-based IgE testing before allergen immunotherapy (AIT), i.e., testing for IgE cross-reactivity before initiation of AIT, has also brought stratified medicine into allergy therapy. Improved responder criteria, which identify treatment-responders previous to therapy, might foster this stratification and even individualized AIT might have an impact for tailor-made therapy in the future. Furthermore, combining antibody-based treatment with AIT could help to establish more rapid AIT protocols even for allergens with a high risk of anaphylactic reactions. Efforts to advance such “personalized” medicine in pediatric allergy might be challenged by several issues including high costs for the health-care system, increasing complexity of allergy therapy, the need for physician allergy expertise, and furthermore ethical considerations and data safety issues. PMID:28261576

  16. 3D Culture as a Clinically Relevant Model for Personalized Medicine.

    PubMed

    Fong, Eliza Li Shan; Toh, Tan Boon; Yu, Hanry; Chow, Edward Kai-Hua

    2017-03-01

    Advances in understanding many of the fundamental mechanisms of cancer progression have led to the development of molecular targeted therapies. While molecular targeted therapeutics continue to improve the outcome for cancer patients, tumor heterogeneity among patients, as well as intratumoral heterogeneity, limits the efficacy of these drugs to specific patient subtypes, as well as contributes to relapse. Thus, there is a need for a more personalized approach toward drug development and diagnosis that takes into account the diversity of cancer patients, as well as the complex milieu of tumor cells within a single patient. Three-dimensional (3D) culture systems paired with patient-derived xenografts or patient-derived organoids may provide a more clinically relevant system to address issues presented by personalized or precision medical approaches. In this review, we cover the current methods available for applying 3D culture systems toward personalized cancer research and drug development, as well as key challenges that must be addressed in order to fully realize the potential of 3D patient-derived culture systems for cancer drug development. Greater implementation of 3D patient-derived culture systems in the cancer research field should accelerate the development of truly personalized medical therapies for cancer patients.

  17. Can Self-Declared Personal Values Be Used to Identify Those with Family Medicine Career Aspirations?

    ERIC Educational Resources Information Center

    Beach, Renee A.; Eva, Kevin W.; Reiter, Harold I.

    2008-01-01

    Purpose: Self-declaration of personal values has been suggested as a means of identifying students with greater predilection for future primary care careers. While statistically significant differences have been demonstrated, absolute differences between those interested in primary care and those interested in specialist careers tend to be small.…

  18. Towards Personalized Medicine Based on Platelet Function Testing for Stent Thrombosis Patients

    PubMed Central

    Godschalk, Thea Cornelia; Hackeng, Christian Marcus; ten Berg, Jurriën Maria

    2012-01-01

    Stent thrombosis (ST) is a severe and feared complication of coronary stenting. Patients who have suffered from ST are usually treated according to the “one-size-fits-all” dosing regimen of aspirin and clopidogrel. Many ST patients show high on-treatment platelet reactivity (HPR) despite this antiplatelet therapy (APT). It has been shown that HPR is a risk factor for major adverse cardiac events. Therefore, ST patients with HPR are at a high risk for recurrent atherothrombotic events. New insights into the variable response to clopidogrel and the advent of stronger P2Y12 inhibitors prasugrel and ticagrelor have changed the attention from a fixed APT treatment strategy towards “personalized APT strategies.” Strategies can be based on platelet function testing, which gives insight into the overall response of a patient to APT. At our outpatient ST clinic, we practice personalized APT based on platelet function testing to guide the cardiologist to a presumed optimal antiplatelet treatment of ST patients. Beside results of platelet function testing, comedication, clinical characteristics, and genetics have to be considered to decide on personalized APT. Ongoing studies have yet to reveal the optimal personalized APT strategy for cardiologists to prevent their patients from atherothrombotic and bleeding events. PMID:23320159

  19. The human person at the heart of medicine: Reflections of a physician with lymphoma

    PubMed Central

    Manning, Dennis Michael

    2016-01-01

    The author, a physician living with lymphoma for five years, relates the details of the lived experience. He reflects on the impact of his illness on aspects of his life: personal health, professional work as a physician, and his journey in faith. PMID:27833178

  20. The attractions of medicine: the generic motivations of medical school applicants in relation to demography, personality and achievement

    PubMed Central

    McManus, IC; Livingston, G; Katona, Cornelius

    2006-01-01

    Background The motivational and other factors used by medical students in making their career choices for specific medical specialities have been looked at in a number of studies in the literature. There are however few studies that assess the generic factors which make medicine itself of interest to medical students and to potential medical students. This study describes a novel questionnaire that assesses the interests and attractions of different aspects of medical practice in a varied range of medical scenarios, and relates them to demographic, academic, personality and learning style measures in a large group of individuals considering applying to medical school. Methods A questionnaire study was conducted among those attending Medlink, a two-day conference for individuals considering applying to medical school for a career in medicine. The main outcome measure was the Medical Situations Questionnaire, in which individuals ranked the attraction of three different aspects of medical practise in each of nine detailed, realistic medical scenarios in a wide range of medical specialities. As well as requiring clear choices, the questionnaire was also designed so that all of the possible answers were attractive and positive, thereby helping to eliminate social demand characteristics. Factor analysis of the responses found four generic motivational dimensions, which we labelled Indispensability, Helping People, Respect and Science. Background factors assessed included sex, ethnicity, class, medical parents, GCSE academic achievement, the 'Big Five' personality factors, empathy, learning styles, and a social desirability scale. Results 2867 individuals, broadly representative of applicants to medical schools, completed the questionnaire. The four generic motivational factors correlated with a range of background factors. These correlations were explored by multiple regression, and by path analysis, using LISREL to assess direct and indirect effects upon the factors

  1. Psychosomatic approach is the new medicine tailored for patient personality with a focus on ethics, economy, and quality.

    PubMed

    Fassino, S

    2010-09-01

    influence the results of treatment projects. Because all these aspects impact upon illness duration and quality of life, affecting both the individual concerned and his or her family, the economic consequences of this psychosomatic approach are important in both general and specialist medicine. Medicine is becoming, and will become even more in the future, an integrated science; human illness and the maintenance of good health may be better understood if all medical disciplines are considered as a whole. The domain of psychosomatic medicine has now extended to coincide with that of medical practice. There is increasing evidence, not only in psychiatry, but in all medical fields, that care of the mental well-being of a person is essential for effective care of the body. Not only mens sana in corpore sano, but also corpus sanus in mente sana.

  2. Taking Personalized Medicine Seriously: Biomarker Approaches in Phase IIb/III Studies in Major Depression and Schizophrenia

    PubMed Central

    Laughren, Thomas; Lamers, Femke; Picard, Rosalind; Walther, Sebastian; Goff, Donald; Sainati, Stephen

    2015-01-01

    The success rate in the development of psychopharmacological compounds is insufficient. Two main reasons for failure have been frequently identified: 1) treating the wrong patients and 2) using the wrong dose. This is potentially based on the known heterogeneity among patients, both on a syndromal and a biological level. A focus on personalized medicine through better characterization with biomarkers has been successful in other therapeutic areas. Nevertheless, obstacles toward this goal that exist are 1) the perception of a lack of validation, 2) the perception of an expensive and complicated enterprise, and 3) the perception of regulatory hurdles. The authors tackle these concerns and focus on the utilization of biomarkers as predictive markers for treatment outcome. The authors primarily cover examples from the areas of major depression and schizophrenia. Methodologies covered include salivary and plasma collection of neuroendocrine, metabolic, and inflammatory markers, which identified subgroups of patients in the Netherlands Study of Depression and Anxiety. A battery of vegetative markers, including sleep-electroencephalography parameters, heart rate variability, and bedside functional tests, can be utilized to characterize the activity of a functional system that is related to treatment refractoriness in depression (e.g., the renin-angiotensin-aldosterone system). Actigraphy and skin conductance can be utilized to classify patients with schizophrenia and provide objective readouts for vegetative activation as a functional marker of target engagement. Genetic markers, related to folate metabolism, or folate itself, has prognostic value for the treatment response in patients with schizophrenia. Already, several biomarkers are routinely collected in standard clinical trials (e.g., blood pressure and plasma electrolytes), and appear to be differentiating factors for treatment outcome. Given the availability of a wide variety of markers, the further development

  3. Personalization.

    ERIC Educational Resources Information Center

    Shore, Rebecca Martin

    1996-01-01

    Describes how a typical high school in Huntington Beach, California, curbed disruptive student behavior by personalizing the school experience for "problem" students. Through mostly volunteer efforts, an adopt-a-kid program was initiated that matched kids' learning styles to adults' personality styles and resulted in fewer suspensions…

  4. Genomics, molecular imaging, bioinformatics, and bio-nano-info integration are synergistic components of translational medicine and personalized healthcare research

    PubMed Central

    2008-01-01

    Supported by National Science Foundation (NSF), International Society of Intelligent Biological Medicine (ISIBM), International Journal of Computational Biology and Drug Design and International Journal of Functional Informatics and Personalized Medicine, IEEE 7th Bioinformatics and Bioengineering attracted more than 600 papers and 500 researchers and medical doctors. It was the only synergistic inter/multidisciplinary IEEE conference with 24 Keynote Lectures, 7 Tutorials, 5 Cutting-Edge Research Workshops and 32 Scientific Sessions including 11 Special Research Interest Sessions that were designed dynamically at Harvard in response to the current research trends and advances. The committee was very grateful for the IEEE Plenary Keynote Lectures given by: Dr. A. Keith Dunker (Indiana), Dr. Jun Liu (Harvard), Dr. Brian Athey (Michigan), Dr. Mark Borodovsky (Georgia Tech and President of ISIBM), Dr. Hamid Arabnia (Georgia and Vice-President of ISIBM), Dr. Ruzena Bajcsy (Berkeley and Member of United States National Academy of Engineering and Member of United States Institute of Medicine of the National Academies), Dr. Mary Yang (United States National Institutes of Health and Oak Ridge, DOE), Dr. Chih-Ming Ho (UCLA and Member of United States National Academy of Engineering and Academician of Academia Sinica), Dr. Andy Baxevanis (United States National Institutes of Health), Dr. Arif Ghafoor (Purdue), Dr. John Quackenbush (Harvard), Dr. Eric Jakobsson (UIUC), Dr. Vladimir Uversky (Indiana), Dr. Laura Elnitski (United States National Institutes of Health) and other world-class scientific leaders. The Harvard meeting was a large academic event 100% full-sponsored by IEEE financially and academically. After a rigorous peer-review process, the committee selected 27 high-quality research papers from 600 submissions. The committee is grateful for contributions from keynote speakers Dr. Russ Altman (IEEE BIBM conference keynote lecturer on combining simulation and machine

  5. Genomics, molecular imaging, bioinformatics, and bio-nano-info integration are synergistic components of translational medicine and personalized healthcare research.

    PubMed

    Yang, Jack Y; Yang, Mary Qu; Arabnia, Hamid R; Deng, Youping

    2008-09-16

    Supported by National Science Foundation (NSF), International Society of Intelligent Biological Medicine (ISIBM), International Journal of Computational Biology and Drug Design and International Journal of Functional Informatics and Personalized Medicine, IEEE 7th Bioinformatics and Bioengineering attracted more than 600 papers and 500 researchers and medical doctors. It was the only synergistic inter/multidisciplinary IEEE conference with 24 Keynote Lectures, 7 Tutorials, 5 Cutting-Edge Research Workshops and 32 Scientific Sessions including 11 Special Research Interest Sessions that were designed dynamically at Harvard in response to the current research trends and advances. The committee was very grateful for the IEEE Plenary Keynote Lectures given by: Dr. A. Keith Dunker (Indiana), Dr. Jun Liu (Harvard), Dr. Brian Athey (Michigan), Dr. Mark Borodovsky (Georgia Tech and President of ISIBM), Dr. Hamid Arabnia (Georgia and Vice-President of ISIBM), Dr. Ruzena Bajcsy (Berkeley and Member of United States National Academy of Engineering and Member of United States Institute of Medicine of the National Academies), Dr. Mary Yang (United States National Institutes of Health and Oak Ridge, DOE), Dr. Chih-Ming Ho (UCLA and Member of United States National Academy of Engineering and Academician of Academia Sinica), Dr. Andy Baxevanis (United States National Institutes of Health), Dr. Arif Ghafoor (Purdue), Dr. John Quackenbush (Harvard), Dr. Eric Jakobsson (UIUC), Dr. Vladimir Uversky (Indiana), Dr. Laura Elnitski (United States National Institutes of Health) and other world-class scientific leaders. The Harvard meeting was a large academic event 100% full-sponsored by IEEE financially and academically. After a rigorous peer-review process, the committee selected 27 high-quality research papers from 600 submissions. The committee is grateful for contributions from keynote speakers Dr. Russ Altman (IEEE BIBM conference keynote lecturer on combining simulation and machine

  6. Model-guided therapy for hepatocellular carcinoma: a role for information technology in predictive, preventive and personalized medicine

    PubMed Central

    2014-01-01

    Predictive, preventive and personalized medicine (PPPM) may have the potential to eventually improve the nature of health care delivery. However, the tools required for a practical and comprehensive form of PPPM that is capable of handling the vast amounts of medical information that is currently available are currently lacking. This article reviews a rationale and method for combining and integrating diagnostic and therapeutic management with information technology (IT), in a manner that supports patients through their continuum of care. It is imperative that any program devised to explore and develop personalized health care delivery must be firmly rooted in clinically confirmed and accepted principles and technologies. Therefore, a use case, relating to hepatocellular carcinoma (HCC), was developed. The approach to the management of medical information we have taken is based on model theory and seeks to implement a form of model-guided therapy (MGT) that can be used as a decision support system in the treatment of patients with HCC. The IT structures to be utilized in MGT include a therapy imaging and model management system (TIMMS) and a digital patient model (DPM). The system that we propose will utilize patient modeling techniques to generate valid DPMs (which factor in age, physiologic condition, disease and co-morbidities, genetics, biomarkers and responses to previous treatments). We may, then, be able to develop a statistically valid methodology, on an individual basis, to predict certain diseases or conditions, to predict certain treatment outcomes, to prevent certain diseases or complications and to develop treatment regimens that are personalized for that particular patient. An IT system for predictive, preventive and personalized medicine (ITS-PM) for HCC is presented to provide a comprehensive system to provide unified access to general medical and patient-specific information for medical researchers and health care providers from different

  7. Personalized medicine in sporadic pancreatic cancer without homologous recombination-deficiency: are we any closer?

    PubMed Central

    Cohen, Steven J.

    2016-01-01

    Pancreatic adenocarcinoma is the fourth leading cause of cancer related death in the United States. Most patients are diagnosed at a late stage and despite recent advances in chemotherapeutic approaches, outcomes are poor. With the introduction of combination chemotherapy, novel biomarkers are clearly needed to identify subsets of patients likely to benefit from these therapies. Advances in our understanding of the molecular drivers of pancreatic cancer offer the hope of personalized therapy that may benefit our patients. In this review, we summarize the current knowledge about the biology of pancreatic cancer and its implication for treatment. We discuss recent advances in targeted therapies and the role of potential biomarkers in predicting response to established therapies. We also review novel therapeutic approaches that may be able to fulfill the promise of personalized therapy for pancreatic cancer. PMID:27747087

  8. Preventive Medicine in World War II. Volume 3. Personal Health Measures and Immunization

    DTIC Science & Technology

    1955-01-01

    avoidance of unauthorized water and food, and any other measure that the soldier is directed to take to preserve his health. Trenchfoot, which was a...the individual of sanitary measures for disposal of waste and purification of water . By World War I the basic rules for personal hygiene and command...States Army Tennessee maneuvers stated: ". . . defecation on the ground was not uncommon. . . Enlisted men obtained food and water from unauthorized

  9. In Search of the Perfect Business Model: As personalized medicine moves into the mainstream, makers of diagnostics must face a new economic reality. How to develop a value proposition in a healthcare market that is becoming increasingly elastic?

    PubMed

    Carlson, Bob

    2012-01-01

    As personalized medicine edges toward the mainstream, economic realities threaten its existence. But without companion diagnostics, "getting the right drug to the right person" could wind up being just a slogan. What's the right business model?

  10. Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine.

    PubMed

    Castellsagué, Joan; Gel, Bernat; Fernández-Rodríguez, Juana; Llatjós, Roger; Blanco, Ignacio; Benavente, Yolanda; Pérez-Sidelnikova, Diana; García-Del Muro, Javier; Viñals, Joan Maria; Vidal, August; Valdés-Mas, Rafael; Terribas, Ernest; López-Doriga, Adriana; Pujana, Miguel Angel; Capellá, Gabriel; Puente, Xose S; Serra, Eduard; Villanueva, Alberto; Lázaro, Conxi

    2015-05-01

    Malignant peripheral nerve sheath tumors (MPNSTs) are soft-tissue sarcomas that can arise either sporadically or in association with neurofibromatosis type 1 (NF1). These aggressive malignancies confer poor survival, with no effective therapy available. We present the generation and characterization of five distinct MPNST orthoxenograft models for preclinical testing and personalized medicine. Four of the models are patient-derived tumor xenografts (PDTX), two independent MPNSTs from the same NF1 patient and two from different sporadic patients. The fifth model is an orthoxenograft derived from an NF1-related MPNST cell line. All MPNST orthoxenografts were generated by tumor implantation, or cell line injection, next to the sciatic nerve of nude mice, and were perpetuated by 7-10 mouse-to-mouse passages. The models reliably recapitulate the histopathological properties of their parental primary tumors. They also mimic distal dissemination properties in mice. Human stroma was rapidly lost after MPNST engraftment and replaced by murine stroma, which facilitated genomic tumor characterization. Compatible with an origin in a catastrophic event and subsequent genome stabilization, MPNST contained highly altered genomes that remained remarkably stable in orthoxenograft establishment and along passages. Mutational frequency and type of somatic point mutations were highly variable among the different MPNSTs modeled, but very consistent when comparing primary tumors with matched orthoxenografts generated. Unsupervised cluster analysis and principal component analysis (PCA) using an MPNST expression signature of ~1,000 genes grouped together all primary tumor-orthoxenograft pairs. Our work points to differences in the engraftment process of primary tumors compared with the engraftment of established cell lines. Following standardization and extensive characterization and validation, the orthoxenograft models were used for initial preclinical drug testing. Sorafenib (a BRAF

  11. Simplistic and complex thought in medicine: the rationale for a person-centered care model as a medical revolution

    PubMed Central

    Reach, Gérard

    2016-01-01

    According to the concept developed by Thomas Kuhn, a scientific revolution occurs when scientists encounter a crisis due to the observation of anomalies that cannot be explained by the generally accepted paradigm within which scientific progress has thereto been made: a scientific revolution can therefore be described as a change in paradigm aimed at solving a crisis. Described herein is an application of this concept to the medical realm, starting from the reflection that during the past decades, the medical community has encountered two anomalies that, by their frequency and consequences, represent a crisis in the system, as they deeply jeopardize the efficiency of care: nonadherence of patients who do not follow the prescriptions of their doctors, and clinical inertia of doctors who do not comply with good practice guidelines. It is proposed that these phenomena are caused by a contrast between, on the one hand, the complex thought of patients and doctors that sometimes escapes rationalization, and on the other hand, the simplification imposed by the current paradigm of medicine dominated by the technical rationality of evidence-based medicine. It is suggested therefore that this crisis must provoke a change in paradigm, inventing a new model of care defined by an ability to take again into account, on an individual basis, the complex thought of patients and doctors. If this overall analysis is correct, such a person-centered care model should represent a solution to the two problems of patients’ nonadherence and doctors’ clinical inertia, as it tackles their cause. These considerations may have important implications for the teaching and the practice of medicine. PMID:27103790

  12. The forthcoming era of precision medicine.

    PubMed

    Gamulin, Stjepan

    2016-11-01

    The aim of this essay is to present the definition and principles of personalized or precision medicine, the perspective and barriers to its development and clinical application. The implementation of precision medicine in health care requires the coordinated efforts of all health care stakeholders (the biomedical community, government, regulatory bodies, patients' groups). Particularly, translational research with the integration of genomic and comprehensive data from all levels of the organism ("big data"), development of bioinformatics platforms enabling network analysis of disease etiopathogenesis, development of a legislative framework for handling personal data, and new paradigms of medical education are necessary for successful application of the concept of precision medicine in health care.

  13. Human kidney cell reprogramming: applications for disease modeling and personalized medicine.

    PubMed

    O'Neill, Adam C; Ricardo, Sharon D

    2013-09-01

    The ability to reprogram fully differentiated cells into a pluripotent embryonic state, termed induced pluripotent stem cells (iPSCs), has been met with great excitement. iPSC technology has advanced the fundamental study of disease modeling with the potential for cell-replacement therapy, especially in the neuronal and cardiac fields. However, renal medicine as of yet has not benefited from similar advancements. This review summarizes the unique characteristics of iPSCs and their potential applications for modeling kidney disease. Pioneering such endeavors could yield constructs that recapitulate disease phenotypes, open avenues for more targeted drug development, and potentially serve as replenishable sources for replacement of kidney cells in the setting of human disease.

  14. Targeted Nanotheranostics for Future Personalized Medicine: Recent Progress in Cancer Therapy

    PubMed Central

    Jo, Sung Duk; Ku, Sook Hee; Won, You-Yeon; Kim, Sun Hwa; Kwon, Ick Chan

    2016-01-01

    Recently, many theranostic nanomaterials have been developed by integrating therapeutic and diagnostic agents in a single regimen. Real-time visualization of nano drug carrier biodistributions, drug release processes and therapeutic responses can provide critical information needed for dynamically optimizing treatment operations in a personalized manner in real time. This review highlights recent progresses in the development of multifunctional nanoparticles possessing both therapeutic and imaging functionalities for cancer therapy. The advantages of using nanoparticle platforms are discussed. Examples demonstrating various combinations of imaging and therapeutic modalities are highlighted. PMID:27375785

  15. The resonance phenomenon in population persistence: can the same theory guide both national security policies and personalized medicine?

    PubMed

    Agur, Zvia

    2014-04-01

    The theory of resonance in population persistence proposes that the survival of a population that is exposed to externally inflicted loss processes (disturbances) during part of its life cycle is dependent on the relation between the average period of the disturbances and the average generation time of the population. This suggests that the size of a population can be controlled by manipulating the period between external disturbances. This theory, first formalized in a study of intertidal Red Sea mollusks exposed to periodic storms, has been found to apply to such seemingly disparate phenomena as the spread of a pathogen among susceptible individuals and the response of malignant cancer cells to chemotherapy. The current article provides a brief review of the evolution of the resonance theory into a tool that can be applied to designing vaccination policies - specifically, in preparedness for bio-terrorism attacks - and in personalized medicine. A personalized protocol based on the resonance theory was applied to a cancer patient, stabilizing his tumor progression, relieving his hematopoietic toxicity, and extending his survival.

  16. A descriptive analysis of personality and gender at the Louisiana State University School of Veterinary Medicine.

    PubMed

    Johnson, Stephanie W; Gill, Marjorie S; Grenier, Charles; Taboada, Joseph

    2009-01-01

    The goals of this study were to explore the Myers-Briggs Type Indicator profile and gender differences of Louisiana State University veterinary students. A 12-year composite sample (N = 935) revealed that the personality profile was different from the published US population norm, but similar to the bimodal ESTJ-ISTJ profile found in Louisiana medical students. Significant gender differences were found among six of the 16 types. A 12-year trend analysis revealed a significant shift away from the prototypical ESTJ-ISTJ profile, culminating in a discernable heterogeneous profile for both males and females in the last four years. Composite scores for the 2004-2007 cohort (N = 331) revealed that the predominant types for women were ENFP, ESFJ, ESTJ, ISFJ, and ISTJ. For men, the predominant types were ESTJ, ESTP, INTP, and ISTJ. Post hoc tests confirmed significant gender differences for ESTP, INTP, ISTP, and ESFJ types. The evidence of significant gender differences and confirmation that personality profiles have begun to vary widely across the Myers-Briggs Type Indicator spectrum in the last four years have implications at the practical and theoretical levels. This could have profound effects on pedagogical considerations for faculty involved in veterinary medical education.

  17. [Personal and dignified death. The role of pastoral care in palliative medicine].

    PubMed

    Breit-Keßler, Susanne

    2016-03-01

    Palliative pastoral care is not about "adding days to life, but about "adding life to days". It does not matter whether the dying process is short or long. What matters is to ensure the best possible quality of life until the very end through mindful companionship. Palliative pastoral care is a path towards a personal dying, dying where the person is taken seriously as an individual until the last moment. Palliative care includes medical assistance, careful care, psychosocial support, and counselling that addresses the spiritual needs of the dying. This palliative care includes inpatient and outpatient hospice work and accompanies not only the patients but also their relatives. It must become the standard procedure in end of life care. The palliative pastoral care also take the needs of medical staff into account: Time-consuming care for the dying exceeds the staff's time budget. A sudden death can be perceived as traumatic. In this case palliative pastoral care must perform the tasks of crisis management, crisis intervention and de-escalation. The debriefing of involved staff can prevent the development of burn-out syndrome. In the view of holistic healthcare, health insurance funds should co-finance pastoral care. Society and humanity benefit from addressing the needs of the dying. In an economically dominated environment it is a social responsibility to make dying humane.

  18. Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry

    PubMed Central

    Kessler, Michael D.; Yerges-Armstrong, Laura; Taub, Margaret A.; Shetty, Amol C.; Maloney, Kristin; Jeng, Linda Jo Bone; Ruczinski, Ingo; Levin, Albert M.; Williams, L. Keoki; Beaty, Terri H.; Mathias, Rasika A.; Barnes, Kathleen C.; Boorgula, Meher Preethi; Campbell, Monica; Chavan, Sameer; Ford, Jean G.; Foster, Cassandra; Gao, Li; Hansel, Nadia N.; Horowitz, Edward; Huang, Lili; Ortiz, Romina; Potee, Joseph; Rafaels, Nicholas; Scott, Alan F.; Vergara, Candelaria; Gao, Jingjing; Hu, Yijuan; Johnston, Henry Richard; Qin, Zhaohui S.; Padhukasahasram, Badri; Dunston, Georgia M.; Faruque, Mezbah U.; Kenny, Eimear E.; Gietzen, Kimberly; Hansen, Mark; Genuario, Rob; Bullis, Dave; Lawley, Cindy; Deshpande, Aniket; Grus, Wendy E.; Locke, Devin P.; Foreman, Marilyn G.; Avila, Pedro C.; Grammer, Leslie; Kim, Kwang-YounA; Kumar, Rajesh; Schleimer, Robert; Bustamante, Carlos; De La Vega, Francisco M.; Gignoux, Chris R.; Shringarpure, Suyash S.; Musharoff, Shaila; Wojcik, Genevieve; Burchard, Esteban G.; Eng, Celeste; Gourraud, Pierre-Antoine; Hernandez, Ryan D.; Lizee, Antoine; Pino-Yanes, Maria; Torgerson, Dara G.; Szpiech, Zachary A.; Torres, Raul; Nicolae, Dan L.; Ober, Carole; Olopade, Christopher O.; Olopade, Olufunmilayo; Oluwole, Oluwafemi; Arinola, Ganiyu; Song, Wei; Abecasis, Goncalo; Correa, Adolfo; Musani, Solomon; Wilson, James G.; Lange, Leslie A.; Akey, Joshua; Bamshad, Michael; Chong, Jessica; Fu, Wenqing; Nickerson, Deborah; Reiner, Alexander; Hartert, Tina; Ware, Lorraine B.; Bleecker, Eugene; Meyers, Deborah; Ortega, Victor E.; Pissamai, Maul R. N.; Trevor, Maul R. N.; Watson, Harold; Araujo, Maria Ilma; Oliveira, Ricardo Riccio; Caraballo, Luis; Marrugo, Javier; Martinez, Beatriz; Meza, Catherine; Ayestas, Gerardo; Herrera-Paz, Edwin Francisco; Landaverde-Torres, Pamela; Erazo, Said Omar Leiva; Martinez, Rosella; Mayorga, Alvaro; Mayorga, Luis F.; Mejia-Mejia, Delmy-Aracely; Ramos, Hector; Saenz, Allan; Varela, Gloria; Vasquez, Olga Marina; Ferguson, Trevor; Knight-Madden, Jennifer; Samms-Vaughan, Maureen; Wilks, Rainford J.; Adegnika, Akim; Ateba-Ngoa, Ulysse; Yazdanbakhsh, Maria; O'Connor, Timothy D.

    2016-01-01

    To characterize the extent and impact of ancestry-related biases in precision genomic medicine, we use 642 whole-genome sequences from the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) project to evaluate typical filters and databases. We find significant correlations between estimated African ancestry proportions and the number of variants per individual in all variant classification sets but one. The source of these correlations is highlighted in more detail by looking at the interaction between filtering criteria and the ClinVar and Human Gene Mutation databases. ClinVar's correlation, representing African ancestry-related bias, has changed over time amidst monthly updates, with the most extreme switch happening between March and April of 2014 (r=0.733 to r=−0.683). We identify 68 SNPs as the major drivers of this change in correlation. As long as ancestry-related bias when using these clinical databases is minimally recognized, the genetics community will face challenges with implementation, interpretation and cost-effectiveness when treating minority populations. PMID:27725664

  19. Personalized medicine: theranostics (therapeutics diagnostics) essential for rational use of tumor necrosis factor-alpha antagonists.

    PubMed

    Bendtzen, Klaus

    2013-04-01

    With the discovery of the central pathogenic role of tumor necrosis factor (TNF)-alpha in many immunoinflammatory diseases, specific inhibition of this pleiotropic cytokine has revolutionized the treatment of patients with several non-infectious inflammatory disorders. As a result, genetically engineered anti-TNF-alpha antibody constructs now constitute one of the heaviest medicinal expenditures in many countries. All currently used TNF antagonists may dramatically lower disease activity and, in some patients, induce remission. Unfortunately, however, not all patients respond favorably, and safety can be severely impaired by immunogenicity, i.e., the ability of a drug to induce anti-drug antibodies (ADA). Assessment of ADA is therefore an important component of the evaluation of drug safety in both pre-clinical and clinical studies and in the process of developing less immunogenic and safer biopharmaceuticals. Therapeutics diagnostics, also called theranostics, i.e., monitoring functional drug levels and neutralizing ADA in the circulation, is central to more effective use of biopharmaceuticals. Hence, testing-based strategies rather than empirical dose-escalation may provide more cost-effective use of TNF antagonists as this allows therapies tailored according to individual requirements rather than the current universal approach to diagnosis. The objective of the present review is to discuss the reasons for recommending theranostics to implement an individualized use of TNF antagonists and to highlight some of the methodological obstacles that have obscured cost-effective ways of using these therapies.

  20. Cancer: an emergent property of disturbed resource-rich environments? Ecology meets personalized medicine.

    PubMed

    Ducasse, Hugo; Arnal, Audrey; Vittecoq, Marion; Daoust, Simon P; Ujvari, Beata; Jacqueline, Camille; Tissot, Tazzio; Ewald, Paul; Gatenby, Robert A; King, Kayla C; Bonhomme, François; Brodeur, Jacques; Renaud, François; Solary, Eric; Roche, Benjamin; Thomas, Frédéric

    2015-07-01

    For an increasing number of biologists, cancer is viewed as a dynamic system governed by evolutionary and ecological principles. Throughout most of human history, cancer was an uncommon cause of death and it is generally accepted that common components of modern culture, including increased physiological stresses and caloric intake, favor cancer development. However, the precise mechanisms for this linkage are not well understood. Here, we examine the roles of ecological and physiological disturbances and resource availability on the emergence of cancer in multicellular organisms. We argue that proliferation of 'profiteering phenotypes' is often an emergent property of disturbed, resource-rich environments at all scales of biological organization. We review the evidence for this phenomenon, explore it within the context of malignancy, and discuss how this ecological framework may offer a theoretical background for novel strategies of cancer prevention. This work provides a compelling argument that the traditional separation between medicine and evolutionary ecology remains a fundamental limitation that needs to be overcome if complex processes, such as oncogenesis, are to be completely understood.

  1. Cancer: an emergent property of disturbed resource-rich environments? Ecology meets personalized medicine

    PubMed Central

    Ducasse, Hugo; Arnal, Audrey; Vittecoq, Marion; Daoust, Simon P; Ujvari, Beata; Jacqueline, Camille; Tissot, Tazzio; Ewald, Paul; Gatenby, Robert A; King, Kayla C; Bonhomme, François; Brodeur, Jacques; Renaud, François; Solary, Eric; Roche, Benjamin; Thomas, Frédéric

    2015-01-01

    For an increasing number of biologists, cancer is viewed as a dynamic system governed by evolutionary and ecological principles. Throughout most of human history, cancer was an uncommon cause of death and it is generally accepted that common components of modern culture, including increased physiological stresses and caloric intake, favor cancer development. However, the precise mechanisms for this linkage are not well understood. Here, we examine the roles of ecological and physiological disturbances and resource availability on the emergence of cancer in multicellular organisms. We argue that proliferation of ‘profiteering phenotypes’ is often an emergent property of disturbed, resource-rich environments at all scales of biological organization. We review the evidence for this phenomenon, explore it within the context of malignancy, and discuss how this ecological framework may offer a theoretical background for novel strategies of cancer prevention. This work provides a compelling argument that the traditional separation between medicine and evolutionary ecology remains a fundamental limitation that needs to be overcome if complex processes, such as oncogenesis, are to be completely understood. PMID:26136819

  2. [Clinical nutrition therapy in patients with short bowel syndrome in line with principles of personalized medicine].

    PubMed

    Sahin, Péter; Molnár, Andrea; Varga, Mária; Bíró, Ilona; Kőmíves, Csilla; Fejér, Csaba; Futó, Judit; Tomsits, Erika; Topa, Lajos

    2014-12-21

    Home parenteral nutrition administered in selected care centres has been financed in Hungary since January, 2013. The authors discuss diagnostic issues, treatment and nutrition therapy of short bowel syndrome patients in line with the principles of personalised medicine. The most severe form of short bowel syndrome occurs in patients having jejunostomy, whose treatment is discussed separately. The authors give a detailed overview of home parenteral feeding, its possible complications, outcomes and adaptation of the remaining bowel. They describe how their own care centre operates where they administer home parenteral nutrition to 12 patients with short bowel syndrome (5 females and 7 males aged 51.25±14.4 years). The body mass index was 19.07±5.08 kg/m2 and 20.87±3.3 kg/m2, skeletal muscle mass was 25.7±6.3 kg and 26.45±5.38 kg, and body fat mass was 14.25±8.55 kg and 11.77±2.71 kg at the start of home parenteral nutrition and presently, respectively. The underlying conditions of short bowel syndrome were tumours in 4 patients, bowel ischaemia in four patients, surgical complications in three patients, Crohn's disease in one patient, and Crohn's disease plus tumour in one patient.

  3. Personalized medicine and treatment approaches in non-small-cell lung carcinoma

    PubMed Central

    Vadakara, Joseph; Borghaei, Hossein

    2012-01-01

    Chemotherapy has been the traditional backbone for the management of metastatic lung cancer. Multiple trials have shown the benefits of treatment with platinum doublets in lung cancer. This “one treatment fits all” approach was further refined by the introduction of targeted agents and discovery of subpopulations of patients who benefited from treatment with these agents. It has also become evident that certain histologic subtypes of non-small-cell lung cancer respond better to one cytotoxic chemotherapy versus others. This has led to the concept of using histology to guide therapy. With the introduction of epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors and the discovery of activating mutations in the EGFR gene, further personalization of treatment for subgroups of patients has become a reality. More recently, the presence of a fusion gene, echinoderm microtubule-associated protein-like 4 – anaplastic lymphoma kinase (EML4-ALK), was identified as the driver mutation in yet another subgroup of patients, and subsequent studies have led to approval of crizotinib in this group of patients. In this article, efforts in personalizing delivery of care based on the histological subtypes of lung cancer and the role of K-RAS and EGFR mutations, EML4/ALK translocation, and ERCC1 (excision repair cross-complementing 1) and EGFR expression in choosing appropriate treatments for patients with advanced lung cancer are discussed. This article also reviews the problem of resistance to EGFR tyrosine kinase inhibitors and the ongoing trials that target novel pathways and mechanisms that are implicated in resistance. PMID:23226067

  4. Personalized Respiratory Medicine: Exploring the Horizon, Addressing the Issues. Summary of a BRN-AJRCCM Workshop Held in Barcelona on June 12, 2014

    PubMed Central

    Antó, Josep Maria; Auffray, Charles; Barbé, Ferran; Barreiro, Esther; Dorca, Jordi; Escarrabill, Joan; Faner, Rosa; Furlong, Laura I.; Garcia-Aymerich, Judith; Gea, Joaquim; Lindmark, Bertil; Monsó, Eduard; Plaza, Vicente; Puhan, Milo A.; Roca, Josep; Ruiz-Manzano, Juan; Sampietro-Colom, Laura; Sanz, Ferran; Serrano, Luis; Sharpe, James; Sibila, Oriol; Silverman, Edwin K.; Sterk, Peter J.; Sznajder, Jacob I.

    2015-01-01

    This Pulmonary Perspective summarizes the content and main conclusions of an international workshop on personalized respiratory medicine coorganized by the Barcelona Respiratory Network (www.brn.cat) and the AJRCCM in June 2014. It discusses (1) its definition and historical, social, legal, and ethical aspects; (2) the view from different disciplines, including basic science, epidemiology, bioinformatics, and network/systems medicine; (3) the bottlenecks and opportunities identified by some currently ongoing projects; and (4) the implications for the individual, the healthcare system and the pharmaceutical industry. The authors hope that, although it is not a systematic review on the subject, this document can be a useful reference for researchers, clinicians, healthcare managers, policy-makers, and industry parties interested in personalized respiratory medicine. PMID:25531178

  5. Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic Epidemiology

    PubMed Central

    Li, Aihua; Meyre, David

    2014-01-01

    With the decrease in sequencing costs, personalized genome sequencing will eventually become common in medical practice. We therefore write this series of three reviews to help non-geneticist clinicians to jump into the fast-moving field of personalized medicine. In the first article of this series, we reviewed the fundamental concepts in molecular genetics. In this second article, we cover the key concepts and methods in genetic epidemiology including the classification of genetic disorders, study designs and their implementation, genetic marker selection, genotyping and sequencing technologies, gene identification strategies, data analyses and data interpretation. This review will help the reader critically appraise a genetic association study. In the next article, we will discuss the clinical applications of genetic epidemiology in the personalized medicine area. PMID:25598767

  6. Novel delivery device for monolithical solid oral dosage forms for personalized medicine.

    PubMed

    Wening, Klaus; Breitkreutz, Jörg

    2010-08-16

    There is an evident need for solid oral dosage forms allowing patients' tailor-made dosing due to variations in metabolization or small therapeutic indexes of drug substances. The objective of this work is the development of a device equipped with a novel solid dosage form, containing carvedilol as model drug, for the delivery of monolithical drug carriers in individual doses. The device was developed and constructed enabling an exact feed rate and dose adjustment by a cutting mechanism. A twin-screw extruder was used for producing cylindrical solid dosage forms. Divided doses were characterized by mass variation, cutting behavior and drug dissolution in order to investigate their applicability for practical use. Different formulations could be extruded obtaining straight cylindrical rods, which are divisible in exact slices by using the novel device. Forces below 20 N were needed to divide doses which comply with pharmacopoeial specification "conformity of mass". The developed formulations exhibit a sustained release of carvedilol within a range from 7 up to 16 h. A novel system consisting of a device and a cylindrical dosage form was developed. Patients' individual doses can be applied as monolithical solid dosage forms for oral use.

  7. Pharmacogenetics: implications of race and ethnicity on defining genetic profiles for personalized medicine.

    PubMed

    Ortega, Victor E; Meyers, Deborah A

    2014-01-01

    Pharmacogenetics is being used to develop personalized therapies specific to subjects from different ethnic or racial groups. To date, pharmacogenetic studies have been primarily performed in trial cohorts consisting of non-Hispanic white subjects of European descent. A "bottleneck" or collapse of genetic diversity associated with the first human colonization of Europe during the Upper Paleolithic period, followed by the recent mixing of African, European, and Native American ancestries, has resulted in different ethnic groups with varying degrees of genetic diversity. Differences in genetic ancestry might introduce genetic variation, which has the potential to alter the therapeutic efficacy of commonly used asthma therapies, such as β2-adrenergic receptor agonists (β-agonists). Pharmacogenetic studies of admixed ethnic groups have been limited to small candidate gene association studies, of which the best example is the gene coding for the receptor target of β-agonist therapy, the β2-adrenergic receptor (ADRB2). Large consortium-based sequencing studies are using next-generation whole-genome sequencing to provide a diverse genome map of different admixed populations, which can be used for future pharmacogenetic studies. These studies will include candidate gene studies, genome-wide association studies, and whole-genome admixture-based approaches that account for ancestral genetic structure, complex haplotypes, gene-gene interactions, and rare variants to detect and replicate novel pharmacogenetic loci.

  8. Summary of emerging personalized medicine in neuroendocrine tumors: are we on track?

    PubMed Central

    O’Neil, Bert H.

    2016-01-01

    Neuroendocrine tumors (NETs) comprise a heterogeneous group of malignancies, with differences in prognosis and effective therapies. Traditionally, NETs have been characterized by tumor grade, site of primary tumor, functional status, and presence of underlying familial syndrome. However, increased feasibility and utilization of next-generation sequencing and other methodologies have revealed new genomic and epigenetic aberrations. In the last decade, treatment options available for metastatic well-differentiated gastroenteropancreatic (GEP) NETs have expanded, with approval of antiangiogenic and mTOR-directed targeted therapies, and our armamentarium of active therapies is likely to further increase. Cytotoxic therapies also are an important option for pancreatic NETs, and MGMT promoter methylation and protein expression may be an important biomarker for efficacy of alkylating agents. Peptide receptor radioligand therapy is an emerging treatment that uses functional imaging to personalize dosimetry to the tumor and avoid nephrotoxicity. Nevertheless, there is a critical need for further biomarkers, particularly multianalyte biomarkers, to aid in prognostication and predict efficacy of therapies. PMID:27747094

  9. BRAFV600E Mutation in Melanotic Neuroectodermal Tumor of Infancy: Toward Personalized Medicine?

    PubMed

    Gomes, Carolina C; Diniz, Marina G; de Menezes, Grazielle Helena F; Castro, Wagner H; Gomez, Ricardo S

    2015-07-01

    The melanotic neuroectodermal tumor of infancy (MNTI) is a rare neoplasm that primarily affects the maxilla of infants during their first year of life. Complete resection is the conventional treatment and recurrence rates vary from 10% to 60%. The recurrent tumors grow more aggressively and can invade other anatomic structures, such as the nasal cavity, the orbit, and the skull base. The aggressive behavior of MNTIs may require radical resection, which may not be possible in some cases because of its rapid and invading growth together with invasion of vital structures. In these situations, adjunct radiotherapy or chemotherapy has been used. However, as there are no conclusive data regarding the molecular profile of this tumor, currently there is no targeted therapy that may be used in the treatment of selected aggressive cases. On the basis of MNTI similarities with melanomas, such as derivation from the neural crest cells and presence of large melanin-containing cells, we hypothesized that MNTIs also may harbor the BRAFV600E oncogenic mutation. We show for the first time that this important pediatric tumor may harbor the oncogenic BRAFV600E mutation, providing the first insights to their personalized treatment.

  10. Clinical Application of CYP2C19 Pharmacogenetics Toward More Personalized Medicine

    PubMed Central

    Lee, Su-Jun

    2013-01-01

    More than 30 years of genetic research on the CYP2C19 gene alone has identified approximately 2,000 reference single nucleotide polymorphisms (rsSNPs) containing 28 registered alleles in the P450 Allele Nomenclature Committee and the number continues to increase. However, knowledge of CYP2C19 SNPs remains limited with respect to biological functions. Functional information on the variant is essential for justifying its clinical use. Only common variants (minor allele frequency >5%) that represent CYP2C19*2, *3, *17, and others have been mostly studied. Discovery of new genetic variants is outstripping the generation of knowledge on the biological meanings of existing variants. Alternative strategies may be needed to fill this gap. The present study summarizes up-to-date knowledge on functional CYP2C19 variants discovered in phenotyped humans studied at the molecular level in vitro. Understanding the functional meanings of CYP2C19 variants is an essential step toward shifting the current medical paradigm to highly personalized therapeutic regimens. PMID:23378847

  11. Biomarker discovery by proteomics-based approaches for early detection and personalized medicine in colorectal cancer.

    PubMed

    Corbo, Claudia; Cevenini, Armando; Salvatore, Francesco

    2016-12-26

    About one million people per year develop colorectal cancer (CRC) and approximately half of them die. The extent of the disease (i.e. local invasion at the time of diagnosis) is a key prognostic factor. The 5-year survival rate is almost 90% in the case of delimited CRC and 10% in the case of metastasized CRC. Hence, one of the great challenges in the battle against CRC is to improve early diagnosis strategies. Large-scale proteomic approaches are widely used in cancer research to search for novel biomarkers. Such biomarkers can help in improving the accuracy of the diagnosis and in the optimization of personalized therapy. Herein, we provide an overview of studies published in the last 5 years on CRC that led to the identification of protein biomarkers suitable for clinical application by using proteomic approaches. We discussed these findings according to biomarker application, including also the role of protein phosphorylation and cancer stem cells in biomarker discovery. Our review provides a cross section of scientific approaches and can furnish suggestions for future experimental strategies to be used as reference by scientists, clinicians and researchers interested in proteomics for biomarker discovery.

  12. Genetic data: The new challenge of personalized medicine, insights for rheumatoid arthritis patients.

    PubMed

    Goulielmos, George N; Zervou, Maria I; Myrthianou, Effie; Burska, Agata; Niewold, Timothy B; Ponchel, Frederique

    2016-06-01

    Rapid advances in genotyping technology, analytical methods, and the establishment of large cohorts for population genetic studies have resulted in a large new body of information about the genetic basis of human rheumatoid arthritis (RA). Improved understanding of the root pathogenesis of the disease holds the promise of improved diagnostic and prognostic tools based upon this information. In this review, we summarize the nature of new genetic findings in human RA, including susceptibility loci and gene-gene and gene-environment interactions, as well as genetic loci associated with sub-groups of patients and those associated with response to therapy. Possible uses of these data are discussed, such as prediction of disease risk as well as personalized therapy and prediction of therapeutic response and risk of adverse events. While these applications are largely not refined to the point of clinical utility in RA, it seems likely that multi-parameter datasets including genetic, clinical, and biomarker data will be employed in the future care of RA patients.

  13. Does the Integration of Personalized Ultrasound Change Patient Management in Critical Care Medicine? Observational Trials

    PubMed Central

    Breitkreutz, Raoul; Campo delľ Orto, Marco; Hamm, Christian; Cuca, Colleen; Zechner, Peter M.; Stenger, Tanja; Walcher, Felix; Seeger, Florian H.

    2013-01-01

    Objective. To test the influence of personalized ultrasound (PersUS) on patient management in critical care. Design of the Study. Prospective, observational, and critical care setting. Four substudies compared PersUS and mobile ultrasound, work distribution, and diagnostic and procedural quality. Patients and Interventions. 640 patient ultrasound exams including 548 focused diagnostic exams and 92 interventional procedures. Main Outcome Measures. Number of studies, physician's judgement of feasibility, time of usage per patient, and referrals to echo lab. Results. Randomized availability of PersUS increased its application in ICU work shifts more than twofold from 33 to 68 exams mainly for detection and therapy of effusions. Diagnostic and procedural quality was rated as excellent/very good in PersUS-guided puncture in 95% of cases. Integrating PersUS within an initial physical examination of 48 randomized cases in an emergency department, PersUS extended the examination time by 100 seconds. Interestingly, PersUS integration into 53 randomized regular ward rounds of 1007 patients significantly reduced average contact time per patient by 103 seconds from 8.9 to 7.2 minutes. Moreover, it lowered the patient referral rate to an echo lab from 20% to 2% within the study population. Conclusions. We propose the development of novel ultrasound-based clinical pathways by integration of PersUS. PMID:24455272

  14. Does the integration of personalized ultrasound change patient management in critical care medicine? Observational trials.

    PubMed

    Breitkreutz, Raoul; Campo Delľ Orto, Marco; Hamm, Christian; Cuca, Colleen; Zechner, Peter M; Stenger, Tanja; Walcher, Felix; Seeger, Florian H

    2013-01-01

    Objective. To test the influence of personalized ultrasound (PersUS) on patient management in critical care. Design of the Study. Prospective, observational, and critical care setting. Four substudies compared PersUS and mobile ultrasound, work distribution, and diagnostic and procedural quality. Patients and Interventions. 640 patient ultrasound exams including 548 focused diagnostic exams and 92 interventional procedures. Main Outcome Measures. Number of studies, physician's judgement of feasibility, time of usage per patient, and referrals to echo lab. Results. Randomized availability of PersUS increased its application in ICU work shifts more than twofold from 33 to 68 exams mainly for detection and therapy of effusions. Diagnostic and procedural quality was rated as excellent/very good in PersUS-guided puncture in 95% of cases. Integrating PersUS within an initial physical examination of 48 randomized cases in an emergency department, PersUS extended the examination time by 100 seconds. Interestingly, PersUS integration into 53 randomized regular ward rounds of 1007 patients significantly reduced average contact time per patient by 103 seconds from 8.9 to 7.2 minutes. Moreover, it lowered the patient referral rate to an echo lab from 20% to 2% within the study population. Conclusions. We propose the development of novel ultrasound-based clinical pathways by integration of PersUS.

  15. Rembrandt: Helping Personalized Medicine Become a Reality Through Integrative Translational Research

    PubMed Central

    Madhavan, Subha; Zenklusen, Jean-Claude; Kotliarov, Yuri; Sahni, Himanso; Fine, Howard A.; Buetow, Kenneth

    2009-01-01

    Finding better therapies for the treatment of brain tumors is hampered by the lack of consistently obtained molecular data in a large sample set, and ability to integrate biomedical data from disparate sources enabling translation of therapies from bench to bedside. Hence, a critical factor in the advancement of biomedical research and clinical translation is the ease with which data can be integrated, redistributed and analyzed both within and across functional domains. Novel biomedical informatics infrastructure and tools are essential for developing individualized patient treatment based on the specific genomic signatures in each patient’s tumor. Here we present Rembrandt, Repository of Molecular BRAin Neoplasia DaTa, a cancer clinical genomics database and a web-based data mining and analysis platform aimed at facilitating discovery by connecting the dots between clinical information and genomic characterization data. To date, Rembrandt contains data generated through the Glioma Molecular Diagnostic Initiative from 874 glioma specimens comprising nearly 566 gene expression arrays, 834 copy number arrays and 13,472 clinical phenotype data points. Data can be queried and visualized for a selected gene across all data platforms or for multiple genes in a selected platform. Additionally, gene sets can be limited to clinically important annotations including secreted, kinase, membrane, and known gene-anomaly pairs to facilitate the discovery of novel biomarkers and therapeutic targets. We believe that REMBRANDT represents a prototype of how high throughput genomic and clinical data can be integrated in a way that will allow expeditious and efficient translation of laboratory discoveries to the clinic. PMID:19208739

  16. From leeches to personalized medicine: evolving concepts in the management of polycythemia vera

    PubMed Central

    Vannucchi, Alessandro M.

    2017-01-01

    Polycythemia vera is a clonal disorder of hematopoietic stem/progenitor cells. It manifests as an expansion of red cell mass. It is the most common chronic myeloproliferative neoplasm. In virtually all cases, it is characterized by a V617F point mutation in JAK2 exon 14 or less common mutations in exon 12. The landmark discovery of the autonomously activated JAK/STAT signaling pathway paved the way for the clinical development of the first target drug, the JAK1 and JAK2 inhibitor ruxolitinib. This is now approved for patients with resistance or intolerance to hydroxyurea. Phlebotomies and hydroxyurea are still the cornerstone of treatment, and aim to prevent the first appearance or recurrence of cardiovascular events that, together with progression to post-polycythemia vera myelofibrosis and leukemia, represent the main causes of death. Interferon-α is an alternative drug and has been shown to induce molecular remissions. It is currently undergoing phase III trials that might eventually lead to its approval for clinical use. The last few years have witnessed important advances towards an accurate early diagnosis of polycythemia vera, greater understanding of its pathogenesis, and improved patient management. This review will focus on the most recent achievements and will aim to unify the different concepts involved in a personalized approach to the patient with polycythemia vera. In spite of many recent advances in the understanding of its pathogenesis and improved disease management, polycythemia vera remains a life-threatening myeloproliferative neoplasm for which there is no cure. This review will present a critical overview of evolving concepts in diagnosis and treatment of this disease. PMID:27884974

  17. Discovery of a low order drug-cell response surface for applications in personalized medicine

    NASA Astrophysics Data System (ADS)

    Ding, Xianting; Liu, Wenjia; Weiss, Andrea; Li, Yiyang; Wong, Ieong; Griffioen, Arjan W.; van den Bergh, Hubert; Xu, Hongquan; Nowak-Sliwinska, Patrycja; Ho, Chih-Ming

    2014-12-01

    The cell is a complex system involving numerous components, which may often interact in a non-linear dynamic manner. Diseases at the cellular level are thus likely to involve multiple cellular constituents and pathways. As some drugs, or drug combinations, may act synergistically on these multiple pathways, they might be more effective than the respective single target agents. Optimizing a drug mixture for a given disease in a particular patient is particularly challenging due to both the difficulty in the selection of the drug mixture components to start out with, and the all-important doses of these drugs to be applied. For n concentrations of m drugs, in principle, nm combinations will have to be tested. As this may lead to a costly and time-consuming investigation for each individual patient, we have developed a Feedback System Control (FSC) technique which can rapidly select the optimal drug-dose combination from the often millions of possible combinations. By testing this FSC technique in a number of experimental systems representing different disease states, we found that the response of cells to multiple drugs is well described by a low order, rather smooth, drug-mixture-input/drug-effect-output multidimensional surface. The main consequences of this are that optimal drug combinations can be found in a surprisingly small number of tests, and that translation from in vitro to in vivo is simplified. This points to the possibility of personalized optimal drug mixtures in the near future. This unexpectedly simple input-output relationship may also lead to a simple solution for handling the issue of human diversity in cancer therapeutics.

  18. ‘N-of-1- pathways ’ unveils personal deregulated mechanisms from a single pair of RNA-Seq samples: Towards precision medicine

    SciTech Connect

    Gardeux, Vincent; Achour, Ikbel; Li, Jianrong; Maienschein-Cline, Mark; Li, Haiquan; Pesce, Lorenzo; Parinandi, Gurunadh; Bahroos, Neil; Winn, Robert; Garcia, Joe G. N.; Foster, Ian; Lussier, Yves A.

    2014-11-01

    Background: The emergence of precision medicine allowed the incorporation of individual molecular data into patient care. This research entails, DNA sequencing predicts somatic mutations in individual patients. However, these genetic features overlook dynamic epigenetic and phenotypic response to therapy. Meanwhile, accurate personal transcriptome interpretation remains an unmet challenge. Further, N-of-1 (single-subject) efficacy trials are increasingly pursued, but are underpowered for molecular marker discovery. Method: ‘N-of-1-pathways’ is a global framework relying on three principles: (i) the statistical universe is a single patient; (ii) significance is derived from geneset/biomodules powered by paired samples from the same patient; and (iii) similarity between genesets/biomodules assesses commonality and differences, within-study and cross-studies. Thus, patient gene-level profiles are transformed into deregulated pathways. From RNA-Seq of 55 lung adenocarcinoma patients, N-of-1-pathways predicts the deregulated pathways of each patient. Results: Cross-patient N-of-1-pathways obtains comparable results with conventional genesets enrichment analysis (GSEA) and differentially expressed gene (DEG) enrichment, validated in three external evaluations. Moreover, heatmap and star plots highlight both individual and shared mechanisms ranging from molecular to organ-systems levels (eg, DNA repair, signaling, immune response). Patients were ranked based on the similarity of their deregulated mechanisms to those of an independent gold standard, generating unsupervised clusters of diametric extreme survival phenotypes (p=0.03). Conclusions: The N-of-1-pathways framework provides a robust statistical and relevant biological interpretation of individual disease-free survival that is often overlooked in conventional cross-patient studies. It enables mechanism-level classifiers with smaller cohorts as well as N-of-1 studies.

  19. ‘N-of-1- pathways ’ unveils personal deregulated mechanisms from a single pair of RNA-Seq samples: Towards precision medicine

    DOE PAGES

    Gardeux, Vincent; Achour, Ikbel; Li, Jianrong; ...

    2014-11-01

    Background: The emergence of precision medicine allowed the incorporation of individual molecular data into patient care. This research entails, DNA sequencing predicts somatic mutations in individual patients. However, these genetic features overlook dynamic epigenetic and phenotypic response to therapy. Meanwhile, accurate personal transcriptome interpretation remains an unmet challenge. Further, N-of-1 (single-subject) efficacy trials are increasingly pursued, but are underpowered for molecular marker discovery. Method: ‘N-of-1-pathways’ is a global framework relying on three principles: (i) the statistical universe is a single patient; (ii) significance is derived from geneset/biomodules powered by paired samples from the same patient; and (iii) similarity between genesets/biomodulesmore » assesses commonality and differences, within-study and cross-studies. Thus, patient gene-level profiles are transformed into deregulated pathways. From RNA-Seq of 55 lung adenocarcinoma patients, N-of-1-pathways predicts the deregulated pathways of each patient. Results: Cross-patient N-of-1-pathways obtains comparable results with conventional genesets enrichment analysis (GSEA) and differentially expressed gene (DEG) enrichment, validated in three external evaluations. Moreover, heatmap and star plots highlight both individual and shared mechanisms ranging from molecular to organ-systems levels (eg, DNA repair, signaling, immune response). Patients were ranked based on the similarity of their deregulated mechanisms to those of an independent gold standard, generating unsupervised clusters of diametric extreme survival phenotypes (p=0.03). Conclusions: The N-of-1-pathways framework provides a robust statistical and relevant biological interpretation of individual disease-free survival that is often overlooked in conventional cross-patient studies. It enables mechanism-level classifiers with smaller cohorts as well as N-of-1 studies.« less

  20. Knowledge-Based Personal Health System to empower outpatients of diabetes mellitus by means of P4 Medicine.

    PubMed

    Bresó, Adrián; Sáez, Carlos; Vicente, Javier; Larrinaga, Félix; Robles, Montserrat; García-Gómez, Juan Miguel

    2015-01-01

    Diabetes Mellitus (DM) affects hundreds of millions of people worldwide and it imposes a large economic burden on healthcare systems. We present a web patient empowering system (PHSP4) that ensures continuous monitoring and assessment of the health state of patients with DM (type I and II). PHSP4 is a Knowledge-Based Personal Health System (PHS) which follows the trend of P4 Medicine (Personalized, Predictive, Preventive, and Participative). It provides messages to outpatients and clinicians about the achievement of objectives, follow-up, and treatments adjusted to the patient condition. Additionally, it calculates a four-component risk vector of the associated pathologies with DM: Nephropathy, Diabetic retinopathy, Diabetic foot, and Cardiovascular event. The core of the system is a Rule-Based System which Knowledge Base is composed by a set of rules implementing the recommendations of the American Diabetes Association (ADA) (American Diabetes Association: http://www.diabetes.org/ ) clinical guideline. The PHSP4 is designed to be standardized and to facilitate its interoperability by means of terminologies (SNOMED-CT [The International Health Terminology Standards Development Organization: http://www.ihtsdo.org/snomed-ct/ ] and UCUM [The Unified Code for Units of Measure: http://unitsofmeasure.org/ ]), standardized clinical documents (HL7 CDA R2 [Health Level Seven International: http://www.hl7.org/index.cfm ]) for managing Electronic Health Record (EHR). We have evaluated the functionality of the system and its users' acceptance of the system using simulated and real data, and a questionnaire based in the Technology Acceptance Model methodology (TAM). Finally results show the reliability of the system and the high acceptance of clinicians.

  1. Prioritization of anticancer drugs against a cancer using genomic features of cancer cells: A step towards personalized medicine

    PubMed Central

    Gupta, Sudheer; Chaudhary, Kumardeep; Kumar, Rahul; Gautam, Ankur; Nanda, Jagpreet Singh; Dhanda, Sandeep Kumar; Brahmachari, Samir Kumar; Raghava, Gajendra P. S.

    2016-01-01

    In this study, we investigated drug profile of 24 anticancer drugs tested against a large number of cell lines in order to understand the relation between drug resistance and altered genomic features of a cancer cell line. We detected frequent mutations, high expression and high copy number variations of certain genes in both drug resistant cell lines and sensitive cell lines. It was observed that a few drugs, like Panobinostat, are effective against almost all types of cell lines, whereas certain drugs are effective against only a limited type of cell lines. Tissue-specific preference of drugs was also seen where a drug is more effective against cell lines belonging to a specific tissue. Genomic features based models have been developed for each anticancer drug and achieved average correlation between predicted and actual growth inhibition of cell lines in the range of 0.43 to 0.78. We hope, our study will throw light in the field of personalized medicine, particularly in designing patient-specific anticancer drugs. In order to serve the scientific community, a webserver, CancerDP, has been developed for predicting priority/potency of an anticancer drug against a cancer cell line using its genomic features (http://crdd.osdd.net/raghava/cancerdp/). PMID:27030518

  2. The Epital Care Model: A New Person-Centered Model of Technology-Enabled Integrated Care for People With Long Term Conditions

    PubMed Central

    Phanareth, Klaus; Vingtoft, Søren; Christensen, Anders Skovbo; Nielsen, Jakob Sylvest; Svenstrup, Jørgen; Berntsen, Gro Karine Rosvold; Newman, Stanton Peter

    2017-01-01

    Background There is worldwide recognition that the future provision of health care requires a reorganization of provision of care, with increased empowerment and engagement of patients, along with skilled health professionals delivering services that are coordinated across sectors and organizations that provide health care. Technology may be a way to enable the creation of a coherent, cocreative, person-centered method to provide health care for individuals with one or more long-term conditions (LTCs). It remains to be determined how a new care model can be introduced that supports the intentions of the World Health Organization (WHO) to have integrated people-centered care. Objective To design, pilot, and test feasibility of a model of health care for people with LTCs based on a cocreative, iterative, and stepwise process in a way that recognizes the need for person-centered care, and embraces the use of digital technology. Methods The overall research method was inspired by action research and used an agile, iterative approach. In 2012, a living lab was established in a Danish municipality which allowed for the freedom of redesigning health care processes. As the first step, a wide group of stakeholders was gathered to create a layout for the reorganization of services and development of technology, based on established principles for innovative management of people with chronic conditions. The next three steps were (1) a proof of concept in 2012, (2) a pilot study, and (3) a feasibility study from 2013 to 2015, in which a total of 93 chronic obstructive pulmonary disease (COPD) patients were enrolled. Citizens were provided a tablet-based solution for remote follow-up and communication purposes, and access to a 24/7 response and coordination center that coordinated both virtual and face-to-face support for COPD management. In step five the initial model was extended with elements that support continuity of care. Beginning in the autumn of 2013, 1102 frail

  3. Robotics in medicine

    NASA Astrophysics Data System (ADS)

    Kuznetsov, D. N.; Syryamkin, V. I.

    2015-11-01

    Modern technologies play a very important role in our lives. It is hard to imagine how people can get along without personal computers, and companies - without powerful computer centers. Nowadays, many devices make modern medicine more effective. Medicine is developing constantly, so introduction of robots in this sector is a very promising activity. Advances in technology have influenced medicine greatly. Robotic surgery is now actively developing worldwide. Scientists have been carrying out research and practical attempts to create robotic surgeons for more than 20 years, since the mid-80s of the last century. Robotic assistants play an important role in modern medicine. This industry is new enough and is at the early stage of development; despite this, some developments already have worldwide application; they function successfully and bring invaluable help to employees of medical institutions. Today, doctors can perform operations that seemed impossible a few years ago. Such progress in medicine is due to many factors. First, modern operating rooms are equipped with up-to-date equipment, allowing doctors to make operations more accurately and with less risk to the patient. Second, technology has enabled to improve the quality of doctors' training. Various types of robots exist now: assistants, military robots, space, household and medical, of course. Further, we should make a detailed analysis of existing types of robots and their application. The purpose of the article is to illustrate the most popular types of robots used in medicine.

  4. Tradeoffs of Using Administrative Claims and Medical Records to Identify the Use of Personalized Medicine for Patients with Breast Cancer

    PubMed Central

    Liang, Su-Ying; Phillips, Kathryn A.; Wang, Grace; Keohane, Carol; Armstrong, Joanne; Morris, William M.; Haas, Jennifer S.

    2012-01-01

    Background Administrative claims and medical records are important data sources to examine healthcare utilization and outcomes. Little is known about identifying personalized medicine technologies in these sources. Objectives To describe agreement, sensitivity, and specificity of administrative claims compared to medical records for two pairs of targeted tests and treatments for breast cancer. Research Design Retrospective analysis of medical records linked to administrative claims from a large health plan. We examined whether agreement varied by factors that facilitate tracking in claims (coding and cost) and that enhance medical record completeness (records from multiple providers). Subjects Women (35 – 65 years) with incident breast cancer diagnosed in 2006–2007 (n=775). Measures Use of human epidermal growth factor receptor 2 (HER2) and gene expression profiling (GEP) testing, trastuzumab and adjuvant chemotherapy in claims and medical records. Results Agreement between claims and records was substantial for GEP, trastuzumab, and chemotherapy, and lowest for HER2 tests. GEP, an expensive test with unique billing codes, had higher agreement (91.6% vs. 75.2%), sensitivity (94.9% vs. 76.7%), and specificity (90.1% vs. 29.2%) than HER2, a test without unique billing codes. Trastuzumab, a treatment with unique billing codes, had slightly higher agreement (95.1% vs. 90%) and sensitivity (98.1% vs. 87.9%) than adjuvant chemotherapy. Conclusions Higher agreement and specificity were associated with services that had unique billing codes and high cost. Administrative claims may be sufficient for examining services with unique billing codes. Medical records provide better data for identifying tests lacking specific codes and for research requiring detailed clinical information. PMID:21422962

  5. The scope and potentials of functional radionuclide imaging towards advancing personalized medicine in oncology: emphasis on PET-CT.

    PubMed

    Basu, Sandip

    2012-01-01

    Behavioral heterogeneity within a given patient cohort has been a major challenge in clinical practice and is probably most prominently observed in the field of oncology. This has been the prime impetus of the cutting-edge preclinical and clinical research studies over recent times, many of which seek to further stratify patients based on patients' genetic, proteomic, and metabolic profile (the three key components of "-omics" research), in order to select the appropriate therapy according to an individual's best-fit. Data from functional radionuclide imaging particularly that obtained from PET-CT, with regard to characterization of an individual's tumor phenotype, can play a very important role in answering some of the critical decision-making questions on an individual basis. The role of molecular imaging with PET, SPECT, and planar radionuclide technologies is not confined to early response assessment of administered therapeutics (which is its major benefit compared to conventional methods), rather it has a much broader perspective and encompasses multiple steps in decision making steps of patient management. The immense impact of the radionuclide-based molecular imaging techniques on the selection of an appropriate treatment (at initial diagnosis, during therapy, or after therapy) or in defining the tumor biology has been documented and increasingly recognized through both large and small-scale studies. However, there has been relatively less systematic effort towards the development of a successful and definitive clinical model of "personalized cancer medicine" (based on accurate disease triaging on an individual basis) by the medical community that would be suitable for routine adoption. In this paper, an endeavor has been made to explore the potential of this approach and underscore the areas that would require further critical evaluation to make this a reality.

  6. Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment

    PubMed Central

    Zhang, Jinglan; Fedick, Anastasia; Wasserman, Stephanie; Zhao, Geping; Edelmann, Lisa; Bottinger, Erwin P.; Kornreich, Ruth; Scott, Stuart A.

    2017-01-01

    The incidence of chronic kidney disease (CKD) varies by ancestry, with African Americans (AA) having a threefold to fourfold higher rate than whites. Notably, two APOL1 alleles, termed G1 [c.(1072A>G; 1200T>G)] and G2 (c.1212_1217del6), are strongly associated with higher rates of nondiabetic CKD and an increased risk for hypertensive end-stage renal disease. This has prompted the opportunity to implement APOL1 testing to identify at-risk patients and modify other risk factors to reduce the progression of CKD to end-stage renal disease. We developed an APOL1 genotyping assay using multiplex allele-specific primer extension, and validated using 58 positive and negative controls. Genotyping results were completely concordant with Sanger sequencing, and both triplicate interrun and intrarun genotyping results were completely concordant. Multiethnic APOL1 allele frequencies were also determined by genotyping 7059 AA, Hispanic, and Asian individuals from the New York City metropolitan area. The AA, Hispanic, and Asian APOL1 G1 and G2 allele frequencies were 0.22 and 0.13, 0.037 and 0.025, and 0.013 and 0.004, respectively. Notably, approximately 14% of the AA population carried two risk alleles and are at increased risk for CKD, compared with <1% of the Hispanic and Asian populations. This novel APOL1 genotyping assay is robust and highly accurate, and represents one of the first personalized medicine clinical genetic tests for disease risk prediction. PMID:26773863

  7. The new physician as unwitting quantum mechanic: is adapting Dirac's inference system best practice for personalized medicine, genomics, and proteomics?

    PubMed

    Robson, Barry

    2007-08-01

    What is the Best Practice for automated inference in Medical Decision Support for personalized medicine? A known system already exists as Dirac's inference system from quantum mechanics (QM) using bra-kets and bras where A and B are states, events, or measurements representing, say, clinical and biomedical rules. Dirac's system should theoretically be the universal best practice for all inference, though QM is notorious as sometimes leading to bizarre conclusions that appear not to be applicable to the macroscopic world of everyday world human experience and medical practice. It is here argued that this apparent difficulty vanishes if QM is assigned one new multiplication function @, which conserves conditionality appropriately, making QM applicable to classical inference including a quantitative form of the predicate calculus. An alternative interpretation with the same consequences is if every i = radical-1 in Dirac's QM is replaced by h, an entity distinct from 1 and i and arguably a hidden root of 1 such that h2 = 1. With that exception, this paper is thus primarily a review of the application of Dirac's system, by application of linear algebra in the complex domain to help manipulate information about associations and ontology in complicated data. Any combined bra-ket can be shown to be composed only of the sum of QM-like bra and ket weights c(), times an exponential function of Fano's mutual information measure I(A; B) about the association between A and B, that is, an association rule from data mining. With the weights and Fano measure re-expressed as expectations on finite data using Riemann's Incomplete (i.e., Generalized) Zeta Functions, actual counts of observations for real world sparse data can be readily utilized. Finally, the paper compares identical character, distinguishability of states events or measurements, correlation, mutual information, and orthogonal character, important issues in data mining

  8. Personality disorders

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000939.htm Personality disorders To use the sharing features on this page, please enable JavaScript. Personality disorders are a group of mental conditions in ...

  9. Towards personal health care with model-guided medicine: long-term PPPM-related strategies and realisation opportunities within 'Horizon 2020'.

    PubMed

    Lemke, Heinz U; Golubnitschaja, Olga

    2014-01-01

    At the international EPMA Summit carried out in the EU Parliament (September 2013), the main challenges in Predictive, Preventive and Personalised Medicine have been discussed and strategies outlined in order to implement scientific and technological innovation in medicine and healthcare utilising new strategic programmes such as 'Horizon 2020'. The joint EPMA (European Association for Predictive, Preventive and Personalised Medicine) / IFCARS (International Foundation for Computer Assisted Radiology and Surgery) paper emphasises the consolidate position of the leading experts who are aware of the great responsibility of being on a forefront of predictive, preventive and personalised medicine. Both societies consider long-term international partnerships and multidisciplinary projects to create PPPM relevant innovation in science, technological tools and practical implementation in healthcare. Personalisation in healthcare urgently needs innovation in design of PPPM-related medical services, new products, research, education, didactic materials, propagation of targeted prevention in the society and treatments tailored to the person. For the paradigm shift from delayed reactive to predictive, preventive and personalised medicine, a new culture should be created in communication between individual professional domains, between doctor and patient, as well as in communication with individual social (sub)groups and patient cohorts. This is a long-term mission in personalised healthcare with the whole spectrum of instruments available and to be created in the field.

  10. Towards personal health care with model-guided medicine: long-term PPPM-related strategies and realisation opportunities within ‘Horizon 2020’

    PubMed Central

    2014-01-01

    At the international EPMA Summit carried out in the EU Parliament (September 2013), the main challenges in Predictive, Preventive and Personalised Medicine have been discussed and strategies outlined in order to implement scientific and technological innovation in medicine and healthcare utilising new strategic programmes such as ‘Horizon 2020’. The joint EPMA (European Association for Predictive, Preventive and Personalised Medicine) / IFCARS (International Foundation for Computer Assisted Radiology and Surgery) paper emphasises the consolidate position of the leading experts who are aware of the great responsibility of being on a forefront of predictive, preventive and personalised medicine. Both societies consider long-term international partnerships and multidisciplinary projects to create PPPM relevant innovation in science, technological tools and practical implementation in healthcare. Personalisation in healthcare urgently needs innovation in design of PPPM-related medical services, new products, research, education, didactic materials, propagation of targeted prevention in the society and treatments tailored to the person. For the paradigm shift from delayed reactive to predictive, preventive and personalised medicine, a new culture should be created in communication between individual professional domains, between doctor and patient, as well as in communication with individual social (sub)groups and patient cohorts. This is a long-term mission in personalised healthcare with the whole spectrum of instruments available and to be created in the field. PMID:24883142

  11. Current practice in and considerations for personalized medicine in lung cancer: From the patient's molecular biology to patient values and preferences.

    PubMed

    Carrera, Pricivel M; Ormond, Meghann

    2015-09-01

    Both at the individual and health system levels, the burden of complex illnesses associated with and which rise in mid- to later life, such as cancer, is expected to increase further. The advent of personalized medicine, or the use of a patient's genetic profile to guide medical decisions, is touted to substantially improve drug tolerance and efficacy and, in so doing, also improve the effectiveness and efficiency of oncological care. Amidst the hype and hope surrounding personalized cancer care, there is increasing concern about its unnecessary, unintended effects especially with regards to the financial burden of targeted therapies using specialty drugs. In this paper, we take a patient-centered perspective on the therapeutic benefits of personalized medicine as well as the limitations of current practice and its psychological and financial toxicities by focusing on advanced-stage lung cancer. We argue that the modest clinical benefits of targeted therapy, premium prices for many specialty drugs and the narrow focus on the genetic constitution of individual patients run the risk of undercutting personalized lung cancer care's contribution to realizing health and non-health outcomes. We discuss the contribution of grading the financial burden of treatment and seamless integration of palliative care as key action areas regarding patients' access to and appropriateness of care given patients' needs and preferences.

  12. Personalized biochemistry and biophysics.

    PubMed

    Kroncke, Brett M; Vanoye, Carlos G; Meiler, Jens; George, Alfred L; Sanders, Charles R

    2015-04-28

    Whole human genome sequencing of individuals is becoming rapid and inexpensive, enabling new strategies for using personal genome information to help diagnose, treat, and even prevent human disorders for which genetic variations are causative or are known to be risk factors. Many of the exploding number of newly discovered genetic variations alter the structure, function, dynamics, stability, and/or interactions of specific proteins and RNA molecules. Accordingly, there are a host of opportunities for biochemists and biophysicists to participate in (1) developing tools to allow accurate and sometimes medically actionable assessment of the potential pathogenicity of individual variations and (2) establishing the mechanistic linkage between pathogenic variations and their physiological consequences, providing a rational basis for treatment or preventive care. In this review, we provide an overview of these opportunities and their associated challenges in light of the current status of genomic science and personalized medicine, the latter often termed precision medicine.

  13. [SPORT MEDICINE].

    PubMed

    Constantini, Naama; Mann, Gideon

    2016-06-01

    Sports Medicine is a relatively new subject in medicine and includes a variety of medical and paramedical fields. Although sports medicine is mistakenly thought to be mainly for sports professionals/athletes, it actually encompasses the entire population, including the active and non-active healthy populations, as well as the sick. Sports medicine also engages amateur sportsmen and strives to promote physical activity and quality of life in the general population. Hence, the field involves all ages from childhood to old age, aiming to preserve and support every person at every age. Sports medicine, which started developing in the 19th century, is today a specialty, primary or secondary, in many countries, while in others it is a fellowship or under the jurisdiction of local or sports authorities. In Israel, the field exists since the 1950's and is advanced. The Sports Medicine Society founded a 3-year course of continued education in sport medicine as part of the Tel-Aviv University Faculty of Medicine. Later on, a fellowship in general Sports Medicine and in Orthopedic Sports Medicine were developed within the Israel Medical Association. A year ago, Israel formally became a member of the global "Exercise is Medicine" foundation, and under this title promotes education for health care providers on exercise prescription. The understanding of the importance of physical activity and fitness as part of a healthy lifestyle is increasing in Israel, as well as the number of amateur athletes, and the profession of sports medicine takes a big part in this process.

  14. Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 1. Fundamental Concepts in Molecular Genetics

    PubMed Central

    Li, Aihua; Meyre, David

    2014-01-01

    With the decrease in sequencing cost and the rise of companies providing sequencing services, it is likely that personalized whole-genome sequencing will eventually become an instrument of common medical practice. We write this series of three reviews to help non-geneticist clinicians get ready for the major breakthroughs that are likely to occur in the coming years in the fast-moving field of personalized medicine. This first paper focuses on the fundamental concepts of molecular genetics. We review how recombination occurs during meiosis, how de novo genetic variations including single nucleotide polymorphisms (SNPs), insertions and deletions are generated and how they are inherited from one generation to the next. We detail how genetic variants can impact protein expression and function, and summarize the main characteristics of the human genome. We also explain how the achievements of the Human Genome Project, the HapMap Project, and more recently, the 1000 Genomes Project, have boosted the identification of genetic variants contributing to common diseases in human populations. The second and third papers will focus on genetic epidemiology and clinical applications in personalized medicine. PMID:25132812

  15. Viscoelasticity as a measurement of clot structure in poorly controlled type 2 diabetes patients: towards a precision and personalized medicine approach

    PubMed Central

    Pretorius, Etheresia; Bester, Janette

    2016-01-01

    Objectives Type 2 diabetes patients (T2D) have a considerably higher cardiovascularrisk, which is closely associated with systemic inflammation, and an accompanying pathologic coagulation system. Due to the complexity of the diabetic profile, we suggest that we need to look at each patient individually and particularly at his or her clotting profile; as the healthiness of the coagulation system gives us an indication of the success of clinical intervention. Results T2D coagulability varied markedly, although there were no clear difference in medication use and the standards of HbA1c levels. Research design and methods Our sample consisted of 90 poorly controlled T2D and 71 healthy individuals. We investigated the medication use and standards of HbA1c levels of T2D and we used thromboelastography (TEG) and scanning electron microscopy (SEM) to study their clot formation. Conclusion The latest NIH guidelines suggest that clinical medicine should focus on precision medicine, and the current broad understanding is that precision medicine may in future, provide personalized targets for preventative and therapeutic interventions. Here we suggest a practical example where TEG can be used as an easily accessible point-of-care tool to establish a comprehensive clotting profile analysis for T2D patients; and additionally may provide valuable information that may be used in the envisaged precision medicine approach. Only by closely following each individual patient's progress and healthiness and thereby managing systemic inflammation, will we be able to reduce this pandemic. PMID:27447972

  16. Physician Enabling Skills Questionnaire

    PubMed Central

    Hudon, Catherine; Lambert, Mireille; Almirall, José

    2015-01-01

    Abstract Objective To evaluate the reliability and validity of the newly developed Physician Enabling Skills Questionnaire (PESQ) by assessing its internal consistency, test-retest reliability, concurrent validity with patient-centred care, and predictive validity with patient activation and patient enablement. Design Validation study. Setting Saguenay, Que. Participants One hundred patients with at least 1 chronic disease who presented in a waiting room of a regional health centre family medicine unit. Main outcome measures Family physicians’ enabling skills, measured with the PESQ at 2 points in time (ie, while in the waiting room at the family medicine unit and 2 weeks later through a mail survey); patient-centred care, assessed with the Patient Perception of Patient-Centredness instrument; patient activation, assessed with the Patient Activation Measure; and patient enablement, assessed with the Patient Enablement Instrument. Results The internal consistency of the 6 subscales of the PESQ was adequate (Cronbach α = .69 to .92). The test-retest reliability was very good (r = 0.90; 95% CI 0.84 to 0.93). Concurrent validity with the Patient Perception of Patient-Centredness instrument was good (r = −0.67; 95% CI −0.78 to −0.53; P < .001). The PESQ accounts for 11% of the total variance with the Patient Activation Measure (r2 = 0.11; P = .002) and 19% of the variance with the Patient Enablement Instrument (r2 = 0.19; P < .001). Conclusion The newly developed PESQ presents good psychometric properties, allowing for its use in practice and research. PMID:26889507

  17. Thumbnail Sketches: EDTA-Type Chelating Agents in Everyday Consumer Products: Some Medicinal and Personal Care Products.

    ERIC Educational Resources Information Center

    Hart, J. Roger

    1984-01-01

    Discusses various ethylenediaminetetraacetate (EDTA)-type chelating agents found in ophthalmic products, personal care products, and disinfectants. Also discusses the properties and action of these EDTA agents. (JN)

  18. Emerging patient-driven health care models: an examination of health social networks, consumer personalized medicine and quantified self-tracking.

    PubMed

    Swan, Melanie

    2009-02-01

    A new class of patient-driven health care services is emerging to supplement and extend traditional health care delivery models and empower patient self-care. Patient-driven health care can be characterized as having an increased level of information flow, transparency, customization, collaboration and patient choice and responsibility-taking, as well as quantitative, predictive and preventive aspects. The potential exists to both improve traditional health care systems and expand the concept of health care though new services. This paper examines three categories of novel health services: health social networks, consumer personalized medicine and quantified self-tracking.

  19. Emerging Patient-Driven Health Care Models: An Examination of Health Social Networks, Consumer Personalized Medicine and Quantified Self-Tracking

    PubMed Central

    Swan, Melanie

    2009-01-01

    A new class of patient-driven health care services is emerging to supplement and extend traditional health care delivery models and empower patient self-care. Patient-driven health care can be characterized as having an increased level of information flow, transparency, customization, collaboration and patient choice and responsibility-taking, as well as quantitative, predictive and preventive aspects. The potential exists to both improve traditional health care systems and expand the concept of health care though new services. This paper examines three categories of novel health services: health social networks, consumer personalized medicine and quantified self-tracking. PMID:19440396

  20. Deceit and facial expression in children: the enabling role of the "poker face" child and the dependent personality of the detector.

    PubMed

    Gadea, Marien; Aliño, Marta; Espert, Raúl; Salvador, Alicia

    2015-01-01

    This study presents the relation between the facial expression of a group of children when they told a lie and the accuracy in detecting the lie by a sample of adults. To evaluate the intensity and type of emotional content of the children's faces, we applied an automated method capable of analyzing the facial information from the video recordings (FaceReader 5.0 software). The program classified videos as showing a neutral facial expression or an emotional one. There was a significant higher mean of hits for the emotional than for the neutral videos, and a significant negative correlation between the intensity of the neutral expression and the number of hits from the detectors. The lies expressed with emotional facial expression were more easily recognized by adults than the lies expressed with a "poker face"; thus, the less expressive the child the harder it was to guess. The accuracy of the lie detectors was then correlated with their subclinical traits of personality disorders, to find that participants scoring higher in the dependent personality were significantly better lie detectors. A non-significant tendency for women to discriminate better was also found, whereas men tended to be more suspicious than women when judging the children's veracity. This study is the first to automatically decode the facial information of the lying child and relate these results with personality characteristics of the lie detectors in the context of deceptive behavior research. Implications for forensic psychology were suggested: to explore whether the induction of an emotion in a child during an interview could be useful to evaluate the testimony during legal trials.

  1. Deceit and facial expression in children: the enabling role of the “poker face” child and the dependent personality of the detector

    PubMed Central

    Gadea, Marien; Aliño, Marta; Espert, Raúl; Salvador, Alicia

    2015-01-01

    This study presents the relation between the facial expression of a group of children when they told a lie and the accuracy in detecting the lie by a sample of adults. To evaluate the intensity and type of emotional content of the children’s faces, we applied an automated method capable of analyzing the facial information from the video recordings (FaceReader 5.0 software). The program classified videos as showing a neutral facial expression or an emotional one. There was a significant higher mean of hits for the emotional than for the neutral videos, and a significant negative correlation between the intensity of the neutral expression and the number of hits from the detectors. The lies expressed with emotional facial expression were more easily recognized by adults than the lies expressed with a “poker face”; thus, the less expressive the child the harder it was to guess. The accuracy of the lie detectors was then correlated with their subclinical traits of personality disorders, to find that participants scoring higher in the dependent personality were significantly better lie detectors. A non-significant tendency for women to discriminate better was also found, whereas men tended to be more suspicious than women when judging the children’s veracity. This study is the first to automatically decode the facial information of the lying child and relate these results with personality characteristics of the lie detectors in the context of deceptive behavior research. Implications for forensic psychology were suggested: to explore whether the induction of an emotion in a child during an interview could be useful to evaluate the testimony during legal trials. PMID:26284012

  2. Technology-aided programs to enable persons with multiple disabilities to choose among environmental stimuli using a smile or a tongue response.

    PubMed

    Lancioni, Giulio E; Singh, Nirbhay N; O'Reilly, Mark F; Sigafoos, Jeff; Oliva, Doretta; D'Amico, Fiora

    2013-11-01

    Persons with multiple disabilities, including pervasive motor impairment, may have problems controlling even small responses (e.g., vocal emissions, finger movements, or prolonged eyelid closures) within time-sensitive situations, such as those involved in choice programs. Recent research has indicated that smile expressions can be used as functional choice responses for some of these persons. The present two studies were aimed at assessing the smile response for a child with congenital multiple disabilities and a tongue response for a post-coma man who had recovered his consciousness but presented with pervasive multiple disabilities. The first of the two studies represented a research extension (i.e., a new case with a slightly adapted microswitch technology) concerning the smile response, which had recently been evaluated with few other cases. The second study represented a new effort to assess the tongue response within a choice program and for a post-coma man with multiple disabilities. The results showed that the participants used the smile and the tongue responses successfully while they were apparently unsuccessful in using a slight head/chin movement response. Their choice behavior focused reliably on preferred stimuli and avoided non-preferred stimuli. Implications of the results are discussed.

  3. Current and Future Challenges in Point-of-Care Technologies: A Paradigm-Shift in Affordable Global Healthcare With Personalized and Preventive Medicine.

    PubMed

    Dhawan, Atam P; Heetderks, William J; Pavel, Misha; Acharya, Soumyadipta; Akay, Metin; Mairal, Anurag; Wheeler, Bruce; Dacso, Clifford C; Sunder, T; Lovell, Nigel; Gerber, Martin; Shah, Milind; Senthilvel, S G; Wang, May D; Bhargava, Balram

    2015-01-01

    This paper summarizes the panel discussion at the IEEE Engineering in Medicine and Biology Point-of-Care Healthcare Technology Conference (POCHT 2013) held in Bangalore India from Jan 16-18, 2013. Modern medicine has witnessed interdisciplinary technology innovations in healthcare with a continuous growth in life expectancy across the globe. However, there is also a growing global concern on the affordability of rapidly rising healthcare costs. To provide quality healthcare at reasonable costs, there has to be a convergence of preventive, personalized, and precision medicine with the help of technology innovations across the entire spectrum of point-of-care (POC) to critical care at hospitals. The first IEEE EMBS Special Topic POCHT conference held in Bangalore, India provided an international forum with clinicians, healthcare providers, industry experts, innovators, researchers, and students to define clinical needs and technology solutions toward commercialization and translation to clinical applications across different environments and infrastructures. This paper presents a summary of discussions that took place during the keynote presentations, panel discussions, and breakout sessions on needs, challenges, and technology innovations in POC technologies toward improving global healthcare. Also presented is an overview of challenges and trends in developing and developed economies with respect to priority clinical needs, technology innovations in medical devices, translational engineering, information and communication technologies, infrastructure support, and patient and clinician acceptance of POC healthcare technologies.

  4. Current and Future Challenges in Point-of-Care Technologies: A Paradigm-Shift in Affordable Global Healthcare With Personalized and Preventive Medicine

    PubMed Central

    Heetderks, William J.; Pavel, Misha; Acharya, Soumyadipta; Akay, Metin; Mairal, Anurag; Wheeler, Bruce; Dacso, Clifford C.; Sunder, T.; Lovell, Nigel; Gerber, Martin; Shah, Milind; Senthilvel, S. G.; Wang, May D.; Bhargava, Balram

    2015-01-01

    This paper summarizes the panel discussion at the IEEE Engineering in Medicine and Biology Point-of-Care Healthcare Technology Conference (POCHT 2013) held in Bangalore India from Jan 16–18, 2013. Modern medicine has witnessed interdisciplinary technology innovations in healthcare with a continuous growth in life expectancy across the globe. However, there is also a growing global concern on the affordability of rapidly rising healthcare costs. To provide quality healthcare at reasonable costs, there has to be a convergence of preventive, personalized, and precision medicine with the help of technology innovations across the entire spectrum of point-of-care (POC) to critical care at hospitals. The first IEEE EMBS Special Topic POCHT conference held in Bangalore, India provided an international forum with clinicians, healthcare providers, industry experts, innovators, researchers, and students to define clinical needs and technology solutions toward commercialization and translation to clinical applications across different environments and infrastructures. This paper presents a summary of discussions that took place during the keynote presentations, panel discussions, and breakout sessions on needs, challenges, and technology innovations in POC technologies toward improving global healthcare. Also presented is an overview of challenges and trends in developing and developed economies with respect to priority clinical needs, technology innovations in medical devices, translational engineering, information and communication technologies, infrastructure support, and patient and clinician acceptance of POC healthcare technologies. PMID:27170902

  5. Bernard Lerer: Recipient of the 2014 Inaugural Werner Kalow Responsible Innovation Prize in Global Omics and Personalized Medicine (Pacific Rim Association for Clinical Pharmacogenetics)

    PubMed Central

    Aynacıoğlu, Şükrü; Bragazzi, Nicola Luigi; Dandara, Collet; Dove, Edward S.; Ferguson, Lynnette R.; Geraci, Christy Jo; Hafen, Ernst; Kesim, Belgin Eroğlu; Kolker, Eugene; Lee, Edmund J.D.; LLerena, Adrian; Nacak, Muradiye; Shimoda, Kazutaka; Someya, Toshiyuki; Srivastava, Sanjeeva; Tomlinson, Brian; Vayena, Effy; Warnich, Louise; Yaşar, Ümit

    2014-01-01

    Abstract This article announces the recipient of the 2014 inaugural Werner Kalow Responsible Innovation Prize in Global Omics and Personalized Medicine by the Pacific Rim Association for Clinical Pharmacogenetics (PRACP): Bernard Lerer, professor of psychiatry and director of the Biological Psychiatry Laboratory, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. The Werner Kalow Responsible Innovation Prize is given to an exceptional interdisciplinary scholar who has made highly innovative and enduring contributions to global omics science and personalized medicine, with both vertical and horizontal (transdisciplinary) impacts. The prize is established in memory of a beloved colleague, mentor, and friend, the late Professor Werner Kalow, who cultivated the idea and practice of pharmacogenetics in modern therapeutics commencing in the 1950s. PRACP, the prize's sponsor, is one of the longest standing learned societies in the Asia-Pacific region, and was founded by Kalow and colleagues more than two decades ago in the then-emerging field of pharmacogenetics. In announcing this inaugural prize and its winner, we seek to highlight the works of prize winner, Professor Lerer. Additionally, we contextualize the significance of the prize by recalling the life and works of Professor Kalow and providing a brief socio-technical history of the rise of pharmacogenetics and personalized medicine as a veritable form of 21st century scientific practice. The article also fills a void in previous social science analyses of pharmacogenetics, by bringing to the fore the works of Kalow from 1995 to 2008, when he presciently noted the rise of yet another field of postgenomics inquiry—pharmacoepigenetics—that railed against genetic determinism and underscored the temporal and spatial plasticity of genetic components of drug response, with invention of the repeated drug administration (RDA) method that estimates the dynamic heritabilities of drug response. The prize goes a

  6. 4Ps medicine of the fatty liver: the research model of predictive, preventive, personalized and participatory medicine-recommendations for facing obesity, fatty liver and fibrosis epidemics.

    PubMed

    Trovato, Francesca Maria; Catalano, Daniela; Musumeci, Giuseppe; Trovato, Guglielmo M

    2014-01-01

    Relationship between adipose tissue and fatty liver, and its possible evolution in fibrosis, is supported by clinical and research experience. Given the multifactorial pathogenesis of non-alcoholic fatty liver disease (NAFLD), treatments for various contributory risk factors have been proposed; however, there is no single validated therapy or drug association recommended for all cases which can stand alone. Mechanisms, diagnostics, prevention and treatment of obesity, fatty liver and insulin resistance are displayed along with recommendations and position points. Evidences and practice can get sustainable and cost-benefit valuable outcomes by participatory interventions. These recommendations can be enhanced by comprehensive research projects, addressed to societal issues and innovation, market appeal and industry development, cultural acceptance and sustainability. The basis of participatory medicine is a greater widespread awareness of a condition which is both a disease and an easy documented and inclusive clue for associated diseases and unhealthy lifestyle. This model is suitable for addressing prevention and useful for monitoring improvement, worsening and adherence with non-invasive imaging tools which allow targeted approaches. The latter include health psychology and nutritional and physical exercise prescription expertise disseminated by continuous medical education but, more important, by concrete curricula for training undergraduate and postgraduate students. It is possible and recommended to do it by early formal teaching of ultrasound imaging procedures and of practical lifestyle intervention strategies, including approaches aimed to healthier fashion suggestions. Guidelines and requirements of research project funding calls should be addressed also to NAFLD and allied conditions and should encompass the goal of training by research and the inclusion of participatory medicine topics. A deeper awareness of ethics of competences in health professionals

  7. 2K09 and thereafter : the coming era of integrative bioinformatics, systems biology and intelligent computing for functional genomics and personalized medicine research.

    PubMed

    Yang, Jack Y; Niemierko, Andrzej; Bajcsy, Ruzena; Xu, Dong; Athey, Brian D; Zhang, Aidong; Ersoy, Okan K; Li, Guo-Zheng; Borodovsky, Mark; Zhang, Joe C; Arabnia, Hamid R; Deng, Youping; Dunker, A Keith; Liu, Yunlong; Ghafoor, Arif

    2010-12-01

    Significant interest exists in establishing synergistic research in bioinformatics, systems biology and intelligent computing. Supported by the United States National Science Foundation (NSF), International Society of Intelligent Biological Medicine (http://www.ISIBM.org), International Journal of Computational Biology and Drug Design (IJCBDD) and International Journal of Functional Informatics and Personalized Medicine, the ISIBM International Joint Conferences on Bioinformatics, Systems Biology and Intelligent Computing (ISIBM IJCBS 2009) attracted more than 300 papers and 400 researchers and medical doctors world-wide. It was the only inter/multidisciplinary conference aimed to promote synergistic research and education in bioinformatics, systems biology and intelligent computing. The conference committee was very grateful for the valuable advice and suggestions from honorary chairs, steering committee members and scientific leaders including Dr. Michael S. Waterman (USC, Member of United States National Academy of Sciences), Dr. Chih-Ming Ho (UCLA, Member of United States National Academy of Engineering and Academician of Academia Sinica), Dr. Wing H. Wong (Stanford, Member of United States National Academy of Sciences), Dr. Ruzena Bajcsy (UC Berkeley, Member of United States National Academy of Engineering and Member of United States Institute of Medicine of the National Academies), Dr. Mary Qu Yang (United States National Institutes of Health and Oak Ridge, DOE), Dr. Andrzej Niemierko (Harvard), Dr. A. Keith Dunker (Indiana), Dr. Brian D. Athey (Michigan), Dr. Weida Tong (FDA, United States Department of Health and Human Services), Dr. Cathy H. Wu (Georgetown), Dr. Dong Xu (Missouri), Drs. Arif Ghafoor and Okan K Ersoy (Purdue), Dr. Mark Borodovsky (Georgia Tech, President of ISIBM), Dr. Hamid R. Arabnia (UGA, Vice-President of ISIBM), and other scientific leaders. The committee presented the 2009 ISIBM Outstanding Achievement Awards to Dr. Joydeep Ghosh (UT

  8. 2K09 and thereafter : the coming era of integrative bioinformatics, systems biology and intelligent computing for functional genomics and personalized medicine research

    PubMed Central

    2010-01-01

    Significant interest exists in establishing synergistic research in bioinformatics, systems biology and intelligent computing. Supported by the United States National Science Foundation (NSF), International Society of Intelligent Biological Medicine (http://www.ISIBM.org), International Journal of Computational Biology and Drug Design (IJCBDD) and International Journal of Functional Informatics and Personalized Medicine, the ISIBM International Joint Conferences on Bioinformatics, Systems Biology and Intelligent Computing (ISIBM IJCBS 2009) attracted more than 300 papers and 400 researchers and medical doctors world-wide. It was the only inter/multidisciplinary conference aimed to promote synergistic research and education in bioinformatics, systems biology and intelligent computing. The conference committee was very grateful for the valuable advice and suggestions from honorary chairs, steering committee members and scientific leaders including Dr. Michael S. Waterman (USC, Member of United States National Academy of Sciences), Dr. Chih-Ming Ho (UCLA, Member of United States National Academy of Engineering and Academician of Academia Sinica), Dr. Wing H. Wong (Stanford, Member of United States National Academy of Sciences), Dr. Ruzena Bajcsy (UC Berkeley, Member of United States National Academy of Engineering and Member of United States Institute of Medicine of the National Academies), Dr. Mary Qu Yang (United States National Institutes of Health and Oak Ridge, DOE), Dr. Andrzej Niemierko (Harvard), Dr. A. Keith Dunker (Indiana), Dr. Brian D. Athey (Michigan), Dr. Weida Tong (FDA, United States Department of Health and Human Services), Dr. Cathy H. Wu (Georgetown), Dr. Dong Xu (Missouri), Drs. Arif Ghafoor and Okan K Ersoy (Purdue), Dr. Mark Borodovsky (Georgia Tech, President of ISIBM), Dr. Hamid R. Arabnia (UGA, Vice-President of ISIBM), and other scientific leaders. The committee presented the 2009 ISIBM Outstanding Achievement Awards to Dr. Joydeep Ghosh (UT

  9. The research agenda for general practice/family medicine and primary health care in Europe. Part 3. Results: person centred care, comprehensive and holistic approach.

    PubMed

    Van Royen, Paul; Beyer, Martin; Chevallier, Patrick; Eilat-Tsanani, Sophia; Lionis, Christos; Peremans, Lieve; Petek, Davorina; Rurik, Imre; Soler, Jean Karl; Stoffers, Henri E J H; Topsever, Pinar; Ungan, Mehmet; Hummers-Pradier, Eva

    2010-06-01

    The recently published 'Research Agenda for General Practice/Family Medicine and Primary Health Care in Europe' summarizes the evidence relating to the core competencies and characteristics of the Wonca Europe definition of GP/FM, and its implications for general practitioners/family doctors, researchers and policy makers. The European Journal of General Practice publishes a series of articles based on this document. In a first article, background, objectives, and methodology were discussed. In a second article, the results for the two core competencies 'primary care management' and 'community orientation' were presented. This article reflects on the three core competencies, which deal with person related aspects of GP/FM, i.e. 'person centred care', 'comprehensive approach' and 'holistic approach'. Though there is an important body of opinion papers and (non-systematic) reviews, all person related aspects remain poorly defined and researched. Validated instruments to measure these competencies are lacking. Concerning patient-centredness, most research examined patient and doctor preferences and experiences. Studies on comprehensiveness mostly focus on prevention/care of specific diseases. For all domains, there has been limited research conducted on its implications or outcomes.

  10. Taking Bioinformatics to Systems Medicine.

    PubMed

    van Kampen, Antoine H C; Moerland, Perry D

    2016-01-01

    Systems medicine promotes a range of approaches and strategies to study human health and disease at a systems level with the aim of improving the overall well-being of (healthy) individuals, and preventing, diagnosing, or curing disease. In this chapter we discuss how bioinformatics critically contributes to systems medicine. First, we explain the role of bioinformatics in the management and analysis of data. In particular we show the importance of publicly available biological and clinical repositories to support systems medicine studies. Second, we discuss how the integration and analysis of multiple types of omics data through integrative bioinformatics may facilitate the determination of more predictive and robust disease signatures, lead to a better understanding of (patho)physiological molecular mechanisms, and facilitate personalized medicine. Third, we focus on network analysis and discuss how gene networks can be constructed from omics data and how these networks can be decomposed into smaller modules. We discuss how the resulting modules can be used to generate experimentally testable hypotheses, provide insight into disease mechanisms, and lead to predictive models. Throughout, we provide several examples demonstrating how bioinformatics contributes to systems medicine and discuss future challenges in bioinformatics that need to be addressed to enable the advancement of systems medicine.

  11. Community-owned resource persons for malaria vector control: enabling factors and challenges in an operational programme in Dar es Salaam, United Republic of Tanzania

    PubMed Central

    2011-01-01

    Background Community participation in vector control and health services in general is of great interest to public health practitioners in developing countries, but remains complex and poorly understood. The Urban Malaria Control Program (UMCP) in Dar es Salaam, United Republic of Tanzania, implements larval control of malaria vector mosquitoes. The UMCP delegates responsibility for routine mosquito control and surveillance to community-owned resource persons (CORPs), recruited from within local communities via the elected local government. Methods A mixed method, cross-sectional survey assessed the ability of CORPs to detect mosquito breeding sites and larvae, and investigated demographic characteristics of the CORPs, their reasons for participating in the UMCP, and their work performance. Detection coverage was estimated as the proportion of wet habitats found by the investigator which had been reported by CORP. Detection sensitivity was estimated as the proportion of wet habitats found by the CORPS which the investigator found to contain Anopheles larvae that were also reported to be occupied by the CORP. Results The CORPs themselves perceived their role as professional rather than voluntary, with participation being a de facto form of employment. Habitat detection coverage was lower among CORPs that were recruited through the program administrative staff, compared to CORPs recruited by local government officials or health committees (Odds Ratio = 0.660, 95% confidence interval = [0.438, 0.995], P = 0.047). Staff living within their areas of responsibility had > 70% higher detection sensitivity for both Anopheline (P = 0.016) and Culicine (P = 0.012): positive habitats compared to those living outside those same areas. Discussion and conclusions Improved employment conditions as well as involving the local health committees in recruiting individual program staff, communication and community engagement skills are required to optimize achieving effective community

  12. [Sport medicine].

    PubMed

    Epstein, Yoram

    2012-02-01

    It is only since the late 20th century that Sport and Exercise Medicine has emerged as a distinct entity in health care. In Israel, sports medicine is regulated by a State Law and a sport physician is certified after graduating a structured program. In the past, sports medicine was related to the diagnosis and treatment of injuries encountered by top athletes. In recent years, the scope of sport medicine has broadened to reflect the awareness of modern society of the dangers of physical inactivity. In this perspective the American College of Sport Medicine (ACSM) recently launched a program--"Exercise is Medicine", to promote physical activity in order to improve health and well-being and prevention of diseases through physical activity prescriptions. This program is from doctors and healthcare providers, adjusted to the patient or trainee. The sport physician does not replace a medical specialist, but having a thorough understanding about the etiology of a sport-related injury enables him to better focus on treatment and prevention. Therefore, Team Physicians in Elite Sport often play a role regarding not only the medical care of athletes, but also in the physiological monitoring of the athlete and correcting aberrations, to achieve peak physical performance. The broad spectrum of issues in sport and exercise medicine cannot be completely covered in one issue of the Journal. Therefore, the few reports that are presented to enhance interest and understanding in the broad spectrum of issues in sports and exercise medicine are only the tip of the iceberg.

  13. Genomic messaging system and DNA mark-up language for information-based personalized medicine with clinical and proteome research applications.

    PubMed

    Robson, Barry; Mushlin, Richard

    2004-01-01

    The convergence of clinical medicine and the Life Sciences, commencing with opportunities in clinical trials and clinically linked medical research, presents many novel challenges. The Genomic Messaging System (GMS) described here was originally developed as a tool for assembling clinical genomic records of individual and collective patients, and was then generalized to become a flexible workflow component that will link clinical records to a variety of computational biology research tools, for research and ultimately for a more personalized, focused, and preventative healthcare system. Prominent among the applications linked are protein science applications, including the rapid automated modeling of patient proteins with their individual structural polymorphisms. In an initial study, GMS formed the basis of a fully automated system for modeling patient proteins with structural polymorphisms as a basis for drug selection and ultimately design on an individual patient basis.

  14. Health-care seeking behaviour and the use of traditional medicine among persons with type 2 diabetes in south-western Uganda: a study of focus group interviews

    PubMed Central

    Atwine, Fortunate; Hultsjö, Sally; Albin, Björn; Hjelm, Katarina

    2015-01-01

    Introduction Health-care seeking behaviour is important as it determines acceptance of health care and outcomes of chronic conditions but it has been investigated to a limited extent among persons with diabetes in developing countries. The aim of the study was to explore health-care seeking behaviour among persons with type 2 diabetes to understand reasons for using therapies offered by traditional healers. Methods Descriptive study using focus-group interviews. Three purposive focus-groups were conducted in 2011 of 10 women and 7 men aged 39–72 years in Uganda. Data were collected through semi-structured interviews and qualitatively analysed according to a method described for focus-groups. Results Reasons for seeking help from traditional healers were symptoms related to diabetes such as polydipsia, fatigue and decreased sensitivity in lower limbs. Failure of effect from western medicine was also reported. Treatment was described to be unknown extracts, of locally made products taken as herbs or food, and participants had sought help from different health facilities with the help of relatives and friends. Conclusion The pattern of seeking care was inconsistent, with a switch between different health care providers under the influence of the popular and folk sectors. Despite beliefs in using different healthcare providers seeking complementary and alternative medicine, participants still experienced many physical health problems related to diabetes complications. Health professionals need to be aware of the risk of switches between different health care providers, and develop strategies to initiate health promotion interventions to include in the care actors of significance to the patient from the popular, folk and professional sectors, to maintain continuity of effective diabetes care. PMID:26090034

  15. Globalization of P4 medicine: predictive, personalized, preemptive, and participatory--summary of the proceedings of the Eighth International Symposium of the International Society for Strategic Studies in Radiology, August 27-29, 2009.

    PubMed

    Bradley, William G; Golding, Stephen G; Herold, Christian J; Hricak, Hedvig; Krestin, Gabriel P; Lewin, Jonathan S; Miller, Janet C; Ringertz, Hans G; Thrall, James H

    2011-02-01

    In August 2009, the International Society for Strategic Studies in Radiology held its eighth biennial meeting. The program focused on the globalization of predictive medicine--or P4 medicine--as it relates to the practice of radiology and radiology research. P4 medicine refers to predictive, personalized, preemptive, and participatory medicine and was the inspiration of Elias Zerhouni, MD, former director of the National Institutes of Health. This article is a summary of some of the key concepts presented at the meeting by an international group of radiologists, imaging scientists, and leaders of industry. In predictive medicine, imaging and imaging-related technologies will likely play an increasing role in the early detection of disease and, thus, the preemption of the development of advanced, hard-to-treat disease. Research into systems biology and molecular imaging promises to personalize medicine, facilitating the provision of the right care to the right patient at the right time. In participatory medicine, increasing interactions with referring physicians and patients will be helpful in raising awareness and recognition of the role of radiologists and will have a positive effect on professionalism. There is also a need to increase awareness of the vital role of radiologists as imaging and radiation safety experts who evaluate the necessity and appropriateness of examinations, monitor performance quality, and are available for postexamination consultations.

  16. Role of the pulmonologist in ordering post-procedure molecular markers in non-small-cell lung cancer: implications for personalized medicine.

    PubMed

    Murgu, Septimiu; Colt, Henri

    2013-11-01

    In the growing era of personalized medicine for the treatment of non-small-cell lung cancer (NSCLC), it is becoming increasingly important that sufficient quality and quantity of tumor tissue are available for morphologic diagnosis and molecular analysis. As new treatment options emerge that might require more frequent and possibly higher volume biopsies, the role of the pulmonologist will expand, and it will be important for pulmonologists to work within a multidisciplinary team to provide optimal therapeutic management for patients with NSCLC. In this review, we discuss the rationale for individualized treatment decisions for patients with NSCLC, molecular pathways and specific molecular predictors relevant to personalized NSCLC therapy, assay technologies for molecular marker analysis, and specifics regarding tumor specimen selection, acquisition, and handling. Moreover, we briefly address issues regarding racial and socioeconomic disparities as they relate to molecular testing and treatment decisions, and cost considerations for molecular testing and targeted therapies in NSCLC. We also propose a model for an institution-based multidisciplinary team, including oncologists, pathologists, pulmonologists, interventional radiologists, and thoracic surgeons, to ensure adequate material is available for cytological and histological studies and to standardize methods of tumor specimen handling and processing in an effort to provide beneficial, individualized therapy for patients with NSCLC.

  17. Why the Shift? Taking a Closer Look at the Growing Interest in Niche Markets and Personalized Medicine

    PubMed Central

    Gibson, Shannon; Raziee, Hamid R; Lemmens, Trudo

    2015-01-01

    Pharmaceutical research and development is increasingly focused on niche markets, most notably treatments for rare diseases and “personalized” medicine. Drawing on the results of a qualitative study of 34 key Canadian stakeholders (including drug regulators, funders, scientists, policy experts, pharmaceutical industry representatives, and patient advocates), we explore the major trends that are reportedly contributing to the growing interest of the pharmaceutical industry in niche markets. Informed by both these key informant interviews and a review of the relevant literature, our paper provides a critical analysis of the many different—and sometimes conflicting—views on the reasons for and extent of the shift toward niche markets. We consider some of the potential advantages to industry, as well the important implications and risks that arise from the increasing pursuit of niche markets and pharmacogenomics. While there are many potential benefits associated with targeted therapies and drug development for historically neglected rare diseases, niche market therapies also present evidentiary challenges (e.g., smaller clinical trials and enrichment strategies) that can make approval decisions difficult, and uncertainties remain around the true benefits of many therapies. PMID:25914853

  18. SU-E-P-26: Oncospace: A Shared Radiation Oncology Database System Designed for Personalized Medicine, Decision Support, and Research

    SciTech Connect

    Bowers, M; Robertson, S; Moore, J; Wong, J; DeWeese, T; McNutt, T; Phillips, M; Hendrickson, K; Song, W; Kwok, P

    2015-06-15

    Purpose: Advancement in Radiation Oncology (RO) practice develops through evidence based medicine and clinical trial. Knowledge usable for treatment planning, decision support and research is contained in our clinical data, stored in an Oncospace database. This data store and the tools for populating and analyzing it are compatible with standard RO practice and are shared with collaborating institutions. The question is - what protocol for system development and data sharing within an Oncospace Consortium? We focus our example on the technology and data meaning necessary to share across the Consortium. Methods: Oncospace consists of a database schema, planning and outcome data import and web based analysis tools.1) Database: The Consortium implements a federated data store; each member collects and maintains its own data within an Oncospace schema. For privacy, PHI is contained within a single table, accessible to the database owner.2) Import: Spatial dose data from treatment plans (Pinnacle or DICOM) is imported via Oncolink. Treatment outcomes are imported from an OIS (MOSAIQ).3) Analysis: JHU has built a number of webpages to answer analysis questions. Oncospace data can also be analyzed via MATLAB or SAS queries.These materials are available to Consortium members, who contribute enhancements and improvements. Results: 1) The Oncospace Consortium now consists of RO centers at JHU, UVA, UW and the University of Toronto. These members have successfully installed and populated Oncospace databases with over 1000 patients collectively.2) Members contributing code and getting updates via SVN repository. Errors are reported and tracked via Redmine. Teleconferences include strategizing design and code reviews.3) Successfully remotely queried federated databases to combine multiple institutions’ DVH data for dose-toxicity analysis (see below – data combined from JHU and UW Oncospace). Conclusion: RO data sharing can and has been effected according to the Oncospace

  19. Assessment of personal occupational radiation exposures received by nuclear medicine and oncology staff in Punjab (2003-2012).

    PubMed

    Zafar, T; Masood, K; Zafar, J

    2015-09-01

    The impact of occupational radiation exposures on oncology staff working in the disciplines of Nuclear Medicine (NM), Radiotherapy (RT), and Diagnostic Radiology (DR) is of significance to ensure a health risk free environment. In this study, occupationally received radiation doses amongst Pakistani oncology staff in NM, RT and DR during the period (2003-2012) were assessed. The Film Badge Dosimetry (FBD) technique has been utilized to process over 81,000 films (13,237 workers) concerning the occupationally exposed workers data (2003-2012) at a national scale. The annual effective doses were found to range between 0.30-0.97 mSv for NM, 0.44-1.02 mSv for RT and 0.31-1.09 mSv for DR. The annual effective doses averaged over a period of 10 years were assessed to be 0.63, 0.70 and 0.68 mSv for NM, RT and DR respectively. The exposure data were categorized into three exposure levels (≤0.99, 1-4.99 and 5-9.99 mSv) to establish the staff distribution in these categories. It was found that 89.8-96% in NM, 82-94.5% in RT and 76-96.8% staff workers in DR have received doses within the range from the Minimum Detectable Limit (MDL)--0.99 mSv. The annual effective doses, in all categories, were measured to be less than the recommended annual limit of 20 mSv.

  20. Ovarian Cancer: Prevention, Detection and Treatment of the Disease and Its Recurrence. Molecular Mechanisms and Personalized Medicine Meeting Report

    PubMed Central

    Modugno, Francesmary; Edwards, Robert P.

    2012-01-01

    Objective To review the current understanding of the underlying molecular, biologic and genetic mechanisms involved in ovarian cancer development and how these mechanisms can be targets for prevention, detection and treatment of the disease and its recurrence. Methods In May 2012, we convened a meeting of researchers, clinicians and consumer advocates to review the state of current knowledge on molecular mechanisms and identify fruitful areas for further investigations. Results The meeting consisted of seven scientific sessions, ranging from Epidemiology, Early Detection, and Biology to Therapeutics and Quality of Life. Sessions consisted of talks and panel discussions by international leaders in ovarian cancer research. A special career-development session by the CDMRP Department of Defense Ovarian Cancer Academy as well as an oral abstract and poster session showcased promising new research by junior scientists. Conclusions Technological advances in the last decade have increased our knowledge of the molecular mechanisms involved in a host of biological activities related to ovarian cancer. Understanding the role these mechanisms play in cancer initiation and progression will help lead to the development of prevention and treatment modalities that can be personalized to each patient, thereby helping to overcome this highly-fatal malignancy. PMID:23013733

  1. Personalization of the Immunosuppressive Treatment in Renal Transplant Recipients: The Great Challenge in “Omics” Medicine

    PubMed Central

    Zaza, Gianluigi; Granata, Simona; Tomei, Paola; Dalla Gassa, Alessandra; Lupo, Antonio

    2015-01-01

    Renal transplantation represents the most favorable treatment for patients with advanced renal failure and it is followed, in most cases, by a significant enhancement in patients’ quality of life. Significant improvements in one-year renal allograft and patients’ survival rates have been achieved over the last 10 years primarily as a result of newer immunosuppressive regimens. Despite these notable achievements in the short-term outcome, long-term graft function and survival rates remain less than optimal. Death with a functioning graft and chronic allograft dysfunction result in an annual rate of 3%–5%. In this context, drug toxicity and long-term chronic adverse effects of immunosuppressive medications have a pivotal role. Unfortunately, at the moment, except for the evaluation of trough drug levels, no clinically useful tools are available to correctly manage immunosuppressive therapy. The proper use of these drugs could potentiate therapeutic effects minimizing adverse drug reactions. For this purpose, in the future, “omics” techniques could represent powerful tools that may be employed in clinical practice to routinely aid the personalization of drug treatment according to each patient’s genetic makeup. However, it is unquestionable that additional studies and technological advances are needed to standardize and simplify these methodologies. PMID:25690039

  2. Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.

    PubMed

    O'Donnell, Christopher J; Nabel, Elizabeth G

    2008-10-01

    The inaugural issue of Circulation: Cardiovascular Genetics arrives at a remarkable time in the history of genetic research and cardiovascular medicine. Despite tremendous progress in knowledge gained, cardiovascular disease(CVD) remains the leading cause of death in the United States,1 and it has overcome infectious diseases as the leading cause of death worldwide.2 In addition, rates of CVD remain higher in black and Hispanic populations in the United States.1 The recent Strategic Plan of the National Heart, Lung,and Blood Institute (NHLBI) emphasizes research areas to fill the significant knowledge gaps needed to improve the diagnosis,treatment, and control of known risk factors and clinically apparent disease. Simultaneously, the NHLBI Strategic Plan recognizes a tremendous opportunity that is available for use of genetic and genomic research to generate new knowledge that might reduce the morbidity and mortality from CVD in US populations.3 Public availability of vast amounts of detailed sequence information about the human genome, completed sequence data on dozens of other animal genomes, and private sector development of high-throughput genetic technologies has transformed in a few short years the conduct of cardiovascular genetics and genomics research from a primary focus on mendelian disorders to a current emphasis on genome-wide association studies (GWAS; Figure1). In this review, we describe the rationale for the current emphasis on large-scale genomic studies, summarize the evolving approaches and progress to date, and identify immediate-term research needs. The National Institutes of Health (NIH) and the NHLBI are supporting a portfolio of large-scale genetic and genomic programs in diverse US populations with the longer-term objective of translating knowledge into the prediction, prevention, and preemption of CVD, as well as lung, sleep, and blood disorders. Underlying this portfolio is a strong commitment to make available participant-level data and

  3. Precision medicine and molecular imaging: new targeted approaches toward cancer therapeutic and diagnosis

    PubMed Central

    Ghasemi, Mojtaba; Nabipour, Iraj; Omrani, Abdolmajid; Alipour, Zeinab; Assadi, Majid

    2016-01-01

    This paper presents a review of the importance and role of precision medicine and molecular imaging technologies in cancer diagnosis with therapeutics and diagnostics purposes. Precision medicine is progressively becoming a hot topic in all disciplines related to biomedical investigation and has the capacity to become the paradigm for clinical practice. The future of medicine lies in early diagnosis and individually appropriate treatments, a concept that has been named precision medicine, i.e. delivering the right treatment to the right patient at the right time. Molecular imaging is quickly being recognized as a tool with the potential to ameliorate every aspect of cancer treatment. On the other hand, emerging high-throughput technologies such as omics techniques and systems approaches have generated a paradigm shift for biological systems in advanced life science research. In this review, we describe the precision medicine, difference between precision medicine and personalized medicine, precision medicine initiative, systems biology/medicine approaches (such as genomics, radiogenomics, transcriptomics, proteomics, and metabolomics), P4 medicine, relationship between systems biology/medicine approaches and precision medicine, and molecular imaging modalities and their utility in cancer treatment and diagnosis. Accordingly, the precision medicine and molecular imaging will enable us to accelerate and improve cancer management in future medicine. PMID:28078184

  4. Precision medicine and molecular imaging: new targeted approaches toward cancer therapeutic and diagnosis.

    PubMed

    Ghasemi, Mojtaba; Nabipour, Iraj; Omrani, Abdolmajid; Alipour, Zeinab; Assadi, Majid

    2016-01-01

    This paper presents a review of the importance and role of precision medicine and molecular imaging technologies in cancer diagnosis with therapeutics and diagnostics purposes. Precision medicine is progressively becoming a hot topic in all disciplines related to biomedical investigation and has the capacity to become the paradigm for clinical practice. The future of medicine lies in early diagnosis and individually appropriate treatments, a concept that has been named precision medicine, i.e. delivering the right treatment to the right patient at the right time. Molecular imaging is quickly being recognized as a tool with the potential to ameliorate every aspect of cancer treatment. On the other hand, emerging high-throughput technologies such as omics techniques and systems approaches have generated a paradigm shift for biological systems in advanced life science research. In this review, we describe the precision medicine, difference between precision medicine and personalized medicine, precision medicine initiative, systems biology/medicine approaches (such as genomics, radiogenomics, transcriptomics, proteomics, and metabolomics), P4 medicine, relationship between systems biology/medicine approaches and precision medicine, and molecular imaging modalities and their utility in cancer treatment and diagnosis. Accordingly, the precision medicine and molecular imaging will enable us to accelerate and improve cancer management in future medicine.

  5. Health need and the use of alternative medicine among adults who do not use conventional medicine

    PubMed Central

    2010-01-01

    Background We hypothesize that a substantial portion of individuals who forgo conventional care in a given year turn to some form of alternative medicine. This study also examines whether individuals who use only alternative medicine will differ substantially in health and sociodemographic status from individuals using neither alternative medicine nor conventional care in a given year. To identify those factors that predict alternative medicine use in those not using conventional care, we employed the socio-behavioral model of healthcare utilization. Methods The current study is a cross-sectional regression analysis using data from the 2002 National Health Interview Survey. Data were collected in-person from 31,044 adults throughout the 50 states and the District of Columbia. Results 19.3% of adults (38.3 million) did not use conventional care in a 12 month period, although 39.5% of these individuals (14.7 million) reported having one or more problems with their health. Of those not using conventional care, 24.8% (9.5 million) used alternative medicine. Users of alternative medicine had more health needs and were more likely to delay conventional care because of both cost and non-cost factors compared to those not using alternative medicine. While individual predisposing factors (gender, education) were positively associated with alternative medicine use, enabling factors (poverty status, insurance coverage) were not. Conclusions We found that a quarter of individuals who forgo conventional care in a given year turn towards alternative medicine. Our study suggests that the potential determinants of using only alternative medicine are multifactorial. Future research is needed to examine the decision process behind an individual's choice to use alternative medicine but not conventional medicine and the clinical outcomes of this choice. PMID:20670418

  6. Morphological and functional MDCT: problem-solving tool and surrogate biomarker for hepatic disease clinical care and drug discovery in the era of personalized medicine.

    PubMed

    Wang, Liang

    2010-08-17

    This article explains the significant role of morphological and functional multidetector computer tomography (MDCT) in combination with imaging postprocessing algorithms served as a problem-solving tool and noninvasive surrogate biomarker to effectively improve hepatic diseases characterization, detection, tumor staging and prognosis, therapy response assessment, and novel drug discovery programs, partial liver resection and transplantation, and MDCT-guided interventions in the era of personalized medicine. State-of-the-art MDCT depicts and quantifies hepatic disease over conventional CT for not only depicting lesion location, size, and extent but also detecting changes in tumor biologic behavior caused by therapy or tumor progression before morphologic changes. Color-encoded parameter display provides important functional information on blood flow, permeability, leakage space, and blood volume. Together with other relevant biomarkers and genomics, the imaging modality is being developed and validated as a biomarker to early response to novel, targeted anti-VEGF(R)/PDGFR or antivascular/angiogenesis agents as its parameters correlate with immunohistochemical surrogates of tumor angiogenesis and molecular features of malignancies. MDCT holds incremental value to World Health Organization response criteria and Response Evaluation Criteria in Solid Tumors in liver disease management. MDCT volumetric measurement of future remnant liver is the most important factor influencing the outcome of patients who underwent partial liver resection and transplantation. MDCT-guided interventional methods deliver personalized therapies locally in the human body. MDCT will hold more scientific impact when it is fused with other imaging probes to yield comprehensive information regarding changes in liver disease at different levels (anatomic, metabolic, molecular, histologic, and other levels).

  7. Personalized Cancer Genetics Training for Personalized Medicine

    PubMed Central

    Blazer, Kathleen R.; MacDonald, Deborah J.; Culver, Julie O.; Huizenga, Carin R.; Morgan, Robert J.; Uman, Gwen C.; Weitzel, Jeffrey N.

    2012-01-01

    Purpose To assess the impact of a multi-modal interdisciplinary course in genetic cancer risk assessment (GCRA) and research collaboration for community-based clinicians. Clinicians are increasingly requested to conduct GCRA, but many are inadequately prepared to provide these services. Methods A prospective analysis of 131 participants (48 physicians, 41 advanced-practice nurses and 42 genetic counselors) from community settings across the U.S. The course was delivered in three phases: distance didactic learning, face-to-face training and 12 months of Web-based professional development activities to support integration of skills into practice. Cancer genetics knowledge, skills, professional self-efficacy and practice changes were measured at baseline, immediate- and 14-months-post course. Results Knowledge, skills and self-efficacy scores were significantly different between practice disciplines; however, post scores increased significantly overall and for each discipline (p<.001). Fourteen-month practice outcomes reflect significant increases in provision of GCRA services (p=.018), dissemination of cancer prevention information (p=.005) and high-risk screening recommendations (p=.004) to patients, patient enrollment in research (p=.013), and educational outreach about GCRA (p=.003). Conclusions Results support the efficacy of the multi-modal course as a tool to develop a genetically literate workforce. Sustained alumni participation in Web-based professional development activities has evolved into a distance-mediated Community of Practice in clinical cancer genetics, modeling the lifelong learning goals envisioned by leading CME stakeholders. PMID:21629123

  8. Field medicine: a new paradigm of geriatric medicine.

    PubMed

    Matsubayashi, Kozo; Okumiya, Kiyohito

    2012-01-01

    It is only during the last half century that aging came to be truly thought of as a societal issue rather than simply a personal one, as well as a challenge to be tackled by science and medicine. Diseases used to be studied only in hospitals and laboratories, centering on patients treated there. However, caring for elderly people in hospitals provides only a small glimpse into their world. With an advancing aged population, the reality of old age and age-related chronic illnesses takes place in homes and communities. To truly understand the health issues of the elderly, we ventured into communities and visited elderly persons in their homes and cultural environments in Kochi prefecture. The Department of Geriatric Medicine, Kochi Medical School, was the first in Japan to incorporate the Comprehensive Geriatric Assessment in preventive intervention and evaluation of the medical problems of elderly people in field settings, which could not be completely resolved in the hospital. Geriatric findings in field settings in Kochi before (1990-2000) and after (2000-2010) the introduction of the nationwide long-term care insurance system throughout Japan were reviewed. Field medicine also enables us to explore the aging of people living not only in Japan but also in several Asian communities and, further, into those living in atypical environments such as the Himalayan highlands. Based on the geriatric findings of field medicine carried out in sites with different ecology and cultures, we reconsidered the optimal aging situation based on the activities of daily living and quality of life, as well as chronic diseases of elderly people throughout the world. In this review article, we would like to highlight the importance of field medicine as a new paradigm of geriatric medical research.

  9. Bilski: assessing the impact of a newly invigorated patent-eligibility doctrine on the pharmaceutical industry and the future of personalized medicine.

    PubMed

    Holman, Christopher M

    2010-01-01

    The patent-eligibility doctrine serves a gatekeeper role in excluding from patent protection natural phenomena, principles of nature, abstract ideas, and mental processes. Beginning around 1980, the U.S. patent system embarked upon a pronounced expansion in its definition of patent-eligible subject matter, particularly with respect to software and business method inventions, but also in the life sciences. In recent years, however, we have seen a backlash, with many critics from the public and private sectors arguing that the threshold for patent-eligibility needs to be raised in order to ensure that patents fulfill their constitutional objective of encouraging innovation rather than impeding it. The courts and PTO appear to have heard these critics, and have begun to actively rein in the scope of patent-eligible subject matter. This shift in the swing of the patent-eligibility pendulum will likely have a profound impact on the patentability of innovations arising out of the pharmaceutical and biotechnology industries, particularly those relating to diagnostics and personalized medicine. In this article, I discuss the current status of the patent-eligibility doctrine, how it is that we got here, and what the future might hold, particularly for the life science industries.

  10. Moving toward Personalized Medicine in the Methadone Maintenance Treatment Program: A Pilot Study on the Evaluation of Treatment Responses in Taiwan

    PubMed Central

    Lee, Hsin-Ya; Li, Jih-Heng; Sheu, Yuh-Ling; Tang, Hsin-Pei; Chang, Wei-Chiao; Tang, Tze-Chun; Yeh, Yi-Chun; Wang, Shing-Yaw; Liu, Ray-H.

    2013-01-01

    This pilot study simultaneously evaluated the effects of various factors, including genetic variations of CYP2B6, CYP2C19, and ABCB1, demographic characteristics, disease states, methadone-drug interactions (MDIs), and poly-substance use, on the treatment responses among non-HIV patients in the methadone maintenance treatment program (MMTP) in Taiwan. A total of 178 patients were recruited from two major hospitals that provided MMTP services in southern Taiwan, and information regarding concomitant medications and diseases was acquired from the National Health Insurance (NHI) program. The results demonstrated that the methadone maintenance dose, CYP2B6 785G allele, and ABCB1 2677T allele have positive effects on the methadone plasma concentration. In contrast, patients with HCV coinfection, alcohol problems, and psychiatric diseases may have a negative response to treatment. Thus, a comprehensive evaluation of treatment responses in the MMTP should include not only genetic polymorphisms in methadone metabolism and transporter proteins, but also concomitant diseases, MDIs, and poly-substance use. The results also suggest that personalized medicine may be indispensable for a better outcome of the MMTP. PMID:24455721

  11. Moving toward personalized medicine in the methadone maintenance treatment program: a pilot study on the evaluation of treatment responses in Taiwan.

    PubMed

    Lee, Hsin-Ya; Li, Jih-Heng; Sheu, Yuh-Ling; Tang, Hsin-Pei; Chang, Wei-Chiao; Tang, Tze-Chun; Yeh, Yi-Chun; Wang, Shing-Yaw; Liu, Ray-H

    2013-01-01

    This pilot study simultaneously evaluated the effects of various factors, including genetic variations of CYP2B6, CYP2C19, and ABCB1, demographic characteristics, disease states, methadone-drug interactions (MDIs), and poly-substance use, on the treatment responses among non-HIV patients in the methadone maintenance treatment program (MMTP) in Taiwan. A total of 178 patients were recruited from two major hospitals that provided MMTP services in southern Taiwan, and information regarding concomitant medications and diseases was acquired from the National Health Insurance (NHI) program. The results demonstrated that the methadone maintenance dose, CYP2B6 785G allele, and ABCB1 2677T allele have positive effects on the methadone plasma concentration. In contrast, patients with HCV coinfection, alcohol problems, and psychiatric diseases may have a negative response to treatment. Thus, a comprehensive evaluation of treatment responses in the MMTP should include not only genetic polymorphisms in methadone metabolism and transporter proteins, but also concomitant diseases, MDIs, and poly-substance use. The results also suggest that personalized medicine may be indispensable for a better outcome of the MMTP.

  12. Travel medicine

    PubMed Central

    Aw, Brian; Boraston, Suni; Botten, David; Cherniwchan, Darin; Fazal, Hyder; Kelton, Timothy; Libman, Michael; Saldanha, Colin; Scappatura, Philip; Stowe, Brian

    2014-01-01

    Abstract Objective To define the practice of travel medicine, provide the basics of a comprehensive pretravel consultation for international travelers, and assist in identifying patients who might require referral to travel medicine professionals. Sources of information Guidelines and recommendations on travel medicine and travel-related illnesses by national and international travel health authorities were reviewed. MEDLINE and EMBASE searches for related literature were also performed. Main message Travel medicine is a highly dynamic specialty that focuses on pretravel preventive care. A comprehensive risk assessment for each individual traveler is essential in order to accurately evaluate traveler-, itinerary-, and destination-specific risks, and to advise on the most appropriate risk management interventions to promote health and prevent adverse health outcomes during travel. Vaccinations might also be required and should be personalized according to the individual traveler’s immunization history, travel itinerary, and the amount of time available before departure. Conclusion A traveler’s health and safety depends on a practitioner’s level of expertise in providing pretravel counseling and vaccinations, if required. Those who advise travelers are encouraged to be aware of the extent of this responsibility and to refer all high-risk travelers to travel medicine professionals whenever possible. PMID:25500599

  13. Personal protective equipment

    MedlinePlus

    ... medlineplus.gov/ency/patientinstructions/000447.htm Personal protective equipment To use the sharing features on this page, please enable JavaScript. Personal protective equipment is special equipment you wear to create a ...

  14. Trends in nuclear medicine in developing countries.

    PubMed

    Dondi, Maurizio; Kashyap, Ravi; Paez, Diana; Pascual, Thomas; Zaknun, John; Bastos, Fernando Mut; Pynda, Yaroslav

    2011-12-01

    This article describes trends in nuclear medicine in the developing world as noted by nuclear medicine professionals at the International Atomic Energy Agency (IAEA). The trends identified are based on data gathered from several sources, including information gathered through a database maintained by the IAEA; evaluation of country program frameworks of various IAEA Member States; personal interactions with representatives in the nuclear medicine field from different regions of the world; official proceedings and meeting reports of the IAEA; participation in numerous national, regional, and international conferences; discussions with the leadership of major professional societies; and relevant literature. The information presented in this article relied on both objective and subjective observations. The aims of this article were to reflect on recent developments in the specialty of nuclear medicine and to envision the directions in which it is progressing. These issues are examined in terms of dimensions of practice, growth, and educational and training needs in the field of nuclear medicine. This article will enable readers to gain perspective on the status of nuclear medicine practice, with a specific focus on the developing world, and to examine needs and trends arising from the observations.

  15. An Epigenetic Biomarker Panel for Glioblastoma Multiforme Personalized Medicine through DNA Methylation Analysis of Human Embryonic Stem Cell-like Signature

    PubMed Central

    Cheng, Wan-Shu; Hood, Leroy; Tian, Qiang

    2014-01-01

    Abstract Alterations of DNA methylation occur during the course of both stem cell development and tumorigenesis. We present a novel strategy that can be used to stratify glioblastoma multiforme (GBM) patients through the epigenetic states of genes associated with human embryonic stem cell (hESC) identity in order to 1) assess linkages between the methylation signatures of these stem cell genes and survival of GBM patients, and 2) delineate putative mechanisms leading to poor prognosis in some patient subgroups. A DNA methylation signature was established for stratifying GBM patients into several hESC methylator subgroups. The hESC methylator-negative phenotype has demonstrated poor survival and upregulation of glioma stem cell (GSC) markers, and is enriched in one of the previously defined transcriptomic phenotypes—the mesenchymal phenotype. We further identified a refined signature of 36 genes as the gene panel, including SOX2, POU3F2, FGFR2, GAP43, NTRK2, NTRK3, and NKX2-2, which are highly enriched in the nervous system. Both signatures outperformed the O6-methylguanine-DNA methyltransferase (MGMT) methylation test in predicting patient's outcome. These findings were also validated through an independent dataset of patients. Furthermore, through statistical analyses, both signatures were examined significantly. Hypomethylation of hESC-associated genes predicted poorer clinical outcome in GBM, supporting the idea that epigenetic activation of stem cell genes contributes to GBM aggression. The gene panel presented herein may be developed into clinical assays for patient stratification and future personalized medicine interventions. PMID:24601786

  16. Personalized medicine in severe influenza.

    PubMed

    Valenzuela-Sánchez, F; Valenzuela-Méndez, B; Rodríguez-Gutiérrez, J F; Rello, J

    2016-06-01

    Existing therapies against infectious diseases may only be effective in limited subpopulations during specific phases of diseases, incorporating theranostics, and there is a clear need to individualize different therapeutic approaches depending on the host. Influenza A virus infection evolves into a severe respiratory failure in some young adult patients, related to an exaggerated inflammatory response. Mortality rates remain high despite antiviral treatment and aggressive respiratory support. The influenza A virus (IAV) infection will induce a proinflammatory innate immune response through recognition of viral RNA by Toll-like receptor (TLR) 7 and retinoic acid-inducible gene 1 (RIG-I) molecules by nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB route). Anti-inflammatory therapies focused on modulating this inflammatory response to "all patients" have not been satisfactory. Steroids should be avoided because they do not improve survival and promote superinfections. Since clinical judgment has often been proven inadequate, interest in the use of biomarkers to monitor host response and to assess severity and complications is growing. It is well known that, if used appropriately, these can be helpful tools to predict not only severity but also mortality. We need more biomarkers that predict host response: it is time to change lactate measurement to proteomics and transcriptomics. Theranostics describes an approach covering both diagnosis and coupled therapy. Death is usually a fatal complication of a dysregulated immune response more than the acute virulence of the infectious agent. Future research demonstrating the usefulness of adjunctive therapy in a subset of critically ill patients with IAV pneumonia is an unmet clinical need.

  17. Personalizing medicine with clinical pharmacogenetics

    PubMed Central

    Scott, Stuart A.

    2012-01-01

    Clinical genetic testing has grown substantially over the past 30 years as the causative mutations for Mendelian diseases have been identified, particularly aided in part by the recent advances in molecular-based technologies. Importantly, the adoption of new tests and testing strategies (e.g., diagnostic confirmation, prenatal testing, and population-based carrier screening) has often been met with caution and careful consideration before clinical implementation, which facilitates the appropriate use of new genetic tests. Although the field of pharmacogenetics was established in the 1950s, clinical testing for constitutional pharmacogenetic variants implicated in interindividual drug response variability has only recently become available to help clinicians guide pharmacotherapy, in part due to US Food and Drug Administration-mediated product insert revisions that include pharmacogenetic information for selected drugs. However, despite pharmacogenetic associations with adverse outcomes, physician uptake of clinical pharmacogenetic testing has been slow. Compared with testing for Mendelian diseases, pharmacogenetic testing for certain indications can have a lower positive predictive value, which is one reason for underutilization. A number of other barriers remain with implementing clinical pharmacogenetics, including clinical utility, professional education, and regulatory and reimbursement issues, among others. This review presents some of the current opportunities and challenges with implementing clinical pharmacogenetic testing. PMID:22095251

  18. The Promise of Personalized Medicine

    MedlinePlus

    ... to more precise tools, from less to more quantitative data, to inform yourself and increase your knowledge. Photo courtesy of NIH Klose: How would you describe your own approach to research? Dr. Zerhouni : I'm sort of a hybrid ...

  19. Indians into Medicine.

    ERIC Educational Resources Information Center

    Beiswenger, James N.

    Located at the University of North Dakota School of Medicine, Indians Into Medicine (INMED) is a multi-faceted program providing academic, financial, and personal support for Indian students preparing for health careers. The program has the following goals: (1) increase awareness and motivation among Indian students with the potential for health…

  20. Ketones and lactate increase cancer cell "stemness," driving recurrence, metastasis and poor clinical outcome in breast cancer: achieving personalized medicine via Metabolo-Genomics.

    PubMed

    Martinez-Outschoorn, Ubaldo E; Prisco, Marco; Ertel, Adam; Tsirigos, Aristotelis; Lin, Zhao; Pavlides, Stephanos; Wang, Chengwang; Flomenberg, Neal; Knudsen, Erik S; Howell, Anthony; Pestell, Richard G; Sotgia, Federica; Lisanti, Michael P

    2011-04-15

    Previously, we showed that high-energy metabolites (lactate and ketones) "fuel" tumor growth and experimental metastasis in an in vivo xenograft model, most likely by driving oxidative mitochondrial metabolism in breast cancer cells. To mechanistically understand how these metabolites affect tumor cell behavior, here we used genome-wide transcriptional profiling. Briefly, human breast cancer cells (MCF7) were cultured with lactate or ketones, and then subjected to transcriptional analysis (exon-array). Interestingly, our results show that treatment with these high-energy metabolites increases the transcriptional expression of gene profiles normally associated with "stemness," including genes upregulated in embryonic stem (ES) cells. Similarly, we observe that lactate and ketones promote the growth of bonafide ES cells, providing functional validation. The lactate- and ketone-induced "gene signatures" were able to predict poor clinical outcome (including recurrence and metastasis) in a cohort of human breast cancer patients. Taken together, our results are consistent with the idea that lactate and ketone utilization in cancer cells promotes the "cancer stem cell" phenotype, resulting in signific