Samwald, Matthias; Coulet, Adrien; Huerga, Iker; Powers, Robert L; Luciano, Joanne S; Freimuth, Robert R; Whipple, Frederick; Pichler, Elgar; Prud’hommeaux, Eric; Dumontier, Michel; Marshall, M Scott
Understanding how each individual’s genetics and physiology influences pharmaceutical response is crucial to the realization of personalized medicine and the discovery and validation of pharmacogenomic biomarkers is key to its success. However, integration of genotype and phenotype knowledge in medical information systems remains a critical challenge. The inability to easily and accurately integrate the results of biomolecular studies with patients’ medical records and clinical reports prevents us from realizing the full potential of pharmacogenomic knowledge for both drug development and clinical practice. Herein, we describe approaches using Semantic Web technologies, in which pharmacogenomic knowledge relevant to drug development and medical decision support is represented in such a way that it can be efficiently accessed both by software and human experts. We suggest that this approach increases the utility of data, and that such computational technologies will become an essential part of personalized medicine, alongside diagnostics and pharmaceutical products. PMID:22256869
Guest, Paul C
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.
Guest, Francesca L; Guest, Paul C
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.
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
Kawamoto, Kensaku; Lobach, David F; Willard, Huntington F; Ginsburg, Geoffrey S
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. 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. 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 leveraging these knowledge
Arjmand, Babak; Goodarzi, Parisa; Mohamadi-Jahani, Fereshteh; Falahzadeh, Khadijeh; Larijani, Bagher
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.
Wium-Andersen, Ida Kim; Vinberg, Maj; Kessing, Lars Vedel; McIntyre, Roger S
Personalized medicine is a model in which a patient's unique clinical, genetic, and environmental characteristics are the basis for treatment and prevention. Aim, method, and results: This review aims to describe the current tools, phenomenological features, clinical risk factors, and biomarkers used to provide personalized medicine. Furthermore, this study describes the target areas in which they can be applied including diagnostics, treatment selection and response, assessment of risk of side-effects, and prevention. Personalized medicine in psychiatry is challenged by the current taxonomy, where the diagnostic categories are broad and great biological heterogeneity exists within each category. There is, thus, a gap between the current advanced research prospects and clinical practice, and the current taxonomy is, thus, a poor basis for biological research. The discussion proposes possible solutions to narrow this gap and to move psychiatric research forward towards personalized medicine.
Liu, Angen; Pollard, Kai
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.
Guest, Francesca L; Guest, Paul C; Martins-de-Souza, Daniel
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.
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.
Vizirianakis, Ioannis S.; Amanatiadou, Elsa P.
The target of personalized medicine to achieve major benefits for all patients in terms of diagnosis and drug delivery can be facilitated by creating a sincere multidisciplinary information-based infrastructure in health care. To this end, nanotechnology, pharmacogenomics, and informatics can advance the utility of personalized medicine, enable clinical translation of genomic knowledge, empower healthcare environment, and finally improve clinical outcomes.
Qattan, Malak; Demonacos, Constantinos; Krstic-Demonacos, Marija
Standard clinical protocols and the concept "one drug fits all" that are currently used to treat illness in many cases are not effective, and strikingly so in the treatment of cancer, where 75% of therapeutic schemes are ineffective. The concept of personalized medicine is that the treatment of the disease is designed on the basis of the individual needs of each patient and the factors that influence their response to different drugs. Individualization of patient care has the potential to generate novel effective therapies, limit the adverse drug effects, create optimal treatments for individual patients, and decrease the cost associated with chronic illness and complications of drug usage. However, to achieve the goals of personalized medicine many challenges must be addressed. Here we discuss possible ways to increase the consistency of data generated by basic research and their suitability for application in medicine. New technologies employing systems biology and computer based approaches will facilitate overcoming many of the scientific challenges in the field. Changes in the education of researchers, health professionals, and the public are also required to successfully implement personalized medicine as a routine in the clinic. Finally, shift of the focus away from the development of blockbuster drugs in the biopharmaceutical industry, and modifications in the legal system to accommodate novel advancements need to be considered. The joint effort of all interested parties is needed to generate an efficient roadmap that will take us rapidly and safely to effective individual treatment, which will eliminate diseases and create better health care for all.
Ferrando, Matteo; Bagnasco, Diego; Varricchi, Gilda; Bernardi, Stefano; Bragantini, Alice; Passalacqua, Giovanni
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
Cornetta, Kenneth; Brown, Candy Gunther
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.
Joly, Yann; Knoppers, Bartha M
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.
Kłak, Anna; Kwiatkowska, Brygida; Raciborski, Filip
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
Kłak, Anna; Paradowska-Gorycka, Agnieszka; Kwiatkowska, Brygida; Raciborski, Filip
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).
Lee, Moo-Sik; Flammer, Andreas J; Lerman, Lilach O; Lerman, Amir
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.
Cornetta, Kenneth; Brown, Candy Gunther
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
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.
Ginsburg, Geoffrey S; Willard, Huntington F
The last decade has witnessed a steady embrace of genomic and personalized medicine by senior government officials, industry leadership, health care providers, and the public. Genomic medicine, which is the use of information from genomes and their derivatives (RNA, proteins, and metabolites) to guide medical decision making-is a key component of personalized medicine, which is a rapidly advancing field of health care that is informed by each person's unique clinical, genetic, genomic, and environmental information. As medicine begins to embrace genomic tools that enable more precise prediction and treatment disease, which include "whole genome" interrogation of sequence variation, transcription, proteins, and metabolites, the fundamentals of genomic and personalized medicine will require the development, standardization, and integration of several important tools into health systems and clinical workflows. These tools include health risk assessment, family health history, and clinical decision support for complex risk and predictive information. Together with genomic information, these tools will enable a paradigm shift to a comprehensive approach that will identify individual risks and guide clinical management and decision making, all of which form the basis for a more informed and effective approach to patient care. DNA-based risk assessment for common complex disease, molecular signatures for cancer diagnosis and prognosis, and genome-guided therapy and dose selection are just among the few important examples for which genome information has already enabled personalized health care along the continuum from health to disease. In addition, information from individual genomes, which is a fast-moving area of technological development, is spawning a social and information revolution among consumers that will undoubtedly affect health care decision making. Although these and other scientific findings are making their way from the genome to the clinic, the full
Jain, K K
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.
Virgin, Herbert W.; Todd, John A.
The microbiome is a complex community of Bacteria, Archaea, Eukarya and viruses that infect humans and live in our tissues. It contributes the majority of genetic information to our metagenome, and consequently, to our resistance and susceptibility to diseases, especially common inflammatory diseases, such as type 1 diabetes, ulcerative colitis, and Crohn's disease. Here we discuss how host-gene-microbial interactions are major determinants for the development of these multifactorial chronic disorders and thus, for the relationship between genotype and phenotype. We also explore how genome-wide association studies (GWAS) on autoimmune and inflammatory diseases are uncovering mechanism-based sub-types for these disorders. Applying these emerging concepts will permit a more complete understanding of the etiologies of complex diseases and underpin the development of both next generation animal models and new therapeutic strategies for targeting personalized disease phenotypes. PMID:21962506
Burke, Wylie; Trinidad, Susan Brown; Press, Nancy A
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
Salari, Keyan; Watkins, Hugh; Ashley, Euan A.
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
Wallick, M M; Cambre, K M
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.
Hesse, Bradford W.; Suls, Jerry M.
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
Jain, Kewal K
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.
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,…
Mathur, Sunil; Sutton, Joseph
Personalized medicine (PM) is about tailoring a treatment as individualized as the disease. The approach relies on identifying genetic, epigenomic, and clinical information that allows the breakthroughs in our understanding of how a person's unique genomic portfolio makes them vulnerable to certain diseases. PM approach is a complete extension of traditional approach (One-Size-Fits-All) to increasing our ability to predict which medical treatments will be safe and effective for individual patient, and which ones will not be, based on the patient's unique genetic profile. Implementation of PM has the potential to reduce financial and time expenditure, and increase quality of life and life extension of patients. Knowledge of PM facilitates earlier disease detection via enhanced use of existing biomarkers and detection of early genomic and epigenomic events in disease development, particularly carcinogenesis. The PM approach predominantly focuses on preventative medicine and favours taking pro-active actions rather than just reactive. This approach delays or prevents the need to apply more severe treatments which are usually less tolerated and with increased quality of life and financial considerations. Increasing healthcare costs have placed additional pressure on government funded healthcare systems globally, especially regarding end of life care. PM may increase the effectiveness of existing treatments and negate the inherent problems associated with non-PM approaches. PM is a young but rapidly expanding field of healthcare where a physician can select a treatment based on a patient's genetic profile that may not only minimize harmful side effects and guarantee a more successful result, but can be less cost effective compared with a 'trial-and-error' approach to disease treatment. The less efficient non-PM ('trial-and-error') approach, which can lead to drug toxicity, severe side effects, reactive treatment and misdiagnosis continue to contribute to increasing
Fumagalli, Danielle C.; Gouw, Arvin M.
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
Fumagalli, Danielle C; Gouw, Arvin M
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.
Recent advances in the self-shielded cyclotrons, improved targets, videomonitored hot cells design, and automated PET radiopharmaceutical (RPs) synthesis modules, utilizing computer-controlled graphic user interphase (GUI) has revolutionized PET molecular imaging technology for basic biomedical research and theranostics to accomplish the ultimate goal of evidence-based personalized medicine. Particularly, [18F]HX4: (3-[18F]fluoro-2-(4-((2-nitro-1Himidazol-1-yl)methyl)-1H-1,2,3,-triazol-1- yl)-propan-1-ol), 18F-FAZA: 1-(5-[18F]Fluoro-5-deoxy-α-D-arabinofuranosyl)-2- nitroimidazole, and 18F-FMSIO: 18F-Ffluoromisonidazole to assess tumor hypoxia, [18F]FB-VAD-FMK: [18F]4-fluorobenzylcarbonyl-Val-Ala-Asp(OMe)-fluoromethylketone to determine in vivo apoptosis, 64Cu-PTSM: 64Cu-Pyrualdehyde Bis-NMethylthiosemicarbazone for brain and myocardial perfusion imaging, and 68Ga-DOTATOC: 68Ga- DOTAD-Phy1-Tyr3-octreotide and 68Ga-DOTANOC: 68Ga-(1,4,7,10-tetraazacyclododecane- N,N',N'',N'''-tetraacetic acid)-1-NaI3-octreotide for neuroendocrine and neural crest tumors have demonstrated great promise in personalized theranostics. Furthermore, multimodality imaging with 124IPET/ CT and 18FDG-PET/CT rationalizes 131I treatment in thyroid cancer patients to prevent cost and morbid toxicity. In addition to 18F-labeled PET-RPs used in clinical practice, novel discoveries of chemical reactions including transition metal-mediated cross-coupling of carbon-carbon, carbonheterocarbon, and click chemistry at ambient temperature with significantly reduced synthesis times, labeled even with short-lived radionuclides such as 11C, has facilitated development of novel PET-RPs. These innovative approaches to synthesize PET-RPs and efficient image acquisition capabilities have improved the resolution of multimodality imaging and significantly reduced the radiation exposure to patients as well as healthcare professionals. Future developments in novel PET-RPs, utilizing automated microfluidic synthesis
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
"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.
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.
The central theme of personalized medicine is the premise that an individual’s unique physiologic characteristics play a significant role in both disease vulnerability and in response to specific therapies. The major goals of personalized medicine are therefore to predict an individual’s susceptibility to developing an illness, achieve accurate diagnosis, and optimize the most efficient and favorable response to treatment. The goal of achieving personalized medicine in psychiatry is a laudable one, because its attainment should be associated with a marked reduction in morbidity and mortality. In this review, we summarize an illustrative selection of studies that are laying the foundation towards personalizing medicine in major depressive disorder, bipolar disorder, and schizophrenia. In addition, we present emerging applications that are likely to advance personalized medicine in psychiatry, with an emphasis on novel biomarkers and neuroimaging. PMID:23680237
Farah, Claude; Schubert, Camille; Mitchell, Andrew; Hiller, Janet E.; Ryan, Philip
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
Di Paolo, Antonello; Sarkozy, François; Ryll, Bettina; Siebert, Uwe
Personalized medicine has the potential to allow patients to receive drugs specific to their individual disease, and to increase the efficiency of the healthcare system. There is currently no comprehensive overview of personalized medicine, and this research aims to provide an overview of the concept and definition of personalized medicine in nine European countries. A targeted literature review of selected health databases and grey literature was conducted to collate information regarding the definition, process, use, funding, impact and challenges associated with personalized medicine. In-depth qualitative interviews were carried out with experts with health technology assessment, clinical provisioning, payer, academic, economic and industry experience, and with patient organizations. We identified a wide range of definitions of personalized medicine, with most studies referring to the use of diagnostics and individual biological information such as genetics and biomarkers. Few studies mentioned patients' needs, beliefs, behaviour, values, wishes, utilities, environment and circumstances, and there was little evidence in the literature for formal incorporation of patient preferences into the evaluation of new medicines. Most interviewees described approaches to stratification and segmentation of patients based on genetic markers or diagnostics, and few mentioned health-related quality of life. The published literature on personalized medicine is predominantly focused on patient stratification according to individual biological information. Although these approaches are important, incorporation of environmental factors and patients' preferences in decision making is also needed. In future, personalized medicine should move from treating diseases to managing patients, taking into account all individual factors.
Juengst, Eric T.; Flatt, Michael A.; Settersten, Richard A.
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
Sumantran, Venil N; Tillu, Girish
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.
Ng, P C; Zhao, Q; Levy, S; Strausberg, R L; Venter, J C
The cost of sequencing and genotyping is aggressively decreasing, enabling pervasive personalized genomic screening for drug reactions. Drug-metabolizing genes have been characterized sufficiently to enable practitioners to go beyond simplistic ethnic characterization and into the precisely targeted world of personal genomics. We examine six drug-metabolizing genes in J. Craig Venter and James Watson, two Caucasian men whose genomes were recently sequenced. Their genetic differences underscore the importance of personalized genomics over a race-based approach to medicine. To attain truly personalized medicine, the scientific community must aim to elucidate the genetic and environmental factors that contribute to drug reactions and not be satisfied with a simple race-based approach.
McCabe, Linda L; McCabe, Edward R B
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.
Walker, L E; Mirza, N; Yip, V L M; Marson, A G; Pirmohamed, M
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.
Zhang, Aihua; Sun, Hui; Wang, Ping; Han, Ying; Wang, Xijun
Deconstruction of molecular pathways and advances in enabling technology platforms have opened new horizons for disease management, exploring therapeutic solutions to each individual patient beyond the one-size fits all practice. Application of personalized medicine paradigms aims to achieve the right diagnosis and right treatment for the right patient at the right time at the right cost. With the potential to transform medical practice across global communities, personalized medicine is emerging as the flagship of modern medicine. In recent years, the health care paradigm has shifted from a focus on diseases to a major hot of personalized traditional Chinese medicine (TCM) with holistic approach. TCM focuses on health maintenance, emphasizes on enhancing the body's resistance to diseases and especially showes great advantages in early intervention, personalized and combination therapies, etc. Systems biology, a new science of the 21st century, becomes practically available and resembles TCM in many aspects such as study method and design, and is current key component technologies that serves as the major driving force for translation of the personalized medicine revolution of TCM principles into practice, will advance personalized therapy principles into healthcare management tools for individuals and populations. Such system approach concepts are transforming principles of TCM to modern therapeutic approaches, enable a predictive and preventive medicine and will lead to personalized medicine. To realise the full potential of personalized TCM, we describe the current status of principles and practice of TCM integrated with systems biology platform. Some characteristic examples are presented to highlight the application of this platform to personalized TCM research and development as well as some of the necessary milestones for moving TCM into mainstream health care. Copyright © 2011 Elsevier Ltd. All rights reserved.
Quinney, Sara K; Patil, Avinash S; Flockhart, David A
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.
Watkins, John; Marsh, Andrew; Taylor, Paul C; Singer, Donald R J
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.
Quinney, Sara K; Flockhart, David A; Patil, Avinash S
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
Beger, Richard D; Dunn, Warwick; Schmidt, Michael A; Gross, Steven S; Kirwan, Jennifer A; Cascante, Marta; Brennan, Lorraine; Wishart, David S; Oresic, Matej; Hankemeier, Thomas; Broadhurst, David I; Lane, Andrew N; Suhre, Karsten; Kastenmüller, Gabi; Sumner, Susan J; Thiele, Ines; Fiehn, Oliver; Kaddurah-Daouk, Rima
stratification of patients based on metabolic pathways impacted; (4) reveal biomarkers for drug response phenotypes, providing an effective means to predict variation in a subject's response to treatment (pharmacometabolomics); (5) define a metabotype for each specific genotype, offering a functional read-out for genetic variants: (6) provide a means to monitor response and recurrence of diseases, such as cancers: (7) describe the molecular landscape in human performance applications and extreme environments. Importantly, sophisticated metabolomic analytical platforms and informatics tools have recently been developed that make it possible to measure thousands of metabolites in blood, other body fluids, and tissues. Such tools also enable more robust analysis of response to treatment. New insights have been gained about mechanisms of diseases, including neuropsychiatric disorders, cardiovascular disease, cancers, diabetes and a range of pathologies. A series of ground breaking studies supported by National Institute of Health (NIH) through the Pharmacometabolomics Research Network and its partnership with the Pharmacogenomics Research Network illustrate how a patient's metabotype at baseline, prior to treatment, during treatment, and post-treatment, can inform about treatment outcomes and variations in responsiveness to drugs (e.g., statins, antidepressants, antihypertensives and antiplatelet therapies). These studies along with several others also exemplify how metabolomics data can complement and inform genetic data in defining ethnic, sex, and gender basis for variation in responses to treatment, which illustrates how pharmacometabolomics and pharmacogenomics are complementary and powerful tools for precision medicine. Our metabolomics community believes that inclusion of metabolomics data in precision medicine initiatives is timely and will provide an extremely valuable layer of data that compliments and informs other data obtained by these important initiatives. Our
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.
Dudley, Joel T; Listgarten, Jennifer; Stegle, Oliver; Brenner, Steven E; Parts, Leopold
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.
Radermecker, R P
More patients are actually treated due to the incredible improvements of medical care, especially in the field of pharmacotherapy. Medical guidelines are based on the results of controlled trials. This kind of medicine, also called Evidence Based Medicine (EBM), is actually the cornerstone of good clinical practice. Nevertheless, it remains a lot of patients disappointed by the fact that they have no medical gain of their treatment. The reason is that each patient has his/her own metabolic characteristics. Better is, the characterization of such patients, better will be the treatment targeting them. It is what is called the personalized medicine. To reach this challenge, pharmacogenetic advances would be helpful. From an antagonism between EBM and personalized medicine, this new medical paradigm has to consider these approaches as partners. To reach this goal, medical doctors, legal authorities and pharmaceutical companies have to be responsible in front of these new ethical challenges.
Following the completion of the human genome project, genomic medicine including personalized medicine, widely based on pharmacogenetics and pharmacogenomics, is rapidly developing. This breakthrough should benefit humankind thanks to tailoring the most appropriate prevention, interventions and therapies to each individual, minimizing adverse side effects, based on inter-personal genetic variety and polymorphism. Yet wide spectrum ethical, legal and social issues carry significant implications regarding individuals, families, society and public health. The main issues concern genomic information and autonomy, justice and equity, resources allocation and solidarity, challenging the traditional role of medicine and dealing with unlimited boundaries of knowledge. Those issues are not new nor exceptional to genomic medicine, yet their wide unlimited scope and implications on many aspects of life renders them crucial. These aspects will be discussed in light of Beauchamp and Childress' four principles: non-maleficence, beneficence, autonomy and justice, and main moral philosophies, Kant's autonomy, Utilitarianism which promotes the common good, and Rawls' Theory of Justice.
Skelton, Rachel L.; Kornhauser, Jon M.; Tate, Barbara A.
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
Skelton, Rachel L; Kornhauser, Jon M; Tate, Barbara A
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.
Xing, Hang; Hwang, Kevin; Li, Ji; Torabi, Seyed-Fakhreddin; Lu, Yi
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
Vorderstrasse, Allison A; Hammer, Marilyn J; Dungan, Jennifer R
Identify and discuss the nursing implications of personalized and precision oncology care. PubMed, CINAHL. The implications in personalized and precision cancer nursing care include interpretation and clinical use of novel and personalized information including genetic testing; patient advocacy and support throughout testing, anticipation of results and treatment; ongoing chronic monitoring; and support for patient decision-making. Attention must also be given to the family and ethical implications of a personalized approach to care. Nurses face increasing challenges and opportunities in communication, support, and advocacy for patients given the availability of advanced testing, care and treatment in personalized and precision medicine. Nursing education and continuing education, clinical decision support, and health systems changes will be necessary to provide personalized multidisciplinary care to patients, in which nurses play a key role. Copyright © 2014 Elsevier Inc. All rights reserved.
Marson, Fernando A. L.; Bertuzzo, Carmen S.; Ribeiro, José D.
The advent of the knowledge on human genetics, by the identification of disease-associated variants, culminated in the understanding of human variability. With the genetic knowledge, the specificity of the clinical phenotype and the drug response of each individual were understood. Using the cystic fibrosis (CF) as an example, the new terms that emerged such as personalized medicine and precision medicine can be characterized. The genetic knowledge in CF is broad and the presence of a monogenic disease caused by mutations in the CFTR gene enables the phenotype–genotype association studies (including the response to drugs), considering the wide clinical and laboratory spectrum dependent on the mutual action of genotype, environment, and lifestyle. Regarding the CF disease, personalized medicine is the treatment directed at the symptoms, and this treatment is adjusted depending on the patient’s phenotype. However, more recently, the term precision medicine began to be widely used, although its correct application and understanding are still vague and poorly characterized. In precision medicine, we understand the individual as a response to the interrelation between environment, lifestyle, and genetic factors, which enabled the advent of new therapeutic models, such as conventional drugs adjustment by individual patient dosage and drug type and response, development of new drugs (read through, broker, enhancer, stabilizer, and amplifier compounds), genome editing by homologous recombination, zinc finger nucleases, TALEN (transcription activator-like effector nuclease), CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats-CRISPR-associated endonuclease 9), and gene therapy. Thus, we introduced the terms personalized medicine and precision medicine based on the CF. PMID:28676762
Antoñanzas, F; Juárez-Castelló, C A; Rodríguez-Ibeas, R
To contribute to the theoretical literature on personalized medicine, analyzing and integrating in an economic model, the decision a health authority faces when it must decide on the implementation of personalized medicine in a context of uncertainty. We carry out a stylized model to analyze the decision health authorities face when they do not have perfect information about the best treatment for a population of patients with a given disease. The health authorities decide whether to use a test to match patients with treatments (personalized medicine) to maximize health outcomes. Our model characterizes the situations under which personalized medicine dominates the alternative option of business-as-usual (treatment without previous test). We apply the model to the KRAS test for colorectal cancer, the PCA3 test for prostate cancer and the PCR test for the X-fragile syndrome, to illustrate how the parameters and variables of the model interact. Implementation of personalized medicine requires, as a necessary condition, having some tests with high discriminatory power. This is not a sufficient condition and expected health outcomes must be taken into account to make a decision. When the specificity and the sensitivity of the test are low, the health authority prefers to apply a treatment to all patients without using the test. When both characteristic of the test are high, the health authorities prefer to personalize the treatments when expected health outcomes are better than those under the standard treatment. When we applied the model to the three aforementioned tests, the results illustrate how decisions are adopted in real world. Although promising, the use of personalized medicine is still under scrutiny as there are important issues demanding a response. Personalized medicine may have an impact in the drug development processes, and contribute to the efficiency and effectiveness of health care delivery. Nevertheless, more accurate statistical and economic
Jensen, Slade O; van Hal, Sebastiaan J
A recent study identified pathogen factors associated with an increased mortality risk in Staphylococcus aureus bacteremia, using predictive modelling and a combination of genotypic, phenotypic, and clinical data. This study conceptually validates the benefit of personalized medicine and highlights the potential use of whole genome sequencing in infectious disease management. Copyright © 2017 Elsevier Ltd. All rights reserved.
Rhrissorrakrai, Kahn; Koyama, Takahiko; Parida, Laxmi
The confluence of genomic technologies and cognitive computing has brought us to the doorstep of widespread usage of personalized medicine. Cognitive systems, such as Watson for Genomics (WG), integrate massive amounts of new omic data with the current body of knowledge to assist physicians in analyzing and acting on patient's genomic profiles. Copyright © 2016 Elsevier Inc. All rights reserved.
Joyner, Michael J; Prendergast, Franklyn G
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
Mason-Suares, Heather; Sweetser, David A.; Lindeman, Neal I.; Morton, Cynthia C.
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
Mason-Suares, Heather; Sweetser, David A; Lindeman, Neal I; Morton, Cynthia C
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.
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
Shah, Rashmi R; Shah, Devron R
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. © 2012 The Authors
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
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
Jayachandran, D; Ramkrishna, U; Skiles, J; Renbarger, J; Ramkrishna, D
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
Pinho, João Renato Rebello; Sitnik, Roberta; Mangueira, Cristóvão Luis Pitangueira
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
Zeinalian, Mehrdad; Eshaghi, Mehdi; Naji, Homayoun; Marandi, Sayyed Mohammad Masoud; Sharbafchi, Mohammad Reza; Asgary, Sedigheh
Personalized medicine (PM) is a novel term used for a medical model in which all diagnostic, prognostic, and therapeutic aspects of a disease are individualized for a patient using specific molecular testing. In Iranian-Islamic traditional medicine (IITM) an ancient paradigm for PM has been described which has been introduced in this paper. We reviewed the ancient resources of IITM and many valid recent studies on personalized medicine and described an ancient feature of personalized medicine in comparison with new ones. According to IITM scholars, every person has an individual temperament which is concluded of four basic humors combination. The individual temper is influenced by internal and external factors such as age, gender, ethnicity, season, and environment. This variability leads to different physical and mental behaviors toward a particular condition; so if we could identify the patient's temper, we would predict his/her health-related behaviors rather than predisposition and prognosis to different diseases, and select the best treatment. This holistic viewpoint of IITM to the human health and disease justifies the variable phenotypes among similar illnesses; the fact around which more advanced high-tech researches are being developed to explore all specific molecular pathways. IITM offers an ancient comprehensive PM (APM) which is more available and inexpensive compared to the modern PM (MPM). Moreover, APM focuses more on fitness than illness in comparison to MPM. It seems more attention to APM introduced by IITM could help us to promote health community. Design studies using high-tech MPM techniques would likely lead to clarification of most molecular aspects of APM. PMID:26605230
Zeinalian, Mehrdad; Eshaghi, Mehdi; Naji, Homayoun; Marandi, Sayyed Mohammad Masoud; Sharbafchi, Mohammad Reza; Asgary, Sedigheh
Personalized medicine (PM) is a novel term used for a medical model in which all diagnostic, prognostic, and therapeutic aspects of a disease are individualized for a patient using specific molecular testing. In Iranian-Islamic traditional medicine (IITM) an ancient paradigm for PM has been described which has been introduced in this paper. We reviewed the ancient resources of IITM and many valid recent studies on personalized medicine and described an ancient feature of personalized medicine in comparison with new ones. According to IITM scholars, every person has an individual temperament which is concluded of four basic humors combination. The individual temper is influenced by internal and external factors such as age, gender, ethnicity, season, and environment. This variability leads to different physical and mental behaviors toward a particular condition; so if we could identify the patient's temper, we would predict his/her health-related behaviors rather than predisposition and prognosis to different diseases, and select the best treatment. This holistic viewpoint of IITM to the human health and disease justifies the variable phenotypes among similar illnesses; the fact around which more advanced high-tech researches are being developed to explore all specific molecular pathways. IITM offers an ancient comprehensive PM (APM) which is more available and inexpensive compared to the modern PM (MPM). Moreover, APM focuses more on fitness than illness in comparison to MPM. It seems more attention to APM introduced by IITM could help us to promote health community. Design studies using high-tech MPM techniques would likely lead to clarification of most molecular aspects of APM.
Rubin, G; Fleiss, D
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.
Duarte, Trevor T.; Spencer, Charles T.
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
Siest, Gérard; Auffray, Charles; Taniguchi, Naoyuki; Ingelman-Sundberg, Magnus; Murray, Helena; Visvikis-Siest, Sophie; Ansari, Marc; Marc, Janja; Jacobs, Peter; Meyer, Urs; Van Schaik, Ron H N; Müller, Mathias M; Wevers, Ron A; Simmaco, Maurizio; Kussmann, Martin; Manolopoulos, Vangelis G; Alizadeh, Behrooz Z; Beastall, Graham; Németh, György
The 7th Santorini Conference was held in Santorini, Greece, and brought together 200 participants from 40 countries in several continents, including Europe, USA but also Japan, Korea, Brazil and South Africa. The attendees had the opportunity to: listen to 60 oral presentations; participate in two lunch symposia; look at 103 posters, which were divided in two groups ('systems medicine and environment' and 'pharmacogenomics and cancer') and attend a dedicated exhibition with six companies. The meeting was organized by the Institut National de la Santé et de la Recherche Médicale (INSERM) U1122; IGE-PCV and by 'Biologie Prospective' with the collaboration of the European Society of Pharmacogenomics and Theranostics (ESPT), under the auspices of international organizations (e.g., International Federation of Clinical Chemistry and Laboratory medicine [IFCC], European Federation of Clinical Chemistry and Laboratory Medicine [EFLM], European Diagnostic Manufacturers Association [EDMA], Federation of European Pharmacological Societies [EPHAR], European Science Foundation [ESF]). The 3 days of the conference stimulated intensive discussions on systems biology and the influence of omics technologies on personalized health. Sixty speakers were invited or selected from early abstracts and gave presentations on the following topics: From systems biology to systems medicine/pharmacology; Omics/translating pharmacogenomics/proteomic biomarkers/metabolomics; Human nutrition and health/personalized medicine. We are summarizing here the main topics and presentations, according to the successive sessions.
Duarte, Trevor T; Spencer, Charles T
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.
Laksman, Zachary; Detsky, Allan S
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.
Lu, Yi-Fan; Goldstein, David B.; Angrist, Misha; Cavalleri, Gianpiero
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
Sneha, P; Doss, C George Priya
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.
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.
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
Beach, Glenn; OGrady, Ryan
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.
Elele, Ezinwa; Shen, Yueyang; Khusid, Boris
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.
Fenstermacher, David A; Wenham, Robert M; Rollison, Dana E; Dalton, William S
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.
Pijnenburg, Mariëlle W; Szefler, Stanley
Personalized medicine for children with asthma aims to provide a tailored management of asthma, which leads to faster and better asthma control, has less adverse events and may be cost saving. Several patient characteristics, lung function parameters and biomarkers have been shown useful in predicting treatment response or predicting successful reduction of asthma medication. As treatment response to the main asthma therapies is partly genetically determined, pharmacogenetics may open the way for personalized medicine in children with asthma. However, the number of genes identified for the various asthma drug response phenotypes remains small and randomized controlled trials are lacking. Biomarkers in exhaled breath or breath condensate remain promising but did not find their way from bench to bedside yet, except for the fraction of exhaled nitric oxide. E-health will most likely find its way to clinical practice and most interventions are at least non-inferior to usual care. More studies are needed on which interventions will benefit most individual children. Copyright © 2014 Elsevier Ltd. All rights reserved.
Dandona, Sonny; Roberts, Robert
Personalized medicine is the tailoring of the diagnosis, prevention, and treatment to the characteristics of each individual patient. In this review, we provide a status report on genetic variants that influence therapy with antiplatelet agents, warfarin, and statins. Resistance to clopidogrel, an antiplatelet therapy, has been shown to be present in 25% to 30% of Caucasians and an even higher percentage in Asians. Part of this resistance is because of the CYP2C19*2 allele. Administering clopidogrel on the basis of previous genetic testing remains controversial. A recent breakthrough in point-of-care genetic testing for clopidogrel might be significant, not only for genetic testing for clopidogrel, but for the whole of personalized medicine. Genetic testing for aspirin resistance is not yet recommended because of incomplete genetic data. Studies to determine the value of genetic testing before the administration of warfarin are ongoing. Testing for SLCO1B1 allele for individuals with muscle cramps who are taking statins could be very helpful but is not yet recommended as routine. Pharmacogenetics has the potential to customize therapy and move away from the current model of 1 drug fits all. Copyright © 2012 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
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
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.
Downing, Gregory J.
Remarkable advances in the fundamental knowledge about the biological basis of disease and technical advances in methods to assess genomic information have led the health care system to the threshold of personalized medicine. It is now feasible to consider strategic application of genomic information to guide patient management by being predictive, preemptive, and preventive, and enabling patient participation in medical decisions. Early evidence of this transition has some hallmarks of disruptive innovation to existing health care practices. Presented here is an examination of the changes underway to enable this new concept in health care in the United States, to improve precision and quality of care through innovations aimed at individualized approaches to medical decision making. A broad range of public policy positions will need to be considered for the health care delivery enterprise to accommodate the promise of this new science and technology for the benefit of patients. PMID:20135895
Rogowski, Wolf; Payne, Katherine; Schnell-Inderst, Petra; Manca, Andrea; Rochau, Ursula; Jahn, Beate; Alagoz, Oguzhan; Leidl, Reiner; Siebert, Uwe
This study assesses if, and how, existing methods for economic evaluation are applicable to the evaluation of personalized medicine (PM) and, if not, where extension to methods may be required. A structured workshop was held with a predefined group of experts (n = 47), and was run using a modified nominal group technique. Workshop findings were recorded using extensive note taking, and summarized using thematic data analysis. The workshop was complemented by structured literature searches. 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 spillover effects; meeting data requirements such as evidence on heterogeneity; and 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. 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.
Anaya, Juan-Manuel; Duarte-Rey, Carolina; Sarmiento-Monroy, Juan C; Bardey, David; Castiblanco, John; Rojas-Villarraga, Adriana
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. Copyright © 2016 Elsevier B.V. All rights reserved.
Aziz, Mohammad Azhar; Yousef, Zeyad; Saleh, Ayman M; Mohammad, Sameer; Al Knawy, Bandar
Efforts in colorectal cancer (CRC) research aim to improve early detection and treatment for metastatic stages which could translate into better prognosis of this disease. One of the major challenges that hinder these efforts is the heterogeneous nature of CRC and involvement of diverse molecular pathways. New large-scale 'omics' technologies are making it possible to generate, analyze and interpret biological data from molecular determinants of CRC. The developments of sophisticated computational analyses would allow information from different omics platforms to be integrated, thus providing new insights into the biology of CRC. Together, these technological advances and an improved mechanistic understanding might allow CRC to be clinically managed at the level of the individual patient. This review provides an account of the current challenges in CRC management and an insight into how new technologies could allow the development of personalized medicine for CRC. Copyright © 2017 Elsevier B.V. All rights reserved.
Mirsadeghi, Somayeh; Larijani, Bagher
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.
Weber, Wendell W
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.
Okimoto, Ross A; Bivona, Trever G
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
Greene, Casey S; Himmelstein, Daniel S; Nelson, Heather H; Kelsey, Karl T; Williams, Scott M; Andrew, Angeline S; Karagas, Margaret R; Moore, Jason H
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.
Dean, Charles E
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.
Gomes, Carolina C; Diniz, Marina G; Gomez, Ricardo S
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.  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.
Souslova, Tatiana; Marple, Teresa C; Spiekerman, A Michael; Mohammad, Amin A
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. © 2013 Elsevier Inc. All rights reserved.
Niederlag, W; Lemke, H U; Rienhoff, O
The individualization of medicine and healthcare appears to be following a general societal trend. The terms "personalized medicine" and "personal health" are used to describe this process. Here it must be emphasized that personalized medicine is not limited to pharmacogenomics, but that the spectrum of personalized medicine is much broader. Applications range from individualized diagnostics, patient-specific pharmacological therapy, therapy with individual prostheses and implants to therapy approaches using autologous cells, and from patient model-based therapy in the operating room, electronic patient records through to the individual care of patients in their home environment with the use of technical systems and services. Although in some areas practical solutions have already been found, most applications will not be fully developed for many years to come. Medical and information technology are essential to personalized medicine and personal health, each driving the other forward.
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.
Jung, Kyung-Ho; Lee, Kyung-Han
Clinical imaging creates visual representations of the body interior for disease assessment. The role of clinical imaging significantly overlaps with that of pathology, and diagnostic workflows largely depend on both fields. The field of clinical imaging is presently undergoing a radical change through the emergence of a new field called molecular imaging. This new technology, which lies at the intersection between imaging and molecular biology, enables noninvasive visualization of biochemical processes at the molecular level within living bodies. Molecular imaging differs from traditional anatomical imaging in that biomarkers known as imaging probes are used to visualize target molecules-of-interest. This ability opens up exciting new possibilities for applications in oncologic, neurological and cardiovascular diseases. Molecular imaging is expected to make major contributions to personalized medicine by allowing earlier diagnosis and predicting treatment response. The technique is also making a huge impact on pharmaceutical development by optimizing preclinical and clinical tests for new drug candidates. This review will describe the basic principles of molecular imaging and will briefly touch on three examples (from an immense list of new techniques) that may contribute to personalized medicine: receptor imaging, angiogenesis imaging, and apoptosis imaging.
Guo, Jennifer; Kamel-Reid, Suzanne; Rutherford, Michael; Hart, Jennifer; Melamed, Saul; Pollett, Aaron
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.
Chackalamannil, Samuel; Desai, Manoj C
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.
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.
Zinzindohoué, Franck; Zeitoun, Guy; Berger, Anne; Todosi, Ana-Maria; Marliot, Florence; Lagorce, Christine; Galon, Jérôme; Pagès, Franck
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.
Markus, Hugh S
Epidemiologic evidence supports a genetic predisposition to stroke. Recent advances, primarily using the genome-wide association study approach, are transforming what we know about the genetics of multifactorial stroke, and are identifying novel stroke genes. The current findings are consistent with different stroke subtypes having different genetic architecture. These discoveries may identify novel pathways involved in stroke pathogenesis, and suggest new treatment approaches. However, the already identified genetic variants explain only a small proportion of overall stroke risk, and therefore are not currently useful in predicting risk for the individual patient. Such risk prediction may become a reality as identification of a greater number of stroke risk variants that explain the majority of genetic risk proceeds, and perhaps when information on rare variants, identified by whole-genome sequencing, is also incorporated into risk algorithms. Pharmacogenomics may offer the potential for earlier implementation of 'personalized genetic' medicine. Genetic variants affecting clopidogrel and warfarin metabolism may identify non-responders and reduce side-effects, but these approaches have not yet been widely adopted in clinical practice.
Epidemiologic evidence supports a genetic predisposition to stroke. Recent advances, primarily using the genome-wide association study approach, are transforming what we know about the genetics of multifactorial stroke, and are identifying novel stroke genes. The current findings are consistent with different stroke subtypes having different genetic architecture. These discoveries may identify novel pathways involved in stroke pathogenesis, and suggest new treatment approaches. However, the already identified genetic variants explain only a small proportion of overall stroke risk, and therefore are not currently useful in predicting risk for the individual patient. Such risk prediction may become a reality as identification of a greater number of stroke risk variants that explain the majority of genetic risk proceeds, and perhaps when information on rare variants, identified by whole-genome sequencing, is also incorporated into risk algorithms. Pharmacogenomics may offer the potential for earlier implementation of 'personalized genetic' medicine. Genetic variants affecting clopidogrel and warfarin metabolism may identify non-responders and reduce side-effects, but these approaches have not yet been widely adopted in clinical practice. PMID:23016624
Hewson, Campbell; Shen, Chong Chi; Strachan, Clare; Norris, Pauline
Poor storage of medicines can reduce their efficacy, yet little is known about how people store medicines in their homes and elsewhere, why these locations are chosen, and whether the conditions are suitable for medicines storage. To investigate where medicines are commonly stored in New Zealand households, why, and the typical conditions-temperature and relative humidity-in those places of storage. Data from a large qualitative study on the meanings of medicines were analysed to explore where people store medicines in their households, and why. A data logger was used to log temperature and relative humidity in common medicine storage places, such as homes and cars. Kitchens and bathrooms were the most commonly reported storage places, with people influenced by convenience, desire to remember to take medicines, and child safety when deciding where to store medicines. High temperatures and humidity were found in kitchens and bathrooms, extreme temperatures in a car and a backpack, and extremely low temperatures in checked-in luggage on a plane. Temperature- and humidity-sensitive medicines should not be stored long-term in common storage locations, such as kitchens and bathrooms. Conditions in these places may not comply with the recommended storage conditions given by the manufacturer. Furthermore, medicines should not be left in backpacks or cars, especially if the vehicle is in the sun. Medicines that may degrade upon freezing and thawing-such as protein-containing medicines, emulsions, suspensions and some solutions-should not be stored in the cargo hold of a plane.
Bombard, Yvonne; Abelson, Julia; Simeonov, Dorina; Gauvin, Francois-Pierre
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.
Alzu'bi, Amal; Zhou, Leming; Watzlaf, Valerie
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.
Salari, Pooneh; Larijani, Bagher
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.
Scherbo, S N; Scherbo, D S
The development and application of biochips provide possibility to drastically transform laboratory medicine and to implement studies of arrays of biomarkers realizing approaches and concepts of personalized medicine. The main areas of application of microbiochips in laboratory medicine such as laboratory diagnostic, classification and prognosis of course of diseases, analysis of mechanisms of biologic processes are considered. The identification of inherent mutations in human genome is considered as perspective direction. These mutations cause various pathology and first of all oncologic diseases responsible for biotransformation of pharmaceuticals applied in chemotherapy of tumors in particular and also simultaneous identification of various infection agents (viruses, microorganisms, fungi, etc.) and their antibiotic-resistant forms. The role of biochips as a tool is demonstrated in genetic studies, technologies of genetic typing, large-scale international projects of studies of genome-wide screening of associations (GWAS).
Phillips, Kathryn A; Douglas, Michael P; Trosman, Julia R; Marshall, Deborah A
The growth of "big data" and the emphasis on patient-centered health care have led to the increasing use of two key technologies: personalized medicine and digital medicine. For these technologies to move into mainstream health care and be reimbursed by insurers, it will be essential to have evidence that their benefits provide reasonable value relative to their costs. These technologies, however, have complex characteristics that present challenges to the assessment of their economic value. Previous studies have identified the challenges for personalized medicine and thus this work informs the more nascent topic of digital medicine. To examine the methodological challenges and future opportunities for assessing the economic value of digital medicine, using personalized medicine as a comparison. We focused specifically on digital biomarker technologies and multigene tests. We identified similarities in these technologies that can present challenges to economic evaluation: multiple results, results with different types of utilities, secondary findings, downstream impact (including on family members), and interactive effects. Using a structured review, we found that there are few economic evaluations of digital biomarker technologies, with limited results. We conclude that more evidence on the effectiveness of digital medicine will be needed but that the experiences with personalized medicine can inform what data will be needed and how such analyses can be conducted. Our study points out the critical need for typologies and terminology for digital medicine technologies that would enable them to be classified in ways that will facilitate research on their effectiveness and value. Copyright © 2017 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.
Stake-Nilsson, Kerstin; Hultcrantz, Rolf; Unge, Peter; Wengström, Yvonne
The aim of this study was to describe the complementary and alternative medicine methods most commonly used to alleviate symptom distress in persons with functional gastrointestinal disorders. People with functional gastrointestinal disorders face many challenges in their everyday lives, and each individual has his/her own way of dealing with this illness. The experience of illness often leads persons with functional gastrointestinal disorders to complementary and alternative medicine as a viable healthcare choice. Quantitative and describing design. A study-specific complementary and alternative medicine questionnaire was used, including questions about complementary and alternative medicine methods used and the perceived effects of each method. Efficacy assessments for each method were preventive effect, partial symptom relief, total symptom relief or no effect. A total of 137 persons with functional gastrointestinal disorders answered the questionnaire, 62% (n = 85) women and 38% (n = 52) men. A total of 28 different complementary and alternative medicine methods were identified and grouped into four categories: nutritional, drug/biological, psychological activity and physical activity. All persons had tried at least one method, and most methods provided partial symptom relief. Persons with functional gastrointestinal disorders commonly use complementary and alternative medicine methods to alleviate symptoms. Nurses have a unique opportunity to expand their roles in this group of patients. Increased knowledge of complementary and alternative medicine practices would enable a more comprehensive patient assessment and a better plan for meaningful interventions that meet the needs of individual patients. © 2011 Blackwell Publishing Ltd.
Lopez-Campos, Guillermo; Ofoghi, Bahadorreza; Martin-Sanchez, Fernando
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.
Minich, Deanna M.; Bland, Jeffrey S.
Public health recommendations for lifestyle modification, including diet and physical activity, have been widely disseminated for the prevention and treatment of disease. These guidelines are intended for the overall population without significant consideration for the individual with respect to one's genes and environment. Personalized lifestyle medicine is a newly developed term that refers to an approach to medicine in which an individual's health metrics from point-of-care diagnostics are used to develop lifestyle medicine-oriented therapeutic strategies for improving individual health outcomes in managing chronic disease. Examples of the application of personalized lifestyle medicine to patient care include the identification of genetic variants through laboratory tests and/or functional biomarkers for the purpose of designing patient-specific prescriptions for diet, exercise, stress, and environment. Personalized lifestyle medicine can provide solutions to chronic health problems by harnessing innovative and evolving technologies based on recent discoveries in genomics, epigenetics, systems biology, life and behavioral sciences, and diagnostics and clinical medicine. A comprehensive, personalized approach to medicine is required to promote the safety of therapeutics and reduce the cost of chronic disease. Personalized lifestyle medicine may provide a novel means of addressing a patient's health by empowering them with information they need to regain control of their health. PMID:23878520
Di Sanzo, Mariantonia; Fineschi, Vittorio; Borro, Marina; La Russa, Raffaele; Santurro, Alessandro; Scopetti, Matteo; Simmaco, Maurizio; Frati, Paola
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.
Epstein, Robert S; Teagarden, J Russell
Comparative effectiveness research (CER) is generating intense attention as interest grows in finding new and better drug technology assessment processes. The federal government is supporting the expansion of CER through funding made available in the American Recovery and Reinvestment Act of 2009 (ARRA) and by establishing the Patient-Centered Outcomes Research Institute through the Patient Protection and Affordable Care Act of 2010. At the same time, personalized medicine is generating debate about its place in clinical medicine, and so, naturally, how CER can or cannot play a role in personalized medicine is part of these debates. At the heart of the debate around the role of CER in personalized medicine is the nature of personalized medicine and how it fits within contemporary clinical research concepts. We maintain in this article that CER can serve to catalyze personalized medicine, but we recognize that, for this to happen, researchers will need to embrace new data sources and new analytic approaches. We also recognize that drug technology assessment processes will have to undergo necessary adaptations to accommodate CER as configured for personalized medicine, and that clinicians will need to be educated appropriately and provided access to decision-support systems through health information technology to use the information coming from this research. To illustrate our argument, we describe two ongoing CER studies funded and managed in the private sector evaluating personalized medicine interventions that have important clinical and financial implications. One of the studies investigates the clinical and financial effects of pharmacogenomic testing for warfarin as prescribed in conditions of typical practice settings. The other study is also set in community practice settings and compares cardiovascular outcomes of patients receiving clopidogrel who are extensive metabolizer phenotypes for the cytochrome P450 2C19 hepatic isoenzyme with all patients
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.
Hayes, Daniel F; Markus, Hugh S; Leslie, R David; Topol, Eric J
Personalized medicine is increasingly being employed across many areas of clinical practice, as genes associated with specific diseases are discovered and targeted therapies are developed. Mobile apps are also beginning to be used in medicine with the aim of providing a personalized approach to disease management. In some areas of medicine, patient-tailored risk prediction and treatment are applied routinely in the clinic, whereas in other fields, more work is required to translate scientific advances into individualized treatment. In this forum article, we asked specialists in oncology, neurology, endocrinology and mobile health technology to discuss where we are in terms of personalized medicine, and address their visions for the future and the challenges that remain in their respective fields.
Personalized medicine is increasingly being employed across many areas of clinical practice, as genes associated with specific diseases are discovered and targeted therapies are developed. Mobile apps are also beginning to be used in medicine with the aim of providing a personalized approach to disease management. In some areas of medicine, patient-tailored risk prediction and treatment are applied routinely in the clinic, whereas in other fields, more work is required to translate scientific advances into individualized treatment. In this forum article, we asked specialists in oncology, neurology, endocrinology and mobile health technology to discuss where we are in terms of personalized medicine, and address their visions for the future and the challenges that remain in their respective fields. PMID:24580858
Priyadharshini, V S; Teran, Luis M
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.
Zhang, Li; Hong, Huixiao
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.
Antoñanzas, Fernando; Juárez-Castelló, Carmelo A; Rodríguez-Ibeas, Roberto
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.
Prasher, Bhavana; Gibson, Greg; Mukerji, Mitali
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
Payne, Katherine; Annemans, Lieven
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.
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.
Alzu'bi, Amal; Zhou, Leming; Watzlaf, Valerie
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
Brodin, Petter; Valentini, Davide; Uhlin, Michael; Mattsson, Jonas; Zumla, Alimuddin; Maeurer, Markus J
The immune system is an anatomically structured, orchestrated interaction of different cell types that communicate via a large number of receptors recognizing both soluble and cellular ligands. Recent technological advances now allow large-scale measurements for better appreciation of this complexity. Despite these advances, only a few immunological parameters are routinely measured in clinical practice. The authors believe that these measurements are insufficient to describe the immune function of individual patients and thus cannot be used to evaluate immune-mediated diseases or response to therapy. Our current knowledge of immunology comes largely from work in murine model systems where the immune system has been characterized in great detail. This impressive volume of knowledge has proven to be difficult to translate into novel therapies in humans; one reason for this is the lack of large-scale immune monitoring allowing for systems-wide analysis of the human immune system. The authors propose a systems approach to immunology, where the focus is moved from analysis of individual cell types towards more integrated studies of the entire immune system. Exercising 'systems immunology' in preclinical research, during drug development and in patients undergoing therapies affecting the immune system, will enable us to improve clinical results through personalized medicine and help to define clinically relevant patterns of immune reactivity.
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.
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.
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
Perales, Alberto; Mendoza, Juan; Armas, Rodolfo; Cluzet, Oscar
Person-centered medicine (PCM) is a programmatic global initiative led by the International College of Person-Centered Medicine. It has recently emerged in Latin America. It requires the use of scientific research as an instrument to generate the best clinical evidence, and humanism as the essence of medicine to help mankind. It is focused on not only combatting disease but also promoting the display of healthy human being potentials towards achieving well-being and comprehensive growth. Although the humanism of medicine in Latin America has been a distinctive characteristic of its practice, now, there is a worrying decline in its impact on healthcare. This article summarizes the Latin American perspective from four countries. Needs and experiences are compared and responses that arise in view of the dehumanizing influence of technology and health management as a consumption good are described.
Blau, Ashley; Brown, Alison; Mahanta, Lisa; Amr, Sami S.
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
Blau, Ashley; Brown, Alison; Mahanta, Lisa; Amr, Sami S
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.
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
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
Gupta, Pooja D.
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
Gupta, Pooja D
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.
Aghaei Meybodi, Hamid Reza; Hasanzad, Mandana; Larijani, Bagher
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.
Billaud, Marc; Guchet, Xavier
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. © 2015 médecine/sciences – Inserm.
Jefferys, Benjamin R.; Nwankwo, Iheanyi; Neri, Elias; Chang, David C. W.; Shamardin, Lev; Hänold, Stefanie; Graf, Norbert; Forgó, Nikolaus; Coveney, Peter
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
Jefferys, Benjamin R; Nwankwo, Iheanyi; Neri, Elias; Chang, David C W; Shamardin, Lev; Hänold, Stefanie; Graf, Norbert; Forgó, Nikolaus; Coveney, Peter
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.
Glurich, Ingrid; Acharya, Amit; Shukla, Sanjay K.; Nycz, Greg R; Brilliant, Murray H.
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
Kim, Joosup; Thrift, Amanda G; Nelson, Mark R; Bladin, Christopher F; Cadilhac, Dominique A
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.
Kim, Joosup; Thrift, Amanda G; Nelson, Mark R; Bladin, Christopher F; Cadilhac, Dominique A
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. PMID:26664130
Wang, Zhijun; Liu, Xuefeng; Ho, Rebecca Lucinda Ka Yan; Lam, Christopher Wai Kei; Chow, Moses Sing Sum
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.
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
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…
Braš, Marijana; Dorđević, Veljko; Milunović, Vibor; Brajković, Lovorka; Miličić, Davor; Konopka, Lukasz
The main aim of this brief overview is to explore the concepts of person-centered medicine and personalized medicine in the areas of chronic pain research and management. Through several definitions and paradigms of pain, the authors introduce the complexity of pain phenomenology in order to establish the challenge of person-centered and personalized medicine in everyday practice. By providing deeper insight into fibromyalgia, its presentation, biology and treatment, several questions are addressed, ranging from person-centered diagnosis to personalizing the various processes of the fibromyalgia spectrum complex. By reviewing current treatment options and evaluating treatment pitfalls derived from methodological flaws in current research, the authors discuss various possibilities of personalizing treatment and, therefore, propose how the use of these two paradigms could enhance outcomes in chronic pain management. If we wish to make comments about enhanced outcomes we need to talk about outcomes of pain treatments, we need to discuss what successful treatment is from the patient's point of view as well as in the reviewed models.
Esplin, Edward D; Oei, Ling; Snyder, Michael P
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
Kłak, Anna; Raciborski, Filip; Krzych-Fałta, Edyta; Opoczyńska-Świeżewska, Dagmara; Szymański, Jakub; Lipiec, Agnieszka; Piekarska, Barbara; Sybilski, Adam; Tomaszewska, Aneta; Samoliński, Bolesław
The aim of the study is to indicate the relation between the use of alternative medicine and the occurrence of allergic diseases in the Polish population of adults in the age of 20-44 years. Moreover the additional aim of the study is to define the relation between the sex, age and place of living and the use of alternative medicine. The data from the project Epidemiology of Allergic Diseases in Poland (ECAP) has been used for analysis. This project was a continuation of the European Community Respiratory Health Survey II. The questions on alternative medicine were asked to the group of 4671 respondents in the age of 20-44 years. Additionally outpatient tests were performed in order to confirm the diagnosis of allergic diseases. The total of 22.2% of respondents that participated in the study have ever used alternative medicine (n = 4621). A statistically significant relation between the use of alternative medicine and declaration of allergic diseases and asthma symptoms has been demonstrated (p &amp;amp;amp;amp;lt; 0.001). No statistically significant relation between the use of alternative medicine by persons diagnosed by a doctor with any form of asthma or seasonal allergic rhinitis (p &amp;amp;amp;amp;gt; 0.05) has been demonstrated. The occurrence of allergic diseases and asthma influences the frequency of alternative medicine use. However the frequency of alternative medicine use does not depend on allergic disease or asthma being confirmed by a doctor.
Qin, C; Ma, X; Tian, J
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.
Waldman, S A; Terzic, A
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.
Tarter, Ralph E.; Kirisci, Levent; Ridenour, Ty; Bogen, Debra
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
Nicotine replacement therapies (NRT) are powerful tools for the successful treatment of nicotine addiction and tobacco use. The medicines are clinically effective, supported by the Framework Convention on Tobacco Control, and are now World Health Organization-approved essential medicines. Enabling global access to NRT remains a challenge given ongoing confusion and misperceptions about their efficacy, cost-effectiveness, and availability with respect to other tobacco control and public health opportunities. In this commentary, we review existing evidence and guidelines to make the case for global access to NRT highlighting the smoker's right to access treatment to sensibly address nicotine addiction. PMID:21092092
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
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
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.
Binefa, Gemma; Rodríguez-Moranta, Francisco; Teule, Àlex; Medina-Hayas, Manuel
Colorectal cancer (CRC) is a very heterogeneous disease that is caused by the interaction of genetic and environmental factors. CRC develops through a gradual accumulation of genetic and epigenetic changes, leading to the transformation of normal colonic mucosa into invasive cancer. CRC is one of the most prevalent and incident cancers worldwide, as well as one of the most deadly. Approximately 1235108 people are diagnosed annually with CRC, and 609051 die from CRC annually. The World Health Organization estimates an increase of 77% in the number of newly diagnosed cases of CRC and an increase of 80% in deaths from CRC by 2030. The incidence of CRC can benefit from different strategies depending on its stage: health promotion through health education campaigns (when the disease is not yet present), the implementation of screening programs (for detection of the disease in its early stages), and the development of nearly personalized treatments according to both patient characteristics (age, sex) and the cancer itself (gene expression). Although there are different strategies for screening and although the number of such strategies is increasing due to the potential of emerging technologies in molecular marker application, not all strategies meet the criteria required for screening tests in population programs; the three most accepted tests are the fecal occult blood test (FOBT), colonoscopy and sigmoidoscopy. FOBT is the most used method for CRC screening worldwide and is also the primary choice in most population-based screening programs in Europe. Due to its non-invasive nature and low cost, it is one of the most accepted techniques by population. CRC is a very heterogeneous disease, and with a few exceptions (APC, p53, KRAS), most of the genes involved in CRC are observed in a small percentage of cases. The design of genetic and epigenetic marker panels that are able to provide maximum coverage in the diagnosis of colorectal neoplasia seems a reasonable strategy
Smoller, Jordan W; Karlson, Elizabeth W; Green, Robert C; Kathiresan, Sekar; MacArthur, Daniel G; Talkowski, Michael E; Murphy, Shawn N; Weiss, Scott T
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.
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
The purpose of this study was to define and describe the personal and professional profile of mountain medicine physicians including general physical training information and to include a detailed overview of the practice of mountain sports. A group of physicians participating in a specialized mountain medicine education program filled out a standardized questionnaire. The data obtained from this questionnaire were first analyzed in a descriptive way and then by statistical methods (chi2 test, t test, and analysis of variance). Detailed results have been provided for gender, age, marital status, general training frequency and methods, professional status, additional medical qualifications, memberships in professional societies and alpine clubs, mountain sports practice, and injuries sustained during the practice of mountain sports. This study has provided a detailed overview concerning the personal and professional profile of mountain medicine physicians. Course organizers as well as official commissions regulating the education in mountain medicine will be able to use this information to adapt and optimize the courses and the recommendations/requirements as detailed by the UIAA-ICAR-ISMM (Union Internationale des Associations Alpinistes, International Commission for Alpine Rescue, International Society for Mountain Medicine).
Cutter, Gary R; Liu, Yuliang
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.
Molnár, Judit Mária; Magyarósi, Szilvia; Németh, György
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.
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
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
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
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.
Carrera, Pricivel M; Olver, Ian
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.
Sheldon, M G
A working party with representatives from the Royal College of General Practitioners and the Churches' Council for Health and Healing has produced a report on the Christian approach to whole-person medicine. This emphasizes the importance of including the spiritual dimension of man in health care problems and urges closer cooperation between health care professionals and Christian ministers. Some of the difficulties inherent in this approach are highlighted in this paper and some proposals for further progress outlined. PMID:2559995
Amarie, Dragos; Glazier, James A.
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
Ponomarenko, Mikhail; Rasskazov, Dmitry; Chadaeva, Irina; Sharypova, Ekaterina; Ponomarenko, Petr; Arkova, Olga; Kashina, Elena; Ivanisenko, Nikita; Zhechev, Dmitry; Savinkova, Ludmila; Kolchanov, Nikolay
Year after year, conditions, quality, and duration of human lives have been improving due to the progress of science, technology, education, and medicine, which however has a downside. Owing to improvement in children's nutrition, developmental acceleration occurs that imbalances a child's system. Because of virtual worlds of the Internet, social experience of teenagers expands and clashes with puberty of adolescents. Due to the comfort of cities, urbanization emerges and causes stress to adults because of artificial light, noise, pollution, violations of personal space, and family disruption. At old age, all these factors taken together contribute to loneliness, cancer, diabetes, drug addiction, and sporadic Alzheimer's disease, which shorten the lifespan, as reviewed in the US, 1990-2010. That is why, a person may ask oneself: "What can I do now to keep my health in my old age?" To help them, we provide this comprehensive review on predictive preventive personalized medicine. This branch of molecular medicine uses single nucleotide polymorphisms to prevent diseases on the basis of the difference between the individual and reference human genomes.
Sirotti, Silvia; Generali, Elena; Ceribelli, Angela; Isailovic, Natasa; De Santis, Maria; Selmi, Carlo
The sequencing of the human genome is now well recognized as the starting point of personalized medicine. Nonetheless, everyone is unique and can develop different phenotypes of the same disease, despite identical genotypes, as well illustrated by discordant monozygotic twins. To recognize these differences, one of the easiest and most familiar examples of biomarkers capable of identifying and predicting the outcome of patients is represented by serum autoantibodies. In this review, we will describe the concept of personalized medicine and discuss the predictive, prognostic and preventive role of antinuclear antibodies (ANA), anti-citrullinated peptide antibodies (ACPA), rare autoantibodies and anti-drug antibodies (ADA), to evaluate how these can help to identify different disease immune phenotypes and to choose the best option for treating and monitoring rheumatic patients in everyday practice. The importance of ANA resides in the prediction of clinical manifestations in systemic sclerosis and systemic lupus erythematosus and their association with malignancies. ACPA have a predictive role in rheumatoid arthritis, they are associated with the development of a more aggressive disease, extra-articular manifestations and premature mortality in RA patients; moreover, they are capable of predicting therapeutic response. Rare autoantibodies are associated with different disease manifestations and also with a greater incidence of cancer. The determination of ADA levels may be useful in patients where the clinical efficacy of TNF-α inhibitor has dropped, for the assessment of a right management. The resulting scenario supports serum autoantibodies as the cornerstone of personalized medicine in autoimmune diseases.
Abul-Husn, Noura S; Owusu Obeng, Aniwaa; Sanderson, Saskia C; Gottesman, Omri; Scott, Stuart A
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
Raia, Federica; Deng, Mario C
In the US population of 300 million, 3 million have heart failure with reduced ejection fraction and 300,000 have advanced heart failure. Long-term mechanical circulatory support will, within the next decade, be recommended to 30,000 patients annually in the USA, 3000 undergo heart transplantation annually. What do these advances mean for persons suffering from advanced heart failure and their loved ones/caregivers? In this perspective article, we discuss - by exemplifying a case report of a 27-year-old man receiving a Total Artificial Heart - a practice concept of modern medicine that fully incorporates the patient's personhood perspective which we have termed Relational Medicine™. From this case study, it becomes apparent that the successful practice of modern cardiovascular medicine requires the person-person encounter as a core practice element.
de la Iglesia, Diana; García-Remesal, Miguel; de la Calle, Guillermo; Kulikowski, Casimir; Sanz, Ferran; Maojo, Víctor
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.
Shabaruddin, Fatiha H; Fleeman, Nigel D; Payne, Katherine
Personalized medicine, with the aim of safely, effectively, and cost-effectively targeting treatment to a prespecified patient population, has always been a long-time goal within health care. It is often argued that personalizing treatment will inevitably improve clinical outcomes for patients and help achieve more effective use of health care resources. Demand is increasing for demonstrable evidence of clinical and cost-effectiveness to support the use of personalized medicine in health care. This paper begins with an overview of the existing challenges in conducting economic evaluations of genetics- and genomics-targeted technologies, as an example of personalized medicine. Our paper illustrates the complexity of the challenges faced by these technologies by highlighting the variations in the issues faced by diagnostic tests for somatic variations, generally referring to genetic variation in a tumor, and germline variations, generally referring to inherited genetic variation in enzymes involved in drug metabolic pathways. These tests are typically aimed at stratifying patient populations into subgroups on the basis of clinical effectiveness (response) or safety (avoidance of adverse events). The paper summarizes the data requirements for economic evaluations of genetics and genomics-based technologies while outlining that the main challenges relating to data requirements revolve around the availability and quality of existing data. We conclude by discussing current developments aimed to address the challenges of assessing the cost-effectiveness of genetics and genomics-based technologies, which revolve around two central issues that are interlinked: the need to adapt available evaluation methods and identifying who is responsible for generating evidence for these technologies. PMID:26309416
Shabaruddin, Fatiha H; Fleeman, Nigel D; Payne, Katherine
Personalized medicine, with the aim of safely, effectively, and cost-effectively targeting treatment to a prespecified patient population, has always been a long-time goal within health care. It is often argued that personalizing treatment will inevitably improve clinical outcomes for patients and help achieve more effective use of health care resources. Demand is increasing for demonstrable evidence of clinical and cost-effectiveness to support the use of personalized medicine in health care. This paper begins with an overview of the existing challenges in conducting economic evaluations of genetics- and genomics-targeted technologies, as an example of personalized medicine. Our paper illustrates the complexity of the challenges faced by these technologies by highlighting the variations in the issues faced by diagnostic tests for somatic variations, generally referring to genetic variation in a tumor, and germline variations, generally referring to inherited genetic variation in enzymes involved in drug metabolic pathways. These tests are typically aimed at stratifying patient populations into subgroups on the basis of clinical effectiveness (response) or safety (avoidance of adverse events). The paper summarizes the data requirements for economic evaluations of genetics and genomics-based technologies while outlining that the main challenges relating to data requirements revolve around the availability and quality of existing data. We conclude by discussing current developments aimed to address the challenges of assessing the cost-effectiveness of genetics and genomics-based technologies, which revolve around two central issues that are interlinked: the need to adapt available evaluation methods and identifying who is responsible for generating evidence for these technologies.
Chapman, Benjamin P.; Roberts, Brent; Duberstein, Paul
We review evidence for links between personality traits and longevity. We provide an overview of personality for health scientists, using the primary organizing framework used in the study of personality and longevity. We then review data on various aspects of personality linked to longevity. In general, there is good evidence that higher level of conscientiousness and lower levels of hostility and Type D or “distressed” personality are associated with greater longevity. Limited evidence suggests that extraversion, openness, perceived control, and low levels of emotional suppression may be associated with longer lifespan. Findings regarding neuroticism are mixed, supporting the notion that many component(s) of neuroticism detract from life expectancy, but some components at some levels may be healthy or protective. Overall, evidence suggests various personality traits are significant predictors of longevity and points to several promising directions for further study. We conclude by discussing the implications of these links for epidemiologic research and personalized medicine and lay out a translational research agenda for integrating the psychology of individual differences into public health and medicine. PMID:21766032
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.
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
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.
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.
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
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.
Harris, David T
Regenerative medicine, tissue engineering and gene therapy offer the opportunity to treat and cure many of today's intractable afflictions. These approaches to personalized medicine often utilize stem cells to accomplish these goals. However, stem cells can be negatively affected by donor variables such as age and health status at the time of collection, compromising their efficacy. Stem cell banking offers the opportunity to cryogenically preserve stem cells at their most potent state for later use in these applications. Practical stem cell sources include bone marrow, umbilical cord blood and tissue, and adipose tissue. Each of these sources contains stem cells that can be obtained from most individuals, without too much difficulty and in an economical fashion. This review will discuss the advantages and disadvantages of each stem cell source, factors to be considered when contemplating banking each stem cell source, the methodology required to bank each stem cell source, and finally, current and future clinical uses of each stem cell source.
Weiss, Scott T.; Shin, Meini Sumbada
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
Malek, N P
Personalized medicine is not a new concept. The renaissance of the term is due to the enormous progress in gene sequencing technology and functional imaging, as well as the development of targeted therapies. Application of these technologies in clinical medicine will necessitate infrastructural as well as organizational and educational changes in the healthcare system. An important change required already in the short-term is the introduction of centralized structures, preferably in university clinics, which adopt these innovations and incorporate them into clinical care. Simultaneously, the collation and use of large quantities of relevant data from highly variable sources must be successfully mastered, in order to pave the way for disruptive technologies such as artificial intelligence.
Nunn, Adrian D
The Food and Drug Administration has described their view of the role that imaging will play in the approval, and perhaps postapproval, use of new therapeutic drugs. The therapeutic drug industry and regulatory authorities have turned to imaging to help them achieve better efficiency and efficacy. We must extend this initiative by demonstrating that molecular imaging can also improve the efficiency and efficacy of routine treatment with these same drugs. The role of molecular imaging in personalized medicine, using targeted drugs in oncology, is very attractive because of the regional information that it provides (in many cases, with a functional or dynamic component), which cannot be provided by in vitro methods ("regional proteomics"). There is great potential for molecular imaging to play a major role in selecting appropriate patients and providing early proof of response, which is critical to addressing the conflict between the high price of treatment and limited reimbursement budgets. This is a new venture in both molecular imaging and targeted drugs. However, there are various regulatory, financial, and practical barriers that must be overcome to achieve this aim, in addition to the normal scientific challenges of drug discovery. There is an urgent need to reduce the cost (i.e., time and money) of developing imaging agents for routine clinical use. The mismatch between the current regulations and personalized medicine includes molecular imaging and requires the engagement of the regulatory authorities to correct. Therapeutic companies must be engaged early in the development of new targeted drugs and molecular imaging agents to improve the fit between the two drug types. Clinical trials must be performed to generate data that not only shows the efficacy of imaging plus therapy in a medical sense, but also in a financial sense. Molecular imaging must be accepted as not just good science but also as central to routine patient management in the personalized
Gonzalez de Castro, D; Clarke, P A; Al-Lazikani, B; Workman, P
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
Glurich, Ingrid; Acharya, Amit; Brilliant, Murray H.; Shukla, Sanjay K.
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
Metodiev, Metodi V
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.
Computer-aided surgery (CAS) is now nearly 30 years old. It has brought to surgery a variety of tools, techniques, and paradigm changes that have had an impact on how surgeries are planned, executed, and evaluated. In this review, we examine the predictive, preventive, and personalized medicine (PPPM) aspects of CAS. We present a brief history of CAS, summarize its the state of the art, and discuss current trends and future developments related to PPPM. Of the three Ps, we note that the most important impact of CAS is on Personalization, in all the steps of the surgical treatment: preoperative planning, intraoperative execution, and postoperative evaluation. Prediction in CAS is reflected in the preoperative evaluation of the various surgical options and in the evaluation of the possible surgical outcomes. Prevention in CAS is related to intraoperative execution, to help prevent possible surgical complications. We foresee that CAS will play an increasingly important role in PPPM in the coming years.
Liang, Nicholas; Trujillo, Cleber A; Negraes, Priscilla D; Muotri, Alysson R; Lameu, Claudiana; Ulrich, Henning
Human induced pluripotent stem cells (iPSCs) represent a revolutionary tool for disease modeling and drug discovery. The generation of tissue-relevant cell types exhibiting a patient's genetic and molecular background offers the ability to develop individual and effective therapies. In this review, we present some major achievements in the neuroscience field using iPSCs and discuss promising perspectives in personalized medicine. In addition to disease modeling, the understanding of the cellular and molecular basis of neurological disorders is explored, including the discovery of new targets and potential drugs. Ultimately, we highlight how iPSC technology, together with genome editing approaches, may bring a deep impact on pre-clinical trials by reducing costs and increasing the success of treatments in a personalized fashion. Copyright © 2017 Elsevier Inc. All rights reserved.
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
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.
Miller, Diane B; O'Callaghan, James P
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
The purpose of this article is to provide a brief overview of the background, basic principles, technological evolution, clinical capabilities, and future directions for functional tumor imaging as PET evolves from the conventional photomultiplier tube-based platform into a fully digital detector acquisition platform. The recent introduction of solid-state digital photon counting PET detector is the latest evolution of clinical PET which enables faster time-of-flight timing resolution that leads to more precise localization of the annihilation events and further contributes to reduction in partial volume and thus makes high definition and ultrahigh definition PET imaging feasible with current standard acquisition procedures. The technological advances of digital PET can be further leveraged by optimizing many of the acquisition and reconstruction methodologies to achieve faster image acquisition to improve cancer patient throughput, lower patient dose in accordance with ALARA, and improved quantitative accuracy to enable biomarker capability. Digital PET technology will advance molecular imaging capabilities beyond oncology and enable Precision Nuclear Medicine.
Li, Aihua; Meyre, David
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
Vig, Hetal S.; Wang, Catharine
Practice changes in cancer genetic counseling have occurred to meet the demand for cancer genetic services. As cancer genetics continues to impact not only prevention strategies but also treatment decisions, current cancer genetic counseling models will need to be tailored to accommodate emerging clinical indications. These clinical indications include: surgical prophylactic bilateral mastectomy candidates, PARP-inhibitor candidates, patients with abnormal tumor screening results for Lynch syndrome, and post-test counseling patients (after genetic testing is ordered by another healthcare provider). A more personalized, multidisciplinary approach to selecting the best framework, for a given clinical indication, may become increasingly necessary in this era of personalized medicine. PMID:22419176
Costa e Silva, Jorge A
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.
Chen, Yu-Chuan; Chen, James J
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.
Cheng, Tingting; Zhan, Xianquan
Predictive, preventive, and personalized medicine (PPPM) is the hot spot and future direction in the field of cancer. Cancer is a complex, whole-body disease that involved multi-factors, multi-processes, and multi-consequences. A series of molecular alterations at different levels of genes (genome), RNAs (transcriptome), proteins (proteome), peptides (peptidome), metabolites (metabolome), and imaging characteristics (radiome) that resulted from exogenous and endogenous carcinogens are involved in tumorigenesis and mutually associate and function in a network system, thus determines the difficulty in the use of a single molecule as biomarker for personalized prediction, prevention, diagnosis, and treatment for cancer. A key molecule-panel is necessary for accurate PPPM practice. Pattern recognition is an effective methodology to discover key molecule-panel for cancer. The modern omics, computation biology, and systems biology technologies lead to the possibility in recognizing really reliable molecular pattern for PPPM practice in cancer. The present article reviewed the pathophysiological basis, methodology, and perspective usages of pattern recognition for PPPM in cancer so that our previous opinion on multi-parameter strategies for PPPM in cancer is translated into real research and development of PPPM or precision medicine (PM) in cancer.
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.
Ahmed, Minhaz Uddin; Saaem, Ishtiaq; Wu, Pae C; Brown, April S
Exploiting the burgeoning fields of genomics, proteomics and metabolomics improves understanding of human physiology and, critically, the mutations that signal disease susceptibility. Through these emerging fields, rational design approaches to diagnosis, drug development and ultimately personalized medicine are possible. Personalized medicine and point-of-care testing techniques must fulfill a host of constraints for real-world applicability. Point-of-care devices (POCDs) must ultimately provide a cost-effective alternative to expensive and time-consuming laboratory tests in order to assist health care personnel with disease diagnosis and treatment decisions. Sensor technologies are also expanding beyond the more traditional classes of biomarkers--nucleic acids and proteins--to metabolites and direct detection of pathogens, ultimately increasing the palette of available techniques for the use of personalized medicine. The technologies needed to perform such diagnostics have also been rapidly evolving, with each generation being increasingly sensitive and selective while being more resource conscious. Ultimately, the final hurdle for all such technologies is to be able to drive consumer adoption and achieve a meaningful medical outcome for the patient.
Shah, Rashmi R; Smith, Robert L
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
Milani, L; Leitsalu, L; Metspalu, A
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
Shah, Rashmi R; Smith, Robert L
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; (ii) co
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
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. © 2015 Société Française de Pharmacologie et de Thérapeutique.
Chae, Han; Lee, Siwoo; Park, Soo Hyun; Jang, Eunsu; Lee, Soo Jin
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
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
Israel, Salomon; Moffitt, Terrie E; Belsky, Daniel W; Hancox, Robert J; Poulton, Richie; Roberts, Brent; Thomson, W Murray; Caspi, Avshalom
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
Israel, Salomon; Moffitt, Terrie E.; Belsky, Daniel W.; Hancox, Robert J.; Poulton, Richie; Roberts, Brent; Thomson, W. Murray; Caspi, Avshalom
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
Annemans, Lieven; Redekop, Ken; Payne, Katherine
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
Rossi, S; Christ-Neumann, ML; Rüping, S; Buffa, FM; Wegener, D; McVie, G; Coveney, PV; Graf, N; Delorenzi, M
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. PMID:22276060
Rossi, S; Christ-Neumann, Ml; Rüping, S; Buffa, Fm; Wegener, D; McVie, G; Coveney, Pv; Graf, N; Delorenzi, M
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.
Physicians are beginning to see the need to heal themselves, and to change the statistics on their morbidity, mortality, and marital distress. Stress for physicians comes from five sources: the nature of the work, their training, their public image, their families, and themselves. Medical school stress as an ‘initiation rite’ is discussed. Three theoretical frameworks are described which will enable family physicians to take a closer look at their own marriages and families as well as those of patients. A systems orientation will help avoid blame of self or partner or parents; object relations theory clarifies the human tendency to repeat history; a theory connecting self-esteem and communication styles will allow physicians to be more open at work and with their families. The importance of developing priorities and meaningful interests outside medicine is also discussed. PMID:21267270
Boutin, Natalie; Holzbach, Ana; Mahanta, Lisa; Aldama, Jackie; Cerretani, Xander; Embree, Kevin; Leon, Irene; Rathi, Neeta; Vickers, Matilde
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.
Boutin, Natalie; Holzbach, Ana; Mahanta, Lisa; Aldama, Jackie; Cerretani, Xander; Embree, Kevin; Leon, Irene; Rathi, Neeta; Vickers, Matilde
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
Pellowska, M; Merk, D; Schubert-Zsilavecz, M
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.
Teran, Luis M; Montes-Vizuet, Rosalia; Li, Xinping; Franz, Thomas
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.
Greeley, Siri Atma W.; Tucker, Susan E.; Naylor, Rochelle N.; Bell, Graeme I.; Philipson, Louis H.
Neonatal diabetes mellitus occurs in approximately 1 out of every 100,000 live births. It can be either permanent or transient, and recent studies indicate that is likely to have an underlying genetic cause, particularly when diagnosed before 6 months of age. Permanent neonatal diabetes is most commonly due to activating mutations in either of the genes encoding the two subunits of the ATP-sensitive potassium channel. In most of these patients, switching from insulin to oral sulfonylurea therapy leads to improved metabolic control, as well as possible amelioration of occasional associated neurodevelopmental disabilities. It remains to be determined what is the most appropriate treatment of other causes. The diagnosis and treatment of neonatal diabetes, therefore, represents a model for personalized medicine. PMID:20434356
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
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
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.
Kidd, Brian A; Readhead, Ben P; Eden, Caroline; Parekh, Samir; Dudley, Joel T
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
Gibbs, Richard A.; Wheeler, David A.; Nemunaitis, John; Fisher, William; Goss, John; Chen, Changyi
Personalized genomic medicine and surgery (PGMS) represents a new approach to health care that customizes patients’ medical treatment according to their own genetic information. This new approach is the result of increased knowledge of the human genome and ways this information can be applied by physicians in the medical and surgical management of their patients. A patient’s genotype can yield important information concerning disease susceptibility and the effectiveness of medications, therefore guiding specific, targeted imaging and treatment therapies. This review summarizes major achievements of human genomic studies and applications of genomics in health care. Five years ago we developed a model for the development of PGMS in which genomic profile guides choice of therapy. In this article we discussed our progress, including an updating of the model, and a future vision of PGMS. PMID:21424870
Personality , *Interviewing, *Admittance, *Universities, Students, Selection, Decision making, Ratings, Performance(Human), Training, Scoring, Military facilities, Military psychology , Military medicine, Symposia
Brothers, Kyle B; Rothstein, Mark A
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
Brothers, Kyle B; Rothstein, Mark A
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.
Salari, Keyan; Karczewski, Konrad J; Hudgins, Louanne; Ormond, Kelly E
An emerging debate in academic medical centers is not about the need for providing trainees with fundamental education on genomics, but rather the most effective educational models that should be deployed. At Stanford School of Medicine, a novel hands-on genomics course was developed in 2010 that provided students the option to undergo personal genome testing as part of the course curriculum. We hypothesized that use of personal genome testing in the classroom would enhance the learning experience of students. No data currently exist on how such methods impact student learning; thus, we surveyed students before and after the course to determine its impact. We analyzed responses using paired statistics from the 31 medical and graduate students who completed both pre-course and post-course surveys. Participants were stratified by those who did (N = 23) or did not (N = 8) undergo personal genome testing. In reflecting on the experience, 83% of students who underwent testing stated that they were pleased with their decision compared to 12.5% of students who decided against testing (P = 0.00058). Seventy percent of those who underwent personal genome testing self-reported a better understanding of human genetics on the basis of having undergone testing. Further, students who underwent personal genome testing demonstrated an average 31% increase in pre- to post-course scores on knowledge questions (P = 3.5×10(-6)); this was significantly higher (P = 0.003) than students who did not undergo testing, who showed a non-significant improvement. Undergoing personal genome testing and using personal genotype data in the classroom enhanced students' self-reported and assessed knowledge of genomics, and did not appear to cause significant anxiety. At least for self-selected students, the incorporation of personal genome testing can be an effective educational tool to teach important concepts of clinical genomic testing.
Zhang, Xiang; Kuivenhoven, Jan A; Groen, Albert K
When considering the variation in the genome, transcriptome, proteome and metabolome, and their interaction with the environment, every individual can be rightfully considered as a unique biological entity. Individualized medicine promises to take this uniqueness into account to optimize disease treatment and thereby improve health benefits for every patient. The success of individualized medicine relies on a precise understanding of the genotype-phenotype relationship. Although omics technologies advance rapidly, there are several challenges that need to be overcome: Next generation sequencing can efficiently decipher genomic sequences, epigenetic changes, and transcriptomic variation in patients, but it does not automatically indicate how or whether the identified variation will cause pathological changes. This is likely due to the inability to account for (1) the consequences of gene-gene and gene-environment interactions, and (2) (post)transcriptional as well as (post)translational processes that eventually determine the concentration of key metabolites. The technologies to accurately measure changes in these latter layers are still under development, and such measurements in humans are also mainly restricted to blood and circulating cells. Despite these challenges, it is already possible to track dynamic changes in the human interactome in healthy and diseased states by using the integration of multi-omics data. In this review, we evaluate the potential value of current major bioinformatics and systems biology-based approaches, including genome wide association studies, epigenetics, gene regulatory and protein-protein interaction networks, and genome-scale metabolic modeling. Moreover, we address the question whether integrative analysis of personal multi-omics data will help understanding of personal genotype-phenotype relationships.
Kato, Yasutaka; Nishihara, Hiroshi; Yuzawa, Sayaka; Mohri, Hiromi; Kanno, Hiromi; Hatanaka, Yutaka; Kimura, Taichi; Tanino, Mishie; Tanaka, Shinya
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.
Bauer, Chris; Stec, Karol; Glintschert, Alexander; Gruden, Kristina; Schichor, Christian; Or-Guil, Michal; Selbig, Joachim; Schuchhardt, Johannes
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
Harris, David T.
Regenerative medicine, tissue engineering and gene therapy offer the opportunity to treat and cure many of today’s intractable afflictions. These approaches to personalized medicine often utilize stem cells to accomplish these goals. However, stem cells can be negatively affected by donor variables such as age and health status at the time of collection, compromising their efficacy. Stem cell banking offers the opportunity to cryogenically preserve stem cells at their most potent state for later use in these applications. Practical stem cell sources include bone marrow, umbilical cord blood and tissue, and adipose tissue. Each of these sources contains stem cells that can be obtained from most individuals, without too much difficulty and in an economical fashion. This review will discuss the advantages and disadvantages of each stem cell source, factors to be considered when contemplating banking each stem cell source, the methodology required to bank each stem cell source, and finally, current and future clinical uses of each stem cell source. PMID:28548060
Meghen, K; Sweeney, C; Linehan, C; O'Flynn, S; Boylan, G
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.
Brown, Suzanne; Tracy, Elizabeth M; Jun, MinKyoung; Park, Hyunyong; Min, Meeyoung O
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.
Brown, Suzanne; Tracy, Elizabeth M.; Jun, MinKyoung; Park, Hyunyong; Min, Meeyoung O.
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
Meneu, Teresa; Martínez-Romero, Álvaro; Martínez-Millana, Antonio; Guillén, Sergio
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.
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.
... 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 ...
Hadaschik, B A; Hadaschik, E N; Hohenfellner, M
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."
Mou, Hongmei; Brazauskas, Karissa; Rajagopal, Jayaraj
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. © 2015 Wiley Periodicals, Inc.
Beitler, Jeremy R; Goligher, Ewan C; Schmidt, Matthieu; Spieth, Peter M; Zanella, Alberto; Martin-Loeches, Ignacio; Calfee, Carolyn S; Cavalcanti, Alexandre B
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.
Zhang, Ping; Wang, Fei; Hu, Jianying; Sorrentino, Robert
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. PMID:25717413
Zhang, Ping; Wang, Fei; Hu, Jianying; Sorrentino, Robert
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.
Vorderstrasse, Allison; Katsanis, Sara Huston; Minear, Mollie A.; Yang, Nancy; Rakhra-Burris, Tejinder; Reeves, Jason W.; Cook-Deegan, Robert; Ginsburg, Geoffrey S.; Ann Simmons, Leigh
Objective Prior reports demonstrate that personalized medicine implementation in clinical care is lacking. Given the program focus at Duke University on personalized medicine, we assessed health care providers’ perspectives on their preparation and educational needs to effectively integrate personalized medicine tools and applications into their clinical practices. Methods Data from 78 health care providers who participated in a larger study of personalized and precision medicine at Duke University were analyzed using Qualtrics (descriptive statistics). Individuals age 18 years and older were recruited for the larger study through broad email contacts across the university and health system. All participants completed an online 35-question survey that was developed, pilot-tested, and administered by a team of interdisciplinary researchers and clinicians at the Center for Applied Genomics and Precision Medicine. Results Overall, providers reported being ill-equipped to implement personalized medicine in clinical practice. Many respondents identified educational resources as critical for strengthening personalized medicine implementation in both research and clinical practice. Responses did not differ significantly between specialists and primary providers or by years since completion of the medical degree. Conclusions Survey findings support prior calls for provider and patient education in personalized medicine. Respondents identified focus areas in training, education, and research for improving personalized medicine uptake. Given respondents’ emphasis on educational needs, now may be an ideal time to address these needs in clinical training and public education programs. PMID:26236542
Vorderstrasse, Allison; Katsanis, Sara Huston; Minear, Mollie A; Yang, Nancy; Rakhra-Burris, Tejinder; Reeves, Jason W; Cook-Deegan, Robert; Ginsburg, Geoffrey S; Ann Simmons, Leigh
Prior reports demonstrate that personalized medicine implementation in clinical care is lacking. Given the program focus at Duke University on personalized medicine, we assessed health care providers' perspectives on their preparation and educational needs to effectively integrate personalized medicine tools and applications into their clinical practices. Data from 78 health care providers who participated in a larger study of personalized and precision medicine at Duke University were analyzed using Qualtrics (descriptive statistics). Individuals age 18 years and older were recruited for the larger study through broad email contacts across the university and health system. All participants completed an online 35-question survey that was developed, pilot-tested, and administered by a team of interdisciplinary researchers and clinicians at the Center for Applied Genomics and Precision Medicine. Overall, providers reported being ill-equipped to implement personalized medicine in clinical practice. Many respondents identified educational resources as critical for strengthening personalized medicine implementation in both research and clinical practice. Responses did not differ significantly between specialists and primary providers or by years since completion of the medical degree. Survey findings support prior calls for provider and patient education in personalized medicine. Respondents identified focus areas in training, education, and research for improving personalized medicine uptake. Given respondents' emphasis on educational needs, now may be an ideal time to address these needs in clinical training and public education programs.
Tsimberidou, Apostolia M; Ringborg, Ulrik; Schilsky, Richard L
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
Bhavnani, Suresh K; Chen, Tianlong; Ayyaswamy, Archana; Visweswaran, Shyam; Bellala, Gowtham; Rohit, Divekar; Kevin E, Bassler
A primary goal of precision medicine is to identify patient subgroups based on their characteristics (e.g., comorbidities or genes) with the goal of designing more targeted interventions. While network visualization methods such as Fruchterman-Reingold have been used to successfully identify such patient subgroups in small to medium sized data sets, they often fail to reveal comprehensible visual patterns in large and dense networks despite having significant clustering. We therefore developed an algorithm called ExplodeLayout, which exploits the existence of significant clusters in bipartite networks to automatically "explode" a traditional network layout with the goal of separating overlapping clusters, while at the same time preserving key network topological properties that are critical for the comprehension of patient subgroups. We demonstrate the utility of ExplodeLayout by visualizing a large dataset extracted from Medicare consisting of readmitted hip-fracture patients and their comorbidities, demonstrate its statistically significant improvement over a traditional layout algorithm, and discuss how the resulting network visualization enabled clinicians to infer mechanisms precipitating hospital readmission in specific patient subgroups.
Kleinberger, Jeffrey W; Pollin, Toni I
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.
Kleinberger, Jeffrey W.; Pollin, Toni I.
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
Su, Chuan-Jun; Chiang, Chang-Yu; Chih, Meng-Chun
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.
Su, Chuan-Jun; Chiang, Chang-Yu; Chih, Meng-Chun
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
Morrison, Ann; Roman, Brenda; Borges, Nicole
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…
Morrison, Ann; Roman, Brenda; Borges, Nicole
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…
Zhou, Xuezhong; Li, Yubing; Peng, Yonghong; Hu, Jingqing; Zhang, Runshun; He, Liyun; Wang, Yinghui; Jiang, Lijie; Yan, Shiyan; Li, Peng; Xie, Qi; Liu, Baoyan
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.
Panahiazar, Maryam; Taslimitehrani, Vahid; Jadhav, Ashutosh; Pathak, Jyotishman
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. PMID:25705726
Panahiazar, Maryam; Taslimitehrani, Vahid; Jadhav, Ashutosh; Pathak, Jyotishman
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.
Toledo, Rodrigo A; Sekiya, Tomoko; Longuini, Viviane C; Coutinho, Flavia L; Lourenço, Delmar M; Toledo, Sergio P A
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.
Toledo, Rodrigo A.; Sekiya, Tomoko; Longuini, Viviane C.; L. Coutinho, Flavia; Lourenço, Delmar M.; Toledo, Sergio P. A.
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
Alyass, Akram; Turcotte, Michelle; Meyre, David
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.
Subbiah, M T Ravi
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.
Buford, Thomas W; Pahor, Marco
This commentary offers a discussion of the need to consider behavioral interventions such as physical exercise as integral components of personalized medicine. We discuss the concept of personalized medicine and review existing evidence of variability in response to exercise training. We argue that increased understanding is needed regarding sources of variability in exercise responsiveness, and that such understanding should lead to more tailored, often multimodal interventions. Studies of personalized medicine to date have primarily investigated heterogeneity in drug responsiveness; we believe it is time to begin considering preventive strategies such as exercise within a broader scope of personalized care. Copyright © 2012 Elsevier Inc. All rights reserved.
Lambin, Philippe; Leijenaar, Ralph T H; Deist, Timo M; Peerlings, Jurgen; de Jong, Evelyn E C; van Timmeren, Janita; Sanduleanu, Sebastian; Larue, Ruben T H M; Even, Aniek J G; Jochems, Arthur; van Wijk, Yvonka; Woodruff, Henry; van Soest, Johan; Lustberg, Tim; Roelofs, Erik; van Elmpt, Wouter; Dekker, Andre; Mottaghy, Felix M; Wildberger, Joachim E; Walsh, Sean
Radiomics, the high-throughput mining of quantitative image features from standard-of-care medical imaging that enables data to be extracted and applied within clinical-decision support systems to improve diagnostic, prognostic, and predictive accuracy, is gaining importance in cancer research. Radiomic analysis exploits sophisticated image analysis tools and the rapid development and validation of medical imaging data that uses image-based signatures for precision diagnosis and treatment, providing a powerful tool in modern medicine. Herein, we describe the process of radiomics, its pitfalls, challenges, opportunities, and its capacity to improve clinical decision making, emphasizing the utility for patients with cancer. Currently, the field of radiomics lacks standardized evaluation of both the scientific integrity and the clinical relevance of the numerous published radiomics investigations resulting from the rapid growth of this area. Rigorous evaluation criteria and reporting guidelines need to be established in order for radiomics to mature as a discipline. Herein, we provide guidance for investigations to meet this urgent need in the field of radiomics.
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.
Ackerman, Michael J; Marcou, Cherisse A; Tester, David J
Major advances in the field of molecular genetics have expanded our ability to identify genetic substrates underlying the pathogenesis of various disorders that follow Mendelian inheritance patterns. Included among these disorders are the potentially lethal and heritable channelopathies and cardiomyopathies for which the underlying genetic basis has been identified and is now better understood. Clinical and genetic heterogeneity are hallmark features of these disorders, with thousands of gene mutations being implicated within these divergent cardiovascular diseases. Genetic testing for several of these heritable channelopathies and cardiomyopathies has matured from discovery to research-based genetic testing to clinically/commercially available diagnostic tests. The purpose of this review is to provide the reader with a basic understanding of human medical genetics and genetic testing in the context of cardiovascular diseases of the heart. We review the state of clinical genetic testing for the more common channelopathies and cardiomyopathies, discuss some of the pertinent issues that arise from genetic testing, and discuss the future of personalized medicine in cardiovascular disease. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.
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.
Cimino, George D; Pan, Chong-xian; Henderson, Paul T
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
Arain, Faisal A; Kuniyoshi, Fatima H; Abdalrhim, Ahmed D; Miller, Virginia M
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.
Binkowska-Bury, Monika; Januszewicz, Pawel; Wolan, Maja; Sobolewski, Marek; Krauze, Martin; Fijalek, Zbigniew E
To gain information concerning disparities in the understanding of the counterfeit medicines phenomenon between healthcare workers and lay persons. Central-eastern Europe is facing significant challenges in combating a multi-billion euro, and often lethal, trade in counterfeit medicines. It is a major challenge especially for primary healthcare workers to expand the understanding of counterfeit medicines to the benefit of patients. Use of questionnaires. Two separate questionnaires were distributed, one for healthcare professionals and the other for lay persons. Conducted between September 2009-May 2010. One thousand and seventy-eight primary healthcare professionals and 377 lay persons were surveyed. Findings revealed less awareness among healthcare professionals than lay persons about the danger of purchasing illegal medicines or dietary supplements outside pharmacies. Healthcare professionals have lower levels of awareness about the scale of counterfeit medicines as well as threats of counterfeit medicines to health than lay persons. The majority of medical workers do not know the procedure for reporting suspicious medicine and do not warn their patients against purchasing medicine from unknown sources. Primary healthcare workers have less awareness of the scale of the counterfeit medicines phenomenon than lay persons. Nurses and physician need to become aware of the counterfeit medicines phenomenon. Nurses are well positioned to assume the active role in educating patients about the threat of the presence of counterfeit medicines so as to enhance safety for their patients. However, to accomplish that aim, these findings suggest that healthcare professionals need to become better educated about counterfeit medicines and need to be trained in skills to identify counterfeit medicines. © 2012 Blackwell Publishing Ltd.
Broderick, P A; Wenning, L; Li, Y-S
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
Normanno, Nicola; Rachiglio, Anna Maria; Roma, Cristin; Fenizia, Francesca; Esposito, Claudia; Pasquale, Raffaella; La Porta, Maria Libera; Iannaccone, Alessia; Micheli, Filippo; Santangelo, Michele; Bergantino, Francesca; Costantini, Susan; De Luca, Antonella
Increasing evidence demonstrates that target-based agents are active only in molecularly selected populations of patients. Therefore, the identification of predictive biomarkers has become mandatory to improve the clinical development of these novel drugs. Mutations of the epidermal growth factor receptor (EGFR) or rearrangements of the ALK gene in non-small-cell lung cancer, and BRAF mutations in melanoma are clear examples of driver mutations and predictive biomarkers of response to treatment with specific inhibitors. Predictive biomarkers might also identify subgroups of patients that are not likely to respond to specific drugs, as shown for KRAS mutations and anti-EGFR monoclonal antibodies in colorectal carcinoma. The discovery of novel driver molecular alterations and the availability of drugs capable to selectively block such oncogenic mechanisms are leading to a rapid increase in the number of putative biomarkers that need to be assessed in each single patient. In this respect, two different approaches are being developed to introduce a comprehensive molecular characterization in clinical practice: high throughput genotyping platforms, which allow the detection of recognized genetic aberrations in clinical samples, and next generation sequencing that can provide information on all the different types of cancer-causing alterations. The introduction of these techniques in clinical practice will increase the possibility to identify molecular targets in each individual patient, and will also allow to follow the molecular evolution of the disease during the treatment. By using these approaches, the development of personalized medicine for patients with cancer will finally become possible. Copyright © 2012 Wiley Periodicals, Inc.
Lei, Yang; Mayo, Matthew S; Carlson, Susan E; Gajewski, Byron J
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.
Irwin, David J; Cairns, Nigel J.; Grossman, Murray; McMillan, Corey T.; Lee, Edward B.; Van Deerlin, Vivianna M.; Lee, Virginia M.-Y.; Trojanowski, John Q.
Frontotemporal lobar degeneration (FTLD) comprises two main classes of neurodegenerative diseases characterized by neuronal/glial proteinaceous inclusions (ie. proteinopathies) including tauopathies (i.e. FTLD-Tau) and TDP-43 proteinopathies (i.e. FTLD-TDP) while other very rare forms of FTLD are known such as FTLD with FUS pathology (FTLD-FUS). This review focuses mainly on FTLD-Tau and FLTD-TDP, which may present as several clinical syndromes: a behavioral/dysexecutive syndrome (behavioral-variant frontotemporal dementia); language disorders (primary progressive aphasia variants); and motor disorders (amyotrophic lateral sclerosis, corticobasal syndrome, progressive supranuclear palsy syndrome). There is considerable heterogeneity in clinical presentations of underlying neuropathology and current clinical criteria do not reliably predict underlying proteinopathies ante-mortem. In contrast, molecular etiologies of hereditary FTLD are consistently associated with specific proteinopathies. These include MAPT mutations with FTLD-Tau and GRN, C9orf72, VCP and TARDBP with FTLD-TDP. The last decade has seen a rapid expansion in our knowledge of the molecular pathologies associated with this clinically and neuropathologically heterogeneous group of FTLD diseases. Moreover, in view of current limitations to reliably diagnose specific FTLD neuropathologies prior to autopsy, we summarize the current state of the science in FTLD biomarker research including neuroimaging, biofluid and genetic analyses. We propose that combining several of these biomarker modalities will improve diagnostic specificity in FTLD through a personalized medicine approach. The goals of these efforts are to enhance power for clinical trials focused on slowing or preventing progression of spread of tau, TDP-43 and other FTLD-associated pathologies and work towards the goal of defining clinical endophenotypes of FTD. PMID:25549971
Ho, Dean; Wang, Chung-Huei Katherine; Chow, Edward Kai-Hua
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.
Greeley, Siri Atma W.; John, Priya M.; Winn, Aaron N.; Ornelas, Joseph; Lipton, Rebecca B.; Philipson, Louis H.; Bell, Graeme I.; Huang, Elbert S.
OBJECTIVE Neonatal diabetes mellitus is a rare form of diabetes diagnosed in infancy. Nearly half of patients with permanent neonatal diabetes have mutations in the genes for the ATP-sensitive potassium channel (KCNJ11 and ABCC8) that allow switching from insulin to sulfonylurea therapy. Although treatment conversion has dramatic benefits, the cost-effectiveness of routine genetic testing is unknown. RESEARCH DESIGN AND METHODS We conducted a societal cost-utility analysis comparing a policy of routine genetic testing to no testing among children with permanent neonatal diabetes. We used a simulation model of type 1 diabetic complications, with the outcome of interest being the incremental cost-effectiveness ratio (ICER, $/quality-adjusted life-year [QALY] gained) over 30 years of follow-up. RESULTS In the base case, the testing policy dominated the no-testing policy. The testing policy was projected to bring about quality-of-life benefits that enlarged over time (0.32 QALYs at 10 years, 0.70 at 30 years) and produced savings in total costs that were present as early as 10 years ($12,528 at 10 years, $30,437 at 30 years). Sensitivity analyses indicated that the testing policy would remain cost-saving as long as the prevalence of the genetic defects remained >3% and would retain an ICER <$200,000/QALY at prevalences between 0.7 and 3%. CONCLUSIONS Genetic testing in neonatal diabetes improves quality of life and lowers costs. This paradigmatic case study highlights the potential economic impact of applying the concepts of personalized genetic medicine to other disorders in the future. PMID:21273495
Fins, Joseph J; Shapiro, Zachary E
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.
Kornman, K S; Duff, G W
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.
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.
Personalized medicine that promises targeted treatments with high therapeutic effectiveness requires an unmatched degree of participation of the patient. To enable this high degree of patient empowerment, the project p-medicine developed a Patient Empowerment Tool that is part of a clinical research infrastructure consisting of data management, data warehouse, biobank access, imaging, simulation and decision support tools. Patient autonomy is enhanced by giving patients access to their data and by providing means for informed choices and consent. Because the highly integrative nature of the Patient Empowerment Tool raised ethical concerns, an ethical requirements analysis was carried out, resulting in the assignment of five ethical clusters. The one concerned with the Patient Empowerment Tool was used to identify several concerns, like the access to unfavorable information or negative diagnosis, incomprehensible risk/benefit display, and other factors that may overstress certain patients. From the ethical point of view, the user interface should contain different profiles and control mechanisms to protect the patient and to provide an adaptable and intelligent display of information, sufficient guidance and help for users from vulnerable populations as well as for patients with life threatening diseases.
Recent advances in biosensors, medical instrumentation, and information processing and communication technologies (ICT) have enabled significant improvements in healthcare. However, these technologies have been mainly applied in clinical environments, such as hospitals and healthcare facilities, under managed care by well-trained and specialized individuals. The global challenge of providing quality healthcare at affordable cost leads to the proposed paradigm of P reventive, Personalized, and Precision Medicine that requires a seamless use of technology and infrastructure support for patients and healthcare providers at point-of-care (POC) locations including homes, semi or pre-clinical facilities, and hospitals. The complexity of the global healthcare challenge necessitates strong collaborative interdisciplinary synergies involving all stakeholder groups including academia, federal research institutions, industry, regulatory agencies, and clinical communities. It is critical to evolve with collaborative efforts on the translation of research to technology development toward clinical validation and potential healthcare applications. This special issue is focused on technology innovation and translational research for POC applications with potential impact in improving global healthcare in the respective areas. Some of these papers were presented at the NIH-IEEE Strategic Conference on Healthcare Innovations and POC Technologies for Precision Medicine (HI-POCT) held at the NIH on November 9–10, 2015. The papers included in the Special Issue provide a spectrum of critical issues and collaborative resources on translational research of advanced POC devices and ICT into global healthcare environment. PMID:28560119
Byrd, James Brian
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
Sun, Alexander; Venkatesh, A G; Hall, Drew A
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.
Sun, Alexander; Venkatesh, A G; Hall, Drew A
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.
Mertan, Francesca; Turkbey, Baris
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.
Volm, Manfred; Efferth, Thomas
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
... 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 ...
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...
Tabassum, Rubina; Sivadas, Ambily; Agrawal, Vartika; Tian, Haozheng; Arafat, Dalia; Gibson, Greg
Personalized medicine is predicated on the notion that individual biochemical and genomic profiles are relatively constant in times of good health and to some extent predictive of disease or therapeutic response. We report a pilot study quantifying gene expression and methylation profile consistency over time, addressing the reasons for individual uniqueness, and its relation to N = 1 phenotypes. Whole blood samples from four African American women, four Caucasian women, and four Caucasian men drawn from the Atlanta Center for Health Discovery and Well Being study at three successive 6-month intervals were profiled by RNA-Seq, miRNA-Seq, and Illumina Methylation 450 K arrays. Standard regression approaches were used to evaluate the proportion of variance for each type of omic measure among individuals, and to quantify correlations among measures and with clinical attributes related to wellness. Longitudinal omic profiles were in general highly consistent over time, with an average of 67 % variance in transcript abundance, 42 % in CpG methylation level (but 88 % for the most differentiated CpG per gene), and 50 % in miRNA abundance among individuals, which are all comparable to 74 % variance among individuals for 74 clinical traits. One third of the variance could be attributed to differential blood cell type abundance, which was also fairly stable over time, and a lesser amount to expression quantitative trait loci (eQTL) effects. Seven conserved axes of covariance that capture diverse aspects of immune function explained over half of the variance. These axes also explained a considerable proportion of individually extreme transcript abundance, namely approximately 100 genes that were significantly up-regulated or down-regulated in each person and were in some cases enriched for relevant gene activities that plausibly associate with clinical attributes. A similar fraction of genes had individually divergent methylation levels, but these did not overlap with the
Redekop, W Ken; Mladsi, Deirdre
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
Rao, Gundugurti Prasad; Ramya, Vemulokonda Sri; Bada, Math Suresh
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.
Estape, Estela S; Mays, Mary Helen; Sternke, Elizabeth A
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
Emilsson, Maria; Berndtsson, Ina; Lötvall, Jan; Millqvist, Eva; Lundgren, Jesper; Johansson, Ake; Brink, Eva
To explore the influence of personality traits and beliefs about medicines on adherence to treatment with asthma medication. Respondents were 35 asthmatic adults prescribed controller medication. They answered questionnaires about medication adherence, personality traits, and beliefs about medicines. In gender comparisons, the personality traits "Neuroticism" in men and "adherence to medication" were associated with lower adherent behaviour. Associations between personality traits and beliefs in the necessity of medication for controlling the illness were identified. Beliefs about the necessity of medication were positively associated with adherent behaviour in women. In the total sample, a positive "necessity-concern" differential predicted adherent behaviour. The results imply that personality and beliefs about medicines may influence how well adults with asthma adhere to treatment with asthma medication.
Hupe, O; Ankerhold, U
During medical X-ray examinations of patients, humans as well as animals, voluntarily assisting persons are frequently needed in order to calm down the patient or animal. Typical exposure situations have been identified and measurements were performed in the fields of scattered X-rays. The personal dose equivalent H(p)(10) for persons assisting knowingly and willingly in X-ray examinations in dentistry, and human and veterinary medicine was measured. The typical dose values, measured above the protective lead apron, are in the order of a few microsieverts.
Shtrichman, R; Germanguz, I; Itskovitz-Eldor, J
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.
Steffen, Julius Alexander; Steffen, Jan Simon
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.
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
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
The joint Wellcome Trust/Cold Spring Harbor Conference on pharmacogenomics and personalized medicine, held in the UK and USA in alternate years, focuses on the opportunities presented by the growing contribution of genomic information and technologies to interdisciplinary approaches in the study of variable human responses to therapeutic agents. This year's meeting provided in depth discussions on diverse fields that are driving forward the new era of personalized medicine including the use of next-generation sequencing technologies to identify common and rare variants determining response to drugs; the interface of pharmacogenomics and complex disease, including cancer; understanding and managing serious adverse drug reactions and public health pharmacogenetics. This year's meeting followed the UK Pharmacogenetics and Stratified Medicine Network 2011 meeting (Cambridge, UK), and marked the Conference's tenth anniversary. In the first of this two-part conference report, sessions on personalized medicines, public health pharmacogenetics and next-generation sequencing will be discussed.
Tucker, Joseph W; Chenard, Lois; Young, Joseph M
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.
Yang, N; Ginsburg, G S; Simmons, L A
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. © 2012 The Authors. obesity reviews © 2012 International Association for the Study of Obesity.
Gopikumar, Vandana; Easwaran, Kamala; Ravi, Mrinalini; Jude, Nirmal; Bunders, Joske
The convergence between mental ill health and homelessness is well documented, but critical events that precipitate the downward spiral into homelessness, and promote personal recovery remain only partially explored in India. To explore causative factors of the descent into homelessness, and gain insight into creative and innovative approaches that promote personal recovery, specifically in institutional care settings. This qualitative study used focus group discussions, detailed personal interviews and anonymised data drawn from patient files. The data were analysed using phenomenological approaches. Findings suggest that besides poverty and deprivation, death of the primary caregiver is a critical event in precipitating distress and a breakdown in the family, leading to a loss of support systems and a sense of belongingness, and rendering persons with mental illness homeless. Social affiliations, kinship, congruence between the real and ideal self, and the drive to assume a more powerful identity and/or pursue self-actualisation emerged as key factors aiding personal recovery. In the absence of a family, mimicking its attributes appears to ground institutions and professionals in an ethos of responsiveness and user-centricity, thereby promoting personal recovery. This study highlights the critical need to further explore and understand the nature of distress and descent into homelessness, and gain insight into caregiver strain and strategies that can be developed to reduce the same. It further emphasizes the need to shed light on individual strategies that help pursue wellbeing, and delve deeper into the application of value frameworks in institutions and their role in promoting personal recovery among persons with mental health issues.
Mason, Christopher E.; Seringhaus, Michael R.; Sattler de Sousa e Brito, Clara
“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
Smith, David E
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.
Hyman, David M.; Solit, David B.; Arcila, Maria E.; Cheng, Donavan; Sabbatini, Paul; Baselga, Jose; Berger, Michael F.; Ladanyi, Marc
Implementing a center-wide precision medicine strategy at a major cancer center is a true multidisciplinary effort and requires comprehensive alignment of a broad screening strategy with a clinical research enterprise that can use these data to accelerate development of new treatments. Here, we describe the genomic screening approach at Memorial Sloan Kettering Cancer Center, a hybridization capture-based next-generation sequencing clinical assay for solid tumor molecular oncology designated MSK-IMPACT, and how it enables and supports a large clinical trial portfolio enriched for multi-histology, biomarker-selected, ‘basket’ studies of targeted therapies. PMID:26320725
Caprioli, Richard M
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.
Caprioli, Richard M.
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
Caprioli, Richard M.
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.
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
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
Zhu, Zhou; Ihle, Nathan T; Rejto, Paul A; Zarrinkar, Patrick P
Genome-scale functional genomic screens across large cell line panels provide a rich resource for discovering tumor vulnerabilities that can lead to the next generation of targeted therapies. Their data analysis typically has focused on identifying genes whose knockdown enhances response in various pre-defined genetic contexts, which are limited by biological complexities as well as the incompleteness of our knowledge. We thus introduce a complementary data mining strategy to identify genes with exceptional sensitivity in subsets, or outlier groups, of cell lines, allowing an unbiased analysis without any a priori assumption about the underlying biology of dependency. Genes with outlier features are strongly and specifically enriched with those known to be associated with cancer and relevant biological processes, despite no a priori knowledge being used to drive the analysis. Identification of exceptional responders (outliers) may not lead only to new candidates for therapeutic intervention, but also tumor indications and response biomarkers for companion precision medicine strategies. Several tumor suppressors have an outlier sensitivity pattern, supporting and generalizing the notion that tumor suppressors can play context-dependent oncogenic roles. The novel application of outlier analysis described here demonstrates a systematic and data-driven analytical strategy to decipher large-scale functional genomic data for oncology target and precision medicine discoveries.
Banjar, Haneen; Adelson, David; Brown, Fred; Chaudhri, Naeem
The use of intelligent techniques in medicine has brought a ray of hope in terms of treating leukaemia patients. Personalized treatment uses patient's genetic profile to select a mode of treatment. This process makes use of molecular technology and machine learning, to determine the most suitable approach to treating a leukaemia patient. Until now, no reviews have been published from a computational perspective concerning the development of personalized medicine intelligent techniques for leukaemia patients using molecular data analysis. This review studies the published empirical research on personalized medicine in leukaemia and synthesizes findings across studies related to intelligence techniques in leukaemia, with specific attention to particular categories of these studies to help identify opportunities for further research into personalized medicine support systems in chronic myeloid leukaemia. A systematic search was carried out to identify studies using intelligence techniques in leukaemia and to categorize these studies based on leukaemia type and also the task, data source, and purpose of the studies. Most studies used molecular data analysis for personalized medicine, but future advancement for leukaemia patients requires molecular models that use advanced machine-learning methods to automate decision-making in treatment management to deliver supportive medical information to the patient in clinical practice.
Shoaib, Maria; Rameez, Mansoor Ali Merchant; Hussain, Syed Ather; Madadin, Mohammed; Menezes, Ritesh G
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.
Deegan, Patricia E
Resilience does not refer to a magical state of invulnerability and the capacity for resilience does not end when one is diagnosed with a prolonged disorder or disease. Despite the enduring legacy of pessimism regarding resilience in the population of people diagnosed with psychiatric disorders, a majority do recover. The present study seeks to understand how people with psychiatric disorders demonstrate the capacity for resilience in the ways they use or do not use psychiatric medications in their daily lives. A qualitative method and participatory action design was used to analyze interviews with 29 people diagnosed with psychiatric disorders. When discussing their use of psychiatric medications, research participants also talked about non-pharmaceutical, personal medicine. Personal medicine was found to be those activities that gave life meaning and purpose, and that served to raise self-esteem, decrease symptoms, and avoid unwanted outcomes such as hospitalization. When psychiatric medications interfered with non-pharmaceutical personal medicine, non-adherence often occurred. People with psychiatric disorders demonstrate resilience through the use of non-pharmaceutical, personal medicine in the recovery process. This understanding suggests that medication adherence may be improved when clinicians inquire about patients' personal medicine and use pharmaceuticals to support, rather than interfere with, these self-assessed health resources.
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.
Russell, Christy A
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.
Sun, Yajuan; Soh, Siowling
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.
Obermeier, Patrick; Muehlhans, Susann; Hoppe, Christian; Karsch, Katharina; Tief, Franziska; Seeber, Lea; Chen, Xi; Conrad, Tim; Boettcher, Sindy; Diedrich, Sabine; Rath, Barbara
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
Cortese-Krott, Miriam M; Koning, Anne; Kuhnle, Gunter G C; Nagy, Peter; Bianco, Christopher L; Pasch, Andreas; Wink, David A; Fukuto, Jon M; Jackson, Alan A; van Goor, Harry; Olson, Kenneth R; Feelisch, Martin
Oxidative stress is thought to account for aberrant redox homeostasis and contribute to aging and disease. However, more often than not, administration of antioxidants is ineffective, suggesting that our current understanding of the underlying regulatory processes is incomplete. Recent Advances: Similar to reactive oxygen species and reactive nitrogen species, reactive sulfur species are now emerging as important signaling molecules, targeting regulatory cysteine redox switches in proteins, affecting gene regulation, ion transport, intermediary metabolism, and mitochondrial function. To rationalize the complexity of chemical interactions of reactive species with themselves and their targets and help define their role in systemic metabolic control, we here introduce a novel integrative concept defined as the reactive species interactome (RSI). The RSI is a primeval multilevel redox regulatory system whose architecture, together with the physicochemical characteristics of its constituents, allows efficient sensing and rapid adaptation to environmental changes and various other stressors to enhance fitness and resilience at the local and whole-organism level. To better characterize the RSI-related processes that determine fluxes through specific pathways and enable integration, it is necessary to disentangle the chemical biology and activity of reactive species (including precursors and reaction products), their targets, communication systems, and effects on cellular, organ, and whole-organism bioenergetics using system-level/network analyses. Understanding the mechanisms through which the RSI operates will enable a better appreciation of the possibilities to modulate the entire biological system; moreover, unveiling molecular signatures that characterize specific environmental challenges or other forms of stress will provide new prevention/intervention opportunities for personalized medicine. Antioxid. Redox Signal. 00, 000-000.
Koning, Anne; Kuhnle, Gunter G.C.; Nagy, Peter; Bianco, Christopher L.; Pasch, Andreas; Wink, David A.; Fukuto, Jon M.; Jackson, Alan A.; van Goor, Harry; Olson, Kenneth R.
Abstract Significance: Oxidative stress is thought to account for aberrant redox homeostasis and contribute to aging and disease. However, more often than not, administration of antioxidants is ineffective, suggesting that our current understanding of the underlying regulatory processes is incomplete. Recent Advances: Similar to reactive oxygen species and reactive nitrogen species, reactive sulfur species are now emerging as important signaling molecules, targeting regulatory cysteine redox switches in proteins, affecting gene regulation, ion transport, intermediary metabolism, and mitochondrial function. To rationalize the complexity of chemical interactions of reactive species with themselves and their targets and help define their role in systemic metabolic control, we here introduce a novel integrative concept defined as the reactive species interactome (RSI). The RSI is a primeval multilevel redox regulatory system whose architecture, together with the physicochemical characteristics of its constituents, allows efficient sensing and rapid adaptation to environmental changes and various other stressors to enhance fitness and resilience at the local and whole-organism level. Critical Issues: To better characterize the RSI-related processes that determine fluxes through specific pathways and enable integration, it is necessary to disentangle the chemical biology and activity of reactive species (including precursors and reaction products), their targets, communication systems, and effects on cellular, organ, and whole-organism bioenergetics using system-level/network analyses. Future Directions: Understanding the mechanisms through which the RSI operates will enable a better appreciation of the possibilities to modulate the entire biological system; moreover, unveiling molecular signatures that characterize specific environmental challenges or other forms of stress will provide new prevention/intervention opportunities for personalized medicine. Antioxid. Redox
Johnson, Julie A; Elsey, Amanda R; Clare-Salzler, Michael J; Nessl, David; Conlon, Michael; Nelson, David R
The University of Florida and Shands Hospital recently launched a genomic medicine program focused on the clinical implementation of pharmacogenetics called the Personalized Medicine Program. We focus on a preemptive, chip-based genotyping approach that is cost effective, while providing experience that will be useful as genomic medicine moves towards genome sequence data for patients becoming available. The Personalized Medicine Program includes a regulatory body that is responsible for ensuring that evidence-based examples are moved to clinical implementation, and relies on clinical decision support tools to provide healthcare providers with guidance on use of the genetic information. The pilot implementation was with CYP2C19-clopidogrel and future plans include expansion to additional pharmacogenetic examples, along with aiding in implementation in other health systems across Florida. PMID:23651020
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.
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
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.
Gojo, Ivana; Karp, Judith E.
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
Morrison, Ann; Roman, Brenda; Borges, Nicole
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 curriculum" in medical education, in which values are communicated from teacher to student outside of the formal instruction. A group of 79 students on Psychiatry and 66 on Emergency Medicine clerkships were surveyed at the beginning and end of their rotation regarding their attitudes toward homeless persons by use of the Health Professionals' Attitudes Toward the Homeless Inventory (HPATHI). The HPATHI was also administered to 31 Psychiatry residents and faculty and 41 Emergency Medicine residents and faculty one time during the course of this study. For Psychiatry clerks, t-tests showed significant differences pre- and post-clerkship experiences on 2 of the 23 items on the HPATHI. No statistically significant differences were noted for the Emergency Medicine students. An analysis of variance revealed statistically significant differences on 7 out of the 23 survey questions for residents and faculty in Psychiatry, as compared with those in Emergency Medicine. Results suggest that medical students showed small differences in their attitudes toward homeless people following clerkships in Psychiatry but not in Emergency Medicine. Regarding resident and faculty results, significant differences between specialties were noted, with Psychiatry residents and faculty exhibiting more favorable attitudes toward homeless persons than residents and faculty in Emergency Medicine. Given that medical student competencies should be addressing the broader social issues of homelessness, medical schools need to first understand the attitudes of medical students to such issues, and then develop curricula to overcome inaccurate or stigmatizing beliefs.
Zhao, Yingqi; Zeng, Donglin
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.
Xu, Wei; Beeharry, Maneesh K.; Yan, Min; Zhu, Zhenggang
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
Vogt, Henrik; Ulvestad, Elling; Eriksen, Thor Eirik; Getz, Linn
The practicing doctor, and most obviously the primary care clinician who encounters the full complexity of patients, faces several fundamental but intrinsically related theoretical and practical challenges - strongly actualized by so-called medically unexplained symptoms (MUS) and multi-morbidity. Systems medicine, which is the emerging application of systems biology to medicine and a merger of molecular biomedicine, systems theory and mathematical modelling, has recently been proposed as a primary care-centered strategy for medicine that promises to meet these challenges. Significantly, it has been proposed to do so in a way that at first glance may seem compatible with humanistic medicine. More specifically, it is promoted as an integrative, holistic, personalized and patient-centered approach. In this article, we ask whether and to what extent systems medicine can provide a comprehensive conceptual account of and approach to the patient and the root causes of health problems that can be reconciled with the concept of the patient as a person, which is an essential theoretical element in humanistic medicine. We answer this question through a comparative analysis of the theories of primary care doctor Eric Cassell and systems biologist Denis Noble. We argue that, although systems biological concepts, notably Noble's theory of biological relativity and downward causation, are highly relevant for understanding human beings and health problems, they are nevertheless insufficient in fully bridging the gap to humanistic medicine. Systems biologists are currently unable to conceptualize living wholes, and seem unable to account for meaning, value and symbolic interaction, which are central concepts in humanistic medicine, as constraints on human health. Accordingly, systems medicine as currently envisioned cannot be said to be integrative, holistic, personalized or patient-centered in a humanistic medical sense. © 2014 The Authors. Journal of Evaluation in Clinical
Simoes, E; Sokolov, A N; Graf, J; Pavlova, M A; Brucker, S Y; Wallwiener, D; Schmahl, F W; Bamberg, M
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.
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.
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
Squassina, Alessio; Severino, Giovanni; Grech, Godfrey; Fenech, Anthony; Borg, Joseph; Patrinos, George P
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.
Crundwell, G; Baguley, D M
Literature indicates that complementary and alternative medicine is used by patients with auditory and vestibular symptoms. This study sought to determine the prevalence of complementary and alternative medicine uptake, and examine attitudes towards complementary and alternative medicine in clinicians working with audiovestibular disorder patients. The Holistic Complementary and Alternative Medicine Questionnaire and a devised questionnaire about recent and lifetime use of complementary and alternative medicine were used. Fifty-four individuals, including audiologists, ENT surgeons, nurses and rehabilitationists, completed the questionnaires (67 per cent response rate). Lifetime prevalence of complementary and alternative medicine uptake was 44 per cent, and 12-month prevalence was 22 per cent. Uptake was more common in females, but there was no significant difference in use when comparing age, seniority or profession. Attitudes towards complementary and alternative medicine were mildly adverse, but sizeable standard deviation indicates wide-ranging attitudes. Clinicians working with patients with audiovestibular disorders have a range of attitudes towards complementary and alternative medicine. Personal uptake of complementary and alternative medicine was lower than that of the general UK population, but remains sizeable.
Fine, Andrew M.; Nizet, Victor; Mandl, Kenneth D.
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
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.
Kirchhof, Paulus; Sipido, Karin R; Cowie, Martin R; Eschenhagen, Thomas; Fox, Keith A A; Katus, Hugo; Schroeder, Stefan; Schunkert, Heribert; Priori, Silvia
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.
Katz, Larry; Hallam, Megan C.; Duvall, Michael M.; Polsky, Zoe
Interactive student response systems, commonly referred to as clickers, have increased in popularity in higher education classrooms as a means to improve engagement and enhance learning. Clicker systems come with handheld devices as well as a radio frequency receiver. A Wi-Fi connection to the receiver is possible, enabling students to use their…
Belkić, Dzevad; Belkić, Karen
With our increased understanding of cancer cell biology, molecular imaging offers a strategic bridge to oncology. This complements anatomic imaging, particularly magnetic resonance (MR) imaging, which is sensitive but not specific. Among the potential harms of false positive findings is lowered adherence to recommended surveillance post-therapy and by persons at increased cancer risk. Positron emission tomography (PET) plus computerized tomography (CT) is the molecular imaging modality most widely used in oncology. In up to 40% of cases, PET-CT leads to changes in therapeutic management. Newer PET tracers can detect tumor hypoxia, bone metastases in androgen-sensitive prostate cancer, and human epidermal growth factor receptor type 2 (HER2)-expressive tumors. Magnetic resonance spectroscopy provides insight into several metabolites at the same time. Combined with MRI, this yields magnetic resonance spectroscopic imaging (MRSI), which does not entail ionizing radiation and is thus suitable for repeated monitoring. Using advanced signal processing, quantitative information can be gleaned about molecular markers of brain, breast, prostate and other cancers. Radiation oncology has benefited from molecular imaging via PET-CT and MRSI. Advanced mathematical approaches can improve dose planning in stereotactic radiosurgery, stereotactic body radiotherapy and high dose-rate brachytherapy. Molecular imaging will likely impact profoundly on clinical decision making in oncology. Molecular imaging via MR could facilitate early detection especially in persons at high risk for specific cancers.
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
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.
Jaichumchuen, Tassana; Jarmornmarn, Sirinapa; Leelayoova, Saovanee; Mungthin, Mathirut
To determine personality and ability of social adjustment of medical cadets, Phramongkutkao College of Medicine. In addition, the factors influencing social adjustment in these medical cadets were evaluated. The study population consisted of 45 medical cadets in their second year of a 6-year medical curriculum of Phramongkutkao College of Medicine. All study medical cadets gave written informed consent. The medical cadets completed a baseline assessment including a standardized questionnaire for general information and social adjustment. Personality traits were determined by a standard personality test, the 16 Personality Factor Questionnaire (16PF). The personalities of medical cadets were in between reserved and outgoing socially aware, concerns, shrewd and practical. The ability of social adjustment in these medical cadets was high. Social adjustment was significantly different between medical cadets who received different scholarships. Social adjustment of the medical cadets was positively correlated with personalities: factor C (emotionally stable), factor I (sensitivity), factor G (group conformity), factor H (social boldness), and factor Q3 (self-control), but negatively correlated with factor M (abstractedness), and factor Q2 (self-sufficiency). This study presents the unique personalities of medical cadets. Social adjustment is significantly different between medical cadets with different source of scholarships. Longitudinal study of the influence of personality and social adjustment on academic performance needs to be performed.
McHugh, Hugh Marshall; Walker, Simon Thomas
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.
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.
Widmer, R. Jay; Lerman, Amir
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
Frese, Karen S.; Katus, Hugo A.; Meder, Benjamin
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
Henrotin, Yves; Sanchez, Christelle; Cornet, Anne; Van de Put, Joachim; Douette, Pierre; Gharbi, Myriam
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
Antonucci, R; Atzori, L; Barberini, L; Fanos, V
Metabolomics is a new approach based on the systematic study of the full complement of metabolites in a biological sample. This technology consists of two sequential steps: (1) an experimental technique, based on mass spectrometry or nuclear magnetic resonance (NMR) spectroscopy, designed to profile low molecular weight compounds, and (2) multivariate data analysis. Metabolomic analysis of biofluids or tissues has been successfully used in the fields of physiology, diagnostics, functional genomics, pharmacology, toxicology and nutrition. Recent studies have evaluated how physiological variables or pathological conditions can affect metabolomic profiles of different biofluids in pediatric populations. Little is known about the overall metabolic status of the term and preterm neonate. On the other hand, the management of sick or preterm newborns might be improved if more information on perinatal/neonatal maturational processes and their metabolic background were available. At present, the use of metabolomics in Neonatology is still in the pioneering phase. Meaningful diagnostic information and simple, non-invasive collection techniques make urine a particularly suitable biofluid for metabolomic approach in neonatal medicine. Using NMR-based metabolomic analysis of urine, distinct metabolic patterns have been shown to be associated with different classes of gestational age in a population of preterm and term infants. Together with genomics and proteomics, metabolomics appears to be a promising tool in Neonatology for the monitoring of postnatal metabolic maturation, the identification of biomarkers as early predictors of outcome, the diagnosis and monitoring of various diseases and the "tailored" management of neonatal disorders.
Hempel, Dorothea; Pivetta, Emanuele; Kimberly, Heidi H
Clinician-performed ultrasound has become a widely utilized tool in emergency medicine and is a mandatory component of the residency curricula. We aimed to assess the effect of personalized peer-comparison feedback on the number of ultrasound scans performed by emergency medicine residents. A personalized peer-comparison feedback was performed by sending 44 emergency medicine residents a document including personally identified scan numbers and class averages. The number of ultrasound scans per clinical shift for a 3-month period before and after the feedback intervention was calculated. The average number of ultrasound exams per shift improved from 0.39 scans/shift before to 0.61 scans/shift after feedback (p = 0.04). Among the second year residents, the scans/shift ratio improved from 0.35 to 0.87 (p = 0.07); for third year residents, from 0.51 to 0.58 (p = 0.46); and from 0.33 to 0.41 (p = 0.21) for the fourth year residents before and after the intervention, respectively. A personalized peer-comparison feedback provided to emergency medicine residents resulted in increased ultrasound scan numbers per clinical shift. Incorporating this method of feedback may help encourage residents to scan more frequently.
Johnston, John D; Feldschreiber, Peter
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
Background Translational medicine requires the integration of knowledge using heterogeneous data from health care to the life sciences. Here, we describe a collaborative effort to produce a prototype Translational Medicine Knowledge Base (TMKB) capable of answering questions relating to clinical practice and pharmaceutical drug discovery. Results We developed the Translational Medicine Ontology (TMO) as a unifying ontology to integrate chemical, genomic and proteomic data with disease, treatment, and electronic health records. We demonstrate the use of Semantic Web technologies in the integration of patient and biomedical data, and reveal how such a knowledge base can aid physicians in providing tailored patient care and facilitate the recruitment of patients into active clinical trials. Thus, patients, physicians and researchers may explore the knowledge base to better understand therapeutic options, efficacy, and mechanisms of action. Conclusions This work takes an important step in using Semantic Web technologies to facilitate integration of relevant, distributed, external sources and progress towards a computational platform to support personalized medicine. Availability TMO can be downloaded from http://code.google.com/p/translationalmedicineontology and TMKB can be accessed at http://tm.semanticscience.org/sparql. PMID:21624155
Luciano, Joanne S; Andersson, Bosse; Batchelor, Colin; Bodenreider, Olivier; Clark, Tim; Denney, Christine K; Domarew, Christopher; Gambet, Thomas; Harland, Lee; Jentzsch, Anja; Kashyap, Vipul; Kos, Peter; Kozlovsky, Julia; Lebo, Timothy; Marshall, Scott M; McCusker, James P; McGuinness, Deborah L; Ogbuji, Chimezie; Pichler, Elgar; Powers, Robert L; Prud'hommeaux, Eric; Samwald, Matthias; Schriml, Lynn; Tonellato, Peter J; Whetzel, Patricia L; Zhao, Jun; Stephens, Susie; Dumontier, Michel
Translational medicine requires the integration of knowledge using heterogeneous data from health care to the life sciences. Here, we describe a collaborative effort to produce a prototype Translational Medicine Knowledge Base (TMKB) capable of answering questions relating to clinical practice and pharmaceutical drug discovery. We developed the Translational Medicine Ontology (TMO) as a unifying ontology to integrate chemical, genomic and proteomic data with disease, treatment, and electronic health records. We demonstrate the use of Semantic Web technologies in the integration of patient and biomedical data, and reveal how such a knowledge base can aid physicians in providing tailored patient care and facilitate the recruitment of patients into active clinical trials. Thus, patients, physicians and researchers may explore the knowledge base to better understand therapeutic options, efficacy, and mechanisms of action. This work takes an important step in using Semantic Web technologies to facilitate integration of relevant, distributed, external sources and progress towards a computational platform to support personalized medicine. TMO can be downloaded from http://code.google.com/p/translationalmedicineontology and TMKB can be accessed at http://tm.semanticscience.org/sparql.
Paczesny, Sophie; Raiker, Nisha; Brooks, Sam; Mumaw, Christy
Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the most effective form of tumor immunotherapy available to date and the frequency of transplants continues to increase worldwide. However, while allo-HSCT usually induces a beneficial graft-versus-leukemia (GVL) effect, a major source of morbidity and mortality following allo-HSCT is graft-versus-host disease (GVHD). Currently available diagnostic and staging tools frequently fail to identify those at higher risk for GVHD morbidity, treatment unresponsiveness, and death. Furthermore, there are shortcomings in the risk stratification of patients before GVHD clinical signs develop. In parallel, recent years have been characterized by an explosive evolution of omics technologies, largely due to technological advancements in chemistry, engineering, and bioinformatics. Building on these opportunities, plasma biomarkers have been identified and validated as promising diagnostic and prognostic tools for acute GVHD. This review summarizes current information on the types of GVHD biomarkers, the omics tools used to identify them, the biomarkers currently validated as acute GVHD markers, and future recommendations for incorporating biomarkers into new grading algorithms for risk-stratifying patients and creating more personalized treatment courses. Future directions will include randomized evaluations of these biomarkers in multicenter prospective studies while extending on the need for biomarkers of chronic GVHD. PMID:23959582
Marques, Andrea Marin; Turner, Alice; de Mello, Ramon Andrade
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
Altai, Mohamed; Orlova, Anna; Tolmachev, Vladimir
Receptor tyrosine kinases (RTK) are transmembrane receptors regulating cellular proliferation, differentiation, apoptosis, motility and recruitment of the vasculature. Aberrant expression and/or function of RTK have been detected in many malignant tumors and are considered to be a part of the transformed phenotype. The action of several classes of anti-cancer drugs is based on specific recognition of RTK. Monoclonal antibodies target extracellular binding domains, while tyrosine kinase inhibitors (TKI) bind to intracellular kinase domains to suppress RTK signaling. The issues regarding the efficient use of RTK targeting are the inter- and intra-patient heterogeneity of RTK expression and the changes of expression levels during the course of disease and in response to therapy. Radionuclide molecular imaging of RTK expression may aid in selecting patients who would benefit from RTK-targeting therapy and in identifying non-responders. Therefore, the therapy would be more personalized. Currently, radiolabeled proteins (monoclonal antibodies and their fragments, natural peptides ligands to RTK and de novo selected affinity proteins) and TKI and their analogues are under development for the visualization of RTK. In this review, we discuss the advantages and disadvantages of these approaches.
Tsai, Wan-Min; Zhang, Heping; Buta, Eugenia; O’Malley, Stephanie
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 ) 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
Simon, Gregory E.; Perlis, Roy H.
Objective Response to specific depression treatments varies widely among individuals. Understanding and predicting that variation could have great benefits for people living with depression. Method The authors describe a conceptual model for identifying and evaluating evidence relevant to personalizing treatment for depression. They review evidence related to three specific treatment decisions: choice between antidepressant medication and psychotherapy, selection of a specific antidepressant medication, and selection of a specific psychotherapy. They then discuss potential explanations for negative findings as well as implications for research and clinical practice. Results Many previous studies have examined general predictors of outcome, but few have examined true moderators (predictors of differential response to alternative treatments). The limited evidence indicates that some specific clinical characteristics may inform the choice between antidepressant medication and psychotherapy and the choice of specific antidepressant medication. Research to date does not identify any biologic or genetic predictors of sufficient clinical utility to inform the choice between medication and psychotherapy, the selection of specific medication, or the selection of a specific psychotherapy. Conclusions While individuals vary widely in response to specific depression treatments, that variability remains largely unpredictable. Future research should focus on identifying true moderator effects and should consider how response to treatments varies across episodes. At this time, our inability to match patients with treatments implies that systematic follow-up and adjustment of treatment is more important than initial treatment selection. PMID:20843873
Castiblanco, John; Anaya, Juan-Manuel
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
Rubin, Daniel B; van der Laan, Mark J
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.
The WHOLE approach to personalized medicine represents an effort to integrate clinical and genomic profiling jointly into preventative health care and the promotion of wellness. Our premise is that genotypes alone are insufficient to predict health outcomes, since they fail to account for individualized responses to the environment and life history. Instead, integrative genomic approaches incorporating whole genome sequences and transcriptome and epigenome profiles, all combined with extensive clinical data obtained at annual health evaluations, have the potential to provide more informative wellness classification. As with traditional medicine where the physician interprets subclinical signs in light of the person's health history, truly personalized medicine will be founded on algorithms that extract relevant information from genomes but will also require interpretation in light of the triggers, behaviors, and environment that are unique to each person. This chapter discusses some of the major obstacles to implementation, from development of risk scores through integration of diverse omic data types to presentation of results in a format that fosters development of personal health action plans.
Background The goal of personalized medicine is to provide patients optimal drug screening and treatment based on individual genomic or proteomic profiles. Reverse-Phase Protein Array (RPPA) technology offers proteomic information of cancer patients which may be directly related to drug sensitivity. For cancer patients with different drug sensitivity, the proteomic profiling reveals important pathophysiologic information which can be used to predict chemotherapy responses. Results The goal of this paper is to present a framework for personalized medicine using both RPPA and drug sensitivity (drug resistance or intolerance). In the proposed personalized medicine system, the prediction of drug sensitivity is obtained by a proposed augmented naive Bayesian classifier (ANBC) whose edges between attributes are augmented in the network structure of naive Bayesian classifier. For discriminative structure learning of ANBC, local classification rate (LCR) is used to score augmented edges, and greedy search algorithm is used to find the discriminative structure that maximizes classification rate (CR). Once a classifier is trained by RPPA and drug sensitivity using cancer patient samples, the classifier is able to predict the drug sensitivity given RPPA information from a patient. Conclusion In this paper we proposed a framework for personalized medicine where a patient is profiled by RPPA and drug sensitivity is predicted by ANBC and LCR. Experimental results with lung cancer data demonstrate that RPPA can be used to profile patients for drug sensitivity prediction by Bayesian network classifier, and the proposed ANBC for personalized cancer medicine achieves better prediction accuracy than naive Bayes classifier in small sample size data on average and outperforms other the state-of-the-art classifier methods in terms of classification accuracy. PMID:22759571
Ho, Dean; Wang, Chung-Huei Katherine; Chow, Edward Kai-Hua
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
Zarco, M F; Vess, T J; Ginsburg, G S
Every human body contains a personalized microbiome that is essential to maintaining health but capable of eliciting disease. The oral microbiome is particularly imperative to health because it can cause both oral and systemic disease. The oral microbiome rests within biofilms throughout the oral cavity, forming an ecosystem that maintains health when in equilibrium. However, certain ecological shifts in the microbiome allow pathogens to manifest and cause disease. Severe forms of oral disease may result in systemic disease at different body sites. Microbiomics and metagenomics are two fields of research that have emerged to identify the presence of specific microbes in the body and understand the nature of the microbiome activity during both health and disease. The analysis of the microbiome and its genomes will pave the way for more effective therapeutic and diagnostic techniques and, ultimately, contribute to the development of personalized medicine and personalized dental medicine. © 2011 John Wiley & Sons A/S.
So, Derek; Joly, Yann
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.
So, Derek; Joly, Yann
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
Mitropoulos, Konstantinos; Innocenti, Federico; van Schaik, Ron H.; Lezhava, Alexander; Tzimas, Giannis; Kollia, Panagoula; Macek, Milan; Fortina, Paolo; Patrinos, George P.
The Golden Helix Institute of Biomedical Research is an international non-profit scientific organization with interdisciplinary research and educational activities in the field of genome medicine in Europe, Asia and Latin America. These activities are supervised by an international scientific advisory council, consisting of world leaders in the field of genomics and translational medicine. Research activities include the regional coordination of the Pharmacogenomics for Every Nation Initiative in Europe, in an effort to integrate pharmacogenomics in developing countries, the development of several National/Ethnic Genetic databases and related web services and the critical assessment of the impact of genetics and genomic medicine to society in various countries. Also, educational activities include the organization of the Golden Helix Symposia®, which are high profile scientific research symposia in the field of personalized medicine, and the Golden Helix Pharmacogenomics Days, an international educational activity focused on pharmacogenomics, as part of its international pharmacogenomics education and outreach efforts. PMID:22379996
Hristoskova, Anna; Sakkalis, Vangelis; Zacharioudakis, Giorgos; Tsiknakis, Manolis; De Turck, Filip
A major challenge related to caring for patients with chronic conditions is the early detection of exacerbations of the disease. Medical personnel should be contacted immediately in order to intervene in time before an acute state is reached, ensuring patient safety. This paper proposes an approach to an ambient intelligence (AmI) framework supporting real-time remote monitoring of patients diagnosed with congestive heart failure (CHF). Its novelty is the integration of: (i) personalized monitoring of the patients health status and risk stage; (ii) intelligent alerting of the dedicated physician through the construction of medical workflows on-the-fly; and (iii) dynamic adaptation of the vital signs’ monitoring environment on any available device or smart phone located in close proximity to the physician depending on new medical measurements, additional disease specifications or the failure of the infrastructure. The intelligence lies in the adoption of semantics providing for a personalized and automated emergency alerting that smoothly interacts with the physician, regardless of his location, ensuring timely intervention during an emergency. It is evaluated on a medical emergency scenario, where in the case of exceeded patient thresholds, medical personnel are localized and contacted, presenting ad hoc information on the patient's condition on the most suited device within the physician's reach. PMID:24445411
Alù, Andrea; Engheta, Nader
Metamaterials represent an exciting area of research, which has rapidly evolved in the past two decades from basic research to applied technology, and it now encompasses a broad range of scientific communities, with continuous and exciting scientific progress. Our personal journey in the field of artificial materials and metamaterials spans over many years, and has brought us through an exciting adventure in the theoretical understanding of wave interactions with materials, with several implications for new devices and components for radio-wave, infrared, optical and acoustic technology. In this paper, we provide a brief overview of some highlights of our contribution to this area of research, looking forward to several exciting opportunities for further scientific and technical progress in this area of science and technology.
This paper describes the theoretical principles for the establishment of a parallel and complementary modality of healthcare delivery - named Coproduction of Health (CpH). This service-model activates digital data, information, and knowledge about health, healthy choices, and the individuals' health-state and computes through personalized models context-aware communication and advice. "Lightweight technologies" (smartphones, tablets, application stores) would serve as the technology close to the end-users (citizens, patients, clients, customers), connecting them with "big data" in conventionally and non-conventionally organized data repositories. The CpH modality aims at providing synergies between professional healthcare, selfcare, informal care and provides data-fusion from several sources such as health characteristics of consumer goods, from sensors, actuators, and health related data-repositories, and turns this into "health added value" for the individual. A theoretical business model respecting healthcare values, ethics, and legal foundation is also sketched out.
McClellan, Kelly A; Avard, Denise; Simard, Jacques; Knoppers, Bartha M
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.
Santurro, Alessandro; Vullo, Anna Maria; Borro, Marina; Gentile, Giovanna; Russa, Raffaele La; Simmaco, Maurizio; Frati, Paola; Fineschi, Vittorio
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.
Lejbkowicz, Izabella; Caspi, Opher; Miller, Ariel
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.
Stefano, George B; Kream, Richard M
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.
Sverdlov, E D
The review is devoted to the widely discussed problems of the feasibility of "systems biology" and "P4-personalized (systems) medicine" from the standpoint of complex living systems. The following conclusions are made. 1. It is impossible to reach the ultimate goals of systems biology and medicine based solely on data of genomics and other 'omics'. Systems biology may be efficient for an approximate description of certain functional modules provided that there are experimental data for the majority of the components of the system under study. 2. P4-personalized (systems) medicine based on systems biology is unrealistic fundamentally and technically, as well as from the economic point of view. 3. A possible way is to search for the targets common for all or for large groups of individuals, and the development of postgenomic generalized medicine. 4. Also realistic are some of currently developing options of personalized medicine, such as e. g. the use of patient stem cells that are returned to the patient after culturing, or of gene-modified infiltrating T-lymphocytes in so-called chimeric antigen receptor (CAR) cancer therapy. CAR therapy is a personalized treatment that uses T-lymphocytes taken from a patient and gene-modified in such a way that to recognize and kill cancer cells. 5. Despite of numerous claims, the paradigms of the postgenomic sciences were not changed. Traditional approaches of molecular biology, genetics, biochemistry, and physiology still remain in force in the postgenomic era. They are enforced due to the data obtained by 'omics'. These data may be a base for putting forward and testing hypotheses about the mechanisms of functional processes.
Jang, Shih-Fan; Liu, Wei-Hsiu; Song, Wen-Shin; Chiang, Kuan-Lin; Ma, Hsin-I; Kao, Chung-Lan; Chen, Ming-Teh
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
Jang, Shih-Fan; Liu, Wei-Hsiu; Song, Wen-Shin; Chiang, Kuan-Lin; Ma, Hsin-I; Kao, Chung-Lan; Chen, Ming-Teh
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
Zenner, H P; Pfister, M; Friese, N; Zrenner, E; Röcken, M
To evaluate present options for the indication of cochlear implants (CI) and new forms of treatment for head and neck cancer, melanomas and basal cell carcinomas, with emphasis on future perspectives. A literature search was performed in the PubMed database. Search parameters were "personalized medicine", "individualized medicine" and "molecular medicine". Personalized medicine based on molecular-genetic evaluation of functional proteins such as otoferlin, connexin 26 and KCNQ4 or the Usher gene is becoming increasingly important for the indication of CI in the context of infant deafness. Determination of HER2/EGFR mutations in the epithelial growth factor receptor (EGFR) gene may be an important prognostic parameter for therapeutic decisions in head and neck cancer patients. In basal cell carcinoma therapy, mutations in the Hedgehog (PCTH1) and Smoothened (SMO) pathways strongly influence the indication of therapeutic Hedgehog inhibition, e.g. using small molecules. Analyses of c-Kit receptor, BRAF-600E and NRAS mutations are required for specific molecular therapy of metastasizing melanomas. The significant advances in the field of specific molecular therapy are best illustrated by the availability of the first gene therapeutic procedures for treatment of RPE65-induced infantile retinal degradation. The aim of personalized molecular medicine is to identify patients who will respond particularly positively or negatively (e.g. in terms of adverse side effects) to a therapy using the methods of molecular medicine. This should allow a specific therapy to be successfully applied or preclude its indication in order to avoid serious adverse side effects. This approach serves to stratify patients for adequate treatment.
Molecular imaging based personalized therapy has been a fascinating concept for individualized therapeutic strategy, which is able to attain the highest efficacy and reduce adverse effects in certain patients. Theranostics, which integrates diagnostic testing to detect molecular targets for particular therapeutic modalities, is one of the key technologies that contribute to the success of personalized medicine. Although the term "theranostics" was used after the second millennium, its basic principle was applied more than 70 years ago in the field of thyroidology with radioiodine molecular imaging. Differentiated thyroid cancer, which arises from follicular cells in the thyroid, is the most common endocrine malignancy, and theranostic radioiodine has been successfully applied to diagnose and treat differentiated thyroid cancer, the applications of which were included in the guidelines published by various thyroid or nuclear medicine societies. Through better pathophysiologic understanding of thyroid cancer and advancements in nuclear technologies, theranostic radioiodine contributes more to modern tailored personalized management by providing high therapeutic effect and by avoiding significant adverse effects in differentiated thyroid cancer. This review details the inception of theranostic radioiodine and recent radioiodine applications for differentiated thyroid cancer management as a prototype of personalized medicine based on molecular imaging.
Scheen, A J
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
Henney, Adriano M
Abstract The concept of personalized medicine is not new. It is being discussed with increasing interest in the medical, scientific, and general media because of the availability of advanced scientific and computational technologies, and the promise of the potential to improve the targeting and delivery of novel medicines. It is also being seen as one approach that may have a beneficial impact on reducing health care budgets. But what are the challenges that need to be addressed in its implementation in the clinic? This article poses some provocative questions and suggests some things that need to be considered. PMID:22661132
Polivka, Jiri; Polivka, Jiri; Karlikova, Marie; Topolcan, Ondrej
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.
Blas, Alexa Jane T; Beltran, Kenneth Matthew B; Martinez, Pauline Gail V; Yao, Daryl Patrick G
Purpose This review aims to map the scope of published research on occupational therapy (OT) interventions and pertinent work and work-related outcomes for persons with occupational injuries and diseases. Methods The scoping review adapted Arksey and O'Malley's framework. Six electronic databases were searched. Ancestral search was also done on five systematic reviews. The search was conducted from September 2015 to October 2015. Interventions and outcomes were coded using the International Classification of Functioning, Disability and Health Core Set for Vocational Rehabilitation to plot trends. Results Forty-six articles were included in the review. The top five intervention approaches included: acquiring skills (12.27%), health services, systems, and policies (10.43%), products and technology for employment (9.20%), handling stress and other psychological demands (7.98%), and apprenticeship (6.74%). The top five outcomes targeted included: remunerative employment (15.71%); sensation of pain (10.99%); emotional functions (5.76%); handling stress and other psychological demands (5.76%); economic self-sufficiency (4.71%); muscle endurance functions (4.71%); exercise tolerance functions (4.71%); undertaking multiple tasks (4.19%); acquiring, keeping, and terminating a job (4.19%); and looking after one's health (4.19%). Conclusion The trend in interventions show the use of activities and environment facilitators which are attuned to the conceptual nature of OT. Furthermore, the trend in outcomes show that there is substantial evidence that supports the use of OT to target work. This review may provide a platform for collaboration with other professionals and also help identify research directions to strengthen the evidence base for OT in work-related practice.
Bochud, Murielle; Burnier, Michel; Guessous, Idris
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
Jones, Dixie A; Shipman, Jean P; Plaut, Daphne A; Selden, Catherine R
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). 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. 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. 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.
Shipman, Jean P; Plaut, Daphne A; Selden, Catherine R
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
Wildevuur, Sabine E; Simonse, Lianne W L
%, 47/89) diseases. We found 60 relevant studies (17.1%, 60/350) on person-centered shared management ICT, primarily using telemedicine systems as personalized ICT. The highest impact measured related to the increase in empowerment (15.4%, 54/350). Health-related quality of life accounted for 8%. The highest impact connected to health professionals was an increase in clinical outcome (11.7%, 41/350). The impacts on organization outcomes were decrease in hospitalization (12.3%, 43/350) and increase of cost efficiency (10.9%, 38/350). This scoping review outlined ICT-enabled PCC in chronic disease management. Persons with a chronic disease could benefit from an ICT-enabled PCC approach, but ICT-PCC also yields organizational paybacks. It could lead to an increase in health care usage, as reported in some studies. Few interventions could be regarded as "fully" addressing PCC. This review will be especially helpful to those deciding on areas where further development of research or implementation of ICT-enabled PCC may be warranted.
Simonse, Lianne WL
respiratory (63%, 46/73) and cardiovascular (53%, 47/89) diseases. We found 60 relevant studies (17.1%, 60/350) on person-centered shared management ICT, primarily using telemedicine systems as personalized ICT. The highest impact measured related to the increase in empowerment (15.4%, 54/350). Health-related quality of life accounted for 8%. The highest impact connected to health professionals was an increase in clinical outcome (11.7%, 41/350). The impacts on organization outcomes were decrease in hospitalization (12.3%, 43/350) and increase of cost efficiency (10.9%, 38/350). Conclusions This scoping review outlined ICT-enabled PCC in chronic disease management. Persons with a chronic disease could benefit from an ICT-enabled PCC approach, but ICT-PCC also yields organizational paybacks. It could lead to an increase in health care usage, as reported in some studies. Few interventions could be regarded as “fully” addressing PCC. This review will be especially helpful to those deciding on areas where further development of research or implementation of ICT-enabled PCC may be warranted. PMID:25831199
Lymberis, A; Paradiso, R
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.
Elder, Nancy C; Tubb, Matthew R
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.
Laske, Timothy G; Harlow, Henry J; Garshelis, David L; Iaizzo, Paul A
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.
Villanueva, Augusto; Toffanin, Sara; Llovet, Josep M.
Recent advances have improved our understanding of the molecular pathogenesis of hepatocellular carcinoma (HCC). The development of high-throughput technologies able to simultaneously investigate thousands of genes (SNP-array, gene expression microarray, etc.) has opened a new era in translational research. However, obtaining a molecular classification of HCC remains a striking challenge. Different investigators attempted to classify patients according to their liver cancer molecular background, a feature that will path the way for trial enrichment and personalized medicine. Currently, HCC can be classified in molecular classes according to Wnt-βcatenin pathway activation, proliferation signature activation (associated with chromosomal instability), and other subgroups. In parallel, the first-time ever positive results of a phase III trial in advanced HCC with the multikinase inhibitor sorafenib have encouraged this approach. The current review summarizes the molecular classifications of HCC reported, analyzes the status of targeted therapies tested in clinical trials, and evaluates feasibility of personalized medicine approaches in HCC. PMID:18525342
Chaker, Adam M; Klimek, L
Individualized, personalized or stratified medicine approaches offer emerging opportunities in the field of allergy and ENT. Avoidance of side effects, targeted therapy approaches and stratified prevention promise better outcomes and optimal results for patients. Conceptual incongruencies remain with regard to definitions and perceptions of "personalized medicine". Serious ethical considerations have to be taken into account. The development of pharmacogenomics, molecular phenotyping, genomic sequencing and other -omics opens the door to unique mechanistic therapeutic advances. The molecular allergology and recombinant diagnostics available are tools that offer substantial improved diagnostics for the benefit of allergic patients, e. g. in anaphylaxis and food allergy. For stratified therapeutic approaches, however, regulatory affairs will have to keep pace with medical and scientific discovery.
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
Fang, Yantian; Yao, Qizhi; Chen, Zongyou; Xiang, Jianbin; William, Fisher E.; Gibbs, Richard A.; Chen, Changyi
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
Scheen, A J
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.
Griewank, Klaus G; Scolyer, Richard A; Thompson, John F; Flaherty, Keith T; Schadendorf, Dirk; Murali, Rajmohan
High-throughput sequencing technologies are providing new insights into the genetic alterations involved in melanomagenesis. It appears likely that most genetic events important in the pathogenesis of melanoma will be discovered over the next few years. Genetic analysis is also increasingly being used to direct patient care. In parallel with the discovery of new genes and the elucidation of molecular pathways important in the development of melanoma, therapies targeting these pathways are becoming available. In other words, the age of personalized medicine has arrived, characterized by molecular profiling of melanoma to identify the relevant genetic alterations and the abnormal signaling mechanisms involved, followed by selection of optimal, individualized therapies. In this review, we summarize the key genetic alterations in melanoma and the development of targeted agents against melanomas bearing specific mutations. These developments in melanoma serve as a model for the implementation of personalized medicine for patients with all cancers.
A personalized medicine, a recent trend of clinical pharmacology, makes possible the individual approach to the choice of the drugs and their dosage. According to the results of a study of the activity of different biomarkers, particularly the isoenzymes of the cytochrome P-450, they provide the efficiency and safety of the pharmacotherapy. The activity of the isoenzymes of the cytochrome P-450 determines an individual pharmacological response and depends on many factors, including genetic ones. The biomarkers of the activity of the isoenzymes of the cytochrome P-450 should be tested in the clinical practice settings using the simple and cheap methods, one of the most available is an immunofluorescent assay. The skilled staff and the centers of personalized medicine are necessary for this approach. PMID:23663439
Garfeld, Susan; Douglas, Michael P; MacDonald, Karen V; Marshall, Deborah A; Phillips, Kathryn A
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
Everett, Jeremy R.
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
Suh, K. Stephen; Sarojini, Sreeja; Youssif, Maher; Nalley, Kip; Milinovikj, Natasha; Elloumi, Fathi; Russell, Steven; Pecora, Andrew; Schecter, Elyssa; Goy, Andre
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
Magee, M; Hojat, M
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.
Kichko, Kateryna; Marschall, Paul; Flessa, Steffen
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
Kichko, Kateryna; Marschall, Paul; Flessa, Steffen
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.
Stern, Andrew M.; Schurdak, Mark E.; Bahar, Ivet; Berg, Jeremy M.; Taylor, D. Lansing
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
Shinko, Diana; Diakos, Connie I; Clarke, Stephen J; Charles, Kellie A
Over the last decade there has been significant progress towards the development of personalized or "precision" medicine for many patients with cancer. However, there still remain subpopulations of cancer patients that do not possess a tumor mutation profile that is successfully targeted by the newer molecular anticancer drugs and further personalized approaches are needed. The presence of cancer-related systemic inflammation represents an underappreciated subpopulation of cancer patients needing personalized therapy. For ∼25% of all advanced cancer patients, regardless of histological subtype, the patients with systemic inflammation have significantly poorer response to chemotherapy and also shorter overall survival compared to those cancer patients without inflammation. The development of cancer-related systemic inflammation involves interactions between host and tumor cells that are potential new drug targets in cancer chemotherapy. In this review we discuss the challenges and clinical opportunities to develop new therapeutic strategies for this underappreciated drug target. © 2017 American Society for Clinical Pharmacology and Therapeutics.
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
Solomon, Louis M; Sieczkiewicz, Gregory J
The biotechnology revolution promises unfathomable future scientific discovery. One of the potential benefits is the accelerated introduction of new diagnostics and treatments to the general public. The right medication for the right patient is the goal of personalized medicine, which directly benefits from many of biotechnology's biggest and most recent advances. The US patent system rewards innovation in medicine and other arts and sciences by granting innovators, for a period of time, the right to exclude others from using what was invented. One of the purposes of the patent system is to trade that right to exclude, and in its stead obtain the patent holder's obligation to fully and publicly disclose the essence of the innovations so that they can be improved, thus advancing the common welfare. A tension exists between personalized medicine's need for access to and use of scientific advances and the patent system's reward of exclusive use or nonuse to innovators. This tension may result in fewer diagnostic and therapeutic tools brought to the market and generally adopted. The risk seems particularly acute with respect to the diagnostic and therapeutic tools arising from genetic testing that hold specific value for a subset of the population. The judicial system has introduced ethical exceptions that overcome a patent holder's right to exclude; these judicial overrides relate to the provision of certain types of medical procedures and the development of certain types of new drugs, and not, apparently, to the use of diagnostic and therapeutic tools essential to the success of personalized medicine. A serious question exists as to whether legislative action is necessary to increase public access to genetic testing.
Challenges in the development and reimbursement of personalized medicine-payer and manufacturer perspectives and implications for health economics and outcomes research: a report of the ISPOR personalized medicine special interest group.
Faulkner, Eric; Annemans, Lieven; Garrison, Lou; Helfand, Mark; Holtorf, Anke-Peggy; Hornberger, John; Hughes, Dyfrig; Li, Tracy; Malone, Daniel; Payne, Katherine; Siebert, Uwe; Towse, Adrian; Veenstra, David; Watkins, John
Personalized medicine technologies can improve individual health by delivering the right dose of the right drug to the right patient at the right time but create challenges in deciding which technologies offer sufficient value to justify widespread diffusion. Personalized medicine technologies, however, do not neatly fit into existing health technology assessment and reimbursement processes. In this article, the Personalized Medicine Special Interest Group of the International Society for Pharmacoeconomics and Outcomes Research evaluated key development and reimbursement considerations from the payer and manufacturer perspectives. Five key areas in which health economics and outcomes research best practices could be developed to improve value assessment, reimbursement, and patient access decisions for personalized medicine have been identified. These areas are as follows: 1 research prioritization and early value assessment, 2 best practices for clinical evidence development, 3 best practices for health economic assessment, 4 addressing health technology assessment challenges, and 5 new incentive and reimbursement approaches for personalized medicine. Key gaps in health economics and outcomes research best practices, decision standards, and value assessment processes are also discussed, along with next steps for evolving health economics and outcomes research practices in personalized medicine. Copyright © 2012 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.
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
Britten, Nicky; Maguire, Kath
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.
Leyens, Lada; Richer, Étienne; Melien, Øyvind; Ballensiefen, Wolfgang; Brand, Angela
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. © 2015 S. Karger AG, Basel.
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.
Gomah, Mohamed E; Turley, James P; Lu, Huimin; Jones, Dan
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.
Dimitrakopoulou, Konstantina; Dimitrakopoulos, Georgios N; Sgarbas, Kyriakos N; Bezerianos, Anastasios
Recent advances in pharmacogenomics technologies allow bold steps to be taken towards personalized medicine, more accurate health planning, and personalized drug development. In this framework, systems pharmacology network-based approaches offer an appealing way for integrating multi-omics data and set the basis for defining systems-level drug response biomarkers. On the road to individualized tamoxifen treatment in estrogen receptor-positive breast cancer patients, we examine the dynamics of the attendant pharmacological response mechanisms. By means of an "integromics" network approach, we assessed the tamoxifen effect through the way the high-order organization of interactome (i.e., the modules) is perturbed. To accomplish that, first we integrated the time series transcriptome data with the human protein interaction data, and second, an efficient module-detecting algorithm was applied onto the composite graphs. Our findings show that tamoxifen induces severe modular transformations on specific areas of the interactome. Our modular biomarkers in response to tamoxifen attest to the immunomodulatory role of tamoxifen, and further reveal that it deregulates cell cycle and apoptosis pathways, while coordinating the proteasome and basal transcription factors. To the best of our knowledge, this is the first report that informs the fields of personalized medicine and clinical pharmacology about the actual dynamic interactome response to tamoxifen administration.
Sansone, Randy A; Bohinc, R Jordan; Wiederman, Michael W
The extant literature on borderline personality disorder (BPD) and compliance with mental health treatment contains conflicting findings. However, among those individuals with this type of personality dysfunction, reduced compliance with mental health treatment appears to be the predominant theme. To our knowledge, the relationship between BPD and compliance with general health care has not been studied. In addition, there is no prior study in this area examining a primary care population. Using a cross-sectional survey methodology among a sample of internal medicine outpatients (N = 261), we assessed borderline personality symptoms with two self-report measures and general health care compliance or adherence with four self-report measures. With the exception of on-time arrival for doctor appointments, the remaining compliance variables demonstrated statistically significant relationships at the p < 0.01-0.001 levels, with borderline personality symptoms predicting reduced compliance (i.e., conscientiousness with medical treatment, regular dental check-ups, timely completion of laboratory work, following doctor's exercise and nutrition instructions, remembering to take medications, and Medical Outcomes Study General Adherence Score). Compared with participants without borderline personality symptoms, those participants with such symptoms in this study evidenced lower general health care compliance.
Sevick-Muraca, Eva M; Rasmussen, John C
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.
Bianchi, Diana W
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
Gibson, Greg; Marigorta, Urko M.; Ojagbeghru, Elohor R.; Park, Subin
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
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
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.
Akhmetov, Ildar; Bubnov, Rostyslav V
As reimbursement authorities are gaining greater power to influence the prescription behavior of physicians, it remains critical for life science companies focusing on personalized medicine to develop "tailor-made" payer engagement strategies to secure reimbursement and assure timely patient access to their innovative products. Depending on the types of such engagement, pharmaceutical and diagnostic companies may benefit by obtaining access to medical and pharmacy claims data, getting invaluable upfront inputs on evidence requirements and clinical trial design, and strengthening trust by payers, therefore avoiding uncertainties with regards to pricing, reimbursement, and research and development reinvestment. This article aims to study the evolving trend of partnering among two interdependent, yet confronting, stakeholder groups-payers and producers-as well as to identify the most promising payer engagement strategies based on cocreation of value introduced by life science companies in the past few years. We analyzed the recent case studies from both therapeutic and diagnostic realms considered as the "best practices" in payer engagement. The last 5 years were a breakout period for deals between life science companies and reimbursement authorities in the area of personalized medicine with a number of felicitous collaborative practices established already, and many more yet to emerge. We suggest that there are many ways for producers and payers to collaborate throughout the product life cycle-from data exchange and scientific counseling to research collaboration aimed at reducing healthcare costs, addressing adherence issues, and diminishing risks associated with future launches. The presented case studies provide clear insights on how successful personalized medicine companies customize their state-of-the-art payer engagement strategies to ensure closer proximity with payers and establish longer-term trust-based relationships.
Salzer, Helmut J F; Wassilew, Nasstasja; Köhler, Niklas; Olaru, Ioana D; Günther, Gunar; Herzmann, Christian; Kalsdorf, Barbara; Sanchez-Carballo, Patricia; Terhalle, Elena; Rolling, Thierry; Lange, Christoph; Heyckendorf, Jan
Chronic respiratory infectious diseases are causing high rates of morbidity and mortality worldwide. Tuberculosis, a major cause of chronic pulmonary infection, is currently responsible for approximately 1.5 million deaths per year. Although important advances in the fight against tuberculosis have been made, the progress towards eradication of this disease is being challenged by the dramatic increase in multidrug-resistant bacilli. Nontuberculous mycobacteria causing pulmonary disease and chronic pulmonary aspergillosis are emerging infectious diseases. In contrast to other infectious diseases, chronic respiratory infections share the trait of having highly variable treatment outcomes despite longstanding antimicrobial therapy. Recent scientific progress indicates that medicine is presently at a transition stage from programmatic to personalized management. We explain current state-of-the-art management concepts of chronic pulmonary infectious diseases as well as the underlying methods for therapeutic decisions and their implications for personalized medicine. Furthermore, we describe promising biomarkers and techniques with the potential to serve future individual treatment concepts in this field of difficult-to-treat patients. These include candidate markers to improve individual risk assessment for disease development, the design of tailor-made drug therapy regimens, and individualized biomarker-guided therapy duration to achieve relapse-free cure. In addition, the use of therapeutic drug monitoring to reach optimal drug dosing with the smallest rate of adverse events as well as candidate agents for future host-directed therapies are described. Taken together, personalized medicine will provide opportunities to substantially improve the management and treatment outcome of difficult-to-treat patients with chronic respiratory infections. © 2016 S. Karger AG, Basel.
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
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
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
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. 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. 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. 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.
Benz, Matthias R; Vargas, Hebert Alberto; Sala, Evis
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.
Juengst, Eric T; Settersten, Richard A; Fishman, Jennifer R; McGowan, Michelle L
Personalized genomic medicine (PGM) is a goal that currently unites a wide array of biomedical initiatives, and is promoted as a 'new paradigm for healthcare' by its champions. Its promissory virtues include individualized diagnosis and risk prediction, more effective prevention and health promotion, and patient empowerment. Beyond overcoming scientific and technological hurdles to realizing PGM, proponents may interpret and rank these promises differently, which carries ethical and social implications for the realization of PGM as an approach to healthcare. We examine competing visions of PGM's virtues and the directions in which they could take the field, in order to anticipate policy choices that may lie ahead for researchers, healthcare providers and the public.
Mehrian-Shai, Ruty; Reichardt, Juergen K V
This opinion piece focuses on the convergence of information technology (IT) in the form of personal monitors, especially smart phones and possibly also smart watches, individual genomic information and preventive healthcare and medicine. This may benefit each one of us not only individually but also society as a whole through iPH (individualized preventive healthcare). This shift driven by genomic and other technologies may well also change the relationship between patient and physician by empowering the former but giving him/her also much more individual responsibility.
Benz, Matthias R.; Vargas, Hebert Alberto; Sala, Evis
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
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
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.
Wright, David W; Wan, Shunzhou; Shublaq, Nour; Zasada, Stefan J; Coveney, Peter V
Despite the promises made that genomic sequencing would transform therapy by introducing a new era of personalized medicine, relatively few tangible breakthroughs have been made. This has led to the recognition that complex interactions at multiple spatial, temporal, and organizational levels may often combine to produce disease. Understanding this complexity requires that existing and future models are used and interpreted within a framework that incorporates knowledge derived from investigations at multiple levels of biological function. It also requires a computational infrastructure capable of dealing with the vast quantities of data generated by genomic approaches. In this review, we discuss the use of molecular modeling to generate quantitative and qualitative insights at the smallest scales of the systems biology hierarchy, how it can play an important role in the development of a systems understanding of disease and in the application of such knowledge to help discover new therapies and target existing ones on a personal level. Copyright © 2012 Wiley Periodicals, Inc.
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.
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
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
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.
Miller, Fiona A; Hayeems, Robin Z; Bytautas, Jessica P; Bedard, Philippe L; Ernst, Scott; Hirte, Hal; Hotte, Sebastien; Oza, Amit; Razak, Albiruni; Welch, Stephen; Winquist, Eric; Dancey, Janet; Siu, Lillian L
Developments in genomics, including next-generation sequencing technologies, are expected to enable a more personalized approach to clinical care, with improved risk stratification and treatment selection. In oncology, personalized medicine is particularly advanced and increasingly used to identify oncogenic variants in tumor tissue that predict responsiveness to specific drugs. Yet, the translational research needed to validate these technologies will be conducted in patients with late-stage cancer and is expected to produce results of variable clinical significance and incidentally identify genetic risks. To explore the experiential context in which much of personalized cancer care will be developed and evaluated, we conducted a qualitative interview study alongside a pilot feasibility study of targeted DNA sequencing of metastatic tumor biopsies in adult patients with advanced solid malignancies. We recruited 29/73 patients and 14/17 physicians; transcripts from semi-structured interviews were analyzed for thematic patterns using an interpretive descriptive approach. Patient hopes of benefit from research participation were enhanced by the promise of novel and targeted treatment but challenged by non-findings or by limited access to relevant trials. Family obligations informed a willingness to receive genetic information, which was perceived as burdensome given disease stage or as inconsequential given faced challenges. Physicians were optimistic about long-term potential but conservative about immediate benefits and mindful of elevated patient expectations; consent and counseling processes were expected to mitigate challenges from incidental findings. These findings suggest the need for information and decision tools to support physicians in communicating realistic prospects of benefit, and for cautious approaches to the generation of incidental genetic information.
Beck, Kelley D; Franks, Susan F; Hall, James R
To examine the relationship between postinjury personality and outcome in individuals with acquired brain injury. It was hypothesized that patients with differing levels of Introversive, Dejected, and Oppositional coping styles as described by Millon's Theory of Personality would show different outcomes after completion of a rehabilitation program. A retrospective chart review and completion of an outcome assessment was undertaken to examine study hypotheses. A postacute brain injury rehabilitation program. Fifty patients who completed the rehabilitation program between 2005 and 2008, who were 18 years of age or older, who possessed at least a sixth-grade reading level, and who completed a valid Millon Behavioral Medicine Diagnostic (MBMD) were selected. Rehabilitation therapists who worked with these patients were also recruited to assess patient outcomes. Charts of patients that met inclusion criteria were reviewed. Rehabilitation therapists completed the outcome measure retrospectively. The MBMD was used to predict outcome. The MBMD is a self-report questionnaire designed to assess psychosocial factors that relate to the course of medical treatment in chronic illness. The Mayo-Portland Adaptability Inventory (MPAI-4) was used to assess patient outcome. It is a 29-item assessment designed to evaluate the common physical, cognitive, emotional, behavioral, and social issues after acquired brain injury. Findings supported our hypotheses that patients with differing levels of Introversive and Oppositional Coping Styles would have significantly different outcomes after rehabilitation. Thus, individuals with mild/moderate to moderate/severe limitations had significantly greater scores on the Introversive and Oppositional coping compared with individuals with more successful outcomes. The results of this study support the idea that postinjury personality is an important factor in understanding outcome after completion of a brain-injury rehabilitation program
Beckman, Robert A.; Schemmann, Gunter S.; Yeang, Chen-Hsiang
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
Perilli, Viviana; Lancioni, Giulio E; Laporta, Dominga; Paparella, Adele; Caffò, Alessandro O; Singh, Nirbhay N; O'Reilly, Mark F; Sigafoos, Jeff; Oliva, Doretta
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 which the technology was not available, and continued with intervention in which the technology was used. The technology involved a net-book computer provided with specific software, a global system for mobile communication modem (GSM), a microswitch, and lists of partners to call with related photos. All the patients learned to use the system and made phone calls independently to a variety of partners, such as family members, friends, and caregivers. A social validation assessment, in which care and health professionals working with persons with dementia were asked to rate the patients' performance with the technology and with the help of a caregiver, provided generally more positive scores for the technology-assisted performance. The positive implications of the findings for daily programs of patients with Alzheimer's disease are discussed. Copyright © 2013 Elsevier Ltd. All rights reserved.
Blaus, Alison; Madabushi, Rajanikanth; Pacanowski, Michael; Rose, Martin; Schuck, Robert N; Stockbridge, Norman; Temple, Robert; Unger, Ellis F
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. © 2015 American Heart Association, Inc.
Manworren, Renee C B
In the soon-to-be-released clinical practice guidelines from the American Pain Society, multimodal analgesia is recommended for pain management after all surgical procedures. Multimodal analgesia is a surgery-specific population-based approach to optimize pain relief by treating pain through multiple mechanisms along multiple sites of the nociceptive pathway. The reliance on multiple medications and therapies inherent to the multimodal approach also may address individual patient differences in analgesic pharmacogenetics (ie, the influence of allelic differences in single genes and the associated variability in specific medication responses). Perioperative nurses may see a shift from surgery-specific population-based multimodal analgesic protocols to a personalized medicine approach as knowledge of the genetic influences of analgesic metabolism and pain sensitivity is translated into clinical practice. Personalized medicine is proposed as an individualized pain management treatment plan that eventually may be based on each patient's genetic coding for metabolism of analgesics and pain sensitivity. Copyright © 2015 AORN, Inc. Published by Elsevier Inc. All rights reserved.
Hutchison, Kent E
Current pharmacological and psychosocial approaches to the treatment of alcohol dependence may best be described as modestly effective, and it is unlikely that a magic bullet for the treatment of any substance use disorder will ever be developed. Rather, it seems more likely that there will be a number of treatment options, each of which will target different mechanisms. Thus, future treatment gains are likely to depend on the ability to match individuals with the treatment most likely to benefit them, which in turn is contingent on our ability to understand the mechanisms that drive the maintenance of substance use disorders on an individual level. On a more global scale, this type of effort has been described as "personalized medicine" and has focused largely on the human genome as a source of information that can be used to match individuals to treatments. This review enumerates barriers to realizing the potential of personalized medicine for substance use disorders and identifies opportunities to overcome those barriers, which involve the development of translational approaches that focus on the development of brain-based phenotypes that serve as the target of both treatment development and of genetic research.
Bissonnette, Luc; Bergeron, Michel G
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.
Bissonnette, Luc; Bergeron, Michel G.
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
Naylor, Stephen; Chen, Jake Y
We are all perplexed that current medical practice often appears maladroit in curing our individual illnesses or disease. However, as is often the case, a lack of understanding, tools and technologies are the root cause of such situations. Human individuality is an often-quoted term but, in the context of human biology, it is poorly understood. This is compounded when there is a need to consider the variability of human populations. In the case of the former, it is possible to quantify human complexity as determined by the 35,000 genes of the human genome, the 1–10 million proteins (including antibodies) and the 2000–3000 metabolites of the human metabolome. Human variability is much more difficult to assess, since many of the variables, such as the definition of race, are not even clearly agreed on. In order to accommodate human complexity, variability and its influence on health and disease, it is necessary to undertake a systematic approach. In the past decade, the emergence of analytical platforms and bioinformatics tools has led to the development of systems biology. Such an approach offers enormous potential in defining key pathways and networks involved in optimal human health, as well as disease onset, progression and treatment. The tools and technologies now available in systems biology analyses offer exciting opportunities to exploit the emerging areas of personalized medicine. In this article, we discuss the current status of human complexity, and how systems biology and personalized medicine can impact at the individual and population level. PMID:20577569
Jürgensmeier, Juliane M.; Eder, Joseph P.; Herbst, Roy S.
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
Bouchelouche, Kirsten; Choyke, Peter L.
Purpose of review Increasing attention is being given to personalized medicine in oncology, where therapies are tailored to the particular characteristics of the individual cancer patient. In recent years, there has been greater focus on PSMA in prostate cancer (PCa) as a target for imaging and therapy with radionuclides. This review highlights the recent advancements in PSMA PET in PCa during the past year. Recent findings Several reports on PSMA PET/CT in PCa patients are demonstrating promising results, especially for detection of biochemical recurrence. 18F-PSMA PET/CT may be superior to 68Ga-PSMA PET/CT. The detection rate of PSMA PET is influenced by PSA level. PSMA PET/CT may have a higher detection rate than choline PET/CT. Only a few reports have been published on PSMA PET/MRI, and this modality remains to be elucidated further. Conclusion Molecular imaging with PSMA PET is paving the way for personalized medicine in PCa. However, large prospective clinical studies are needed to further evaluate the role of PSMA PET/CT and PET/MRI in the clinical workflow of PCa. PSMA is an excellent target for imaging and therapy with radionuclides, and the “image and treat” strategy has the potential to become a milestone in the management of PCa patients. PMID:26967720
Breast cancer is a heterogeneous disease that encompasses a wide range of clinical behaviors and histological and molecular variants. It is the most common type of cancer affecting women worldwide and is the second leading cause of cancer death. A comprehensive literature search was performed to explore the advances in molecular medicine related to the diagnosis and treatment of breast cancer. During the last few decades, advances in molecular medicine have changed the landscape of cancer treatment as new molecular tests complement and, in many instances, exceed traditional methods for determining patient prognosis and response to treatment options. Personalized medicine is becoming the standard of care around the world. Developments in molecular profiling, genomic analysis, and the discovery of targeted drug therapies have significantly improved patient survival rates and quality of life. This review highlights what pathologists need to know about current molecular tests for classification and prognostic/ predictive assessment of breast carcinoma as well as their role as part of the medical team.
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
O'Donnell, John C
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
Gu, Jiang; Taylor, Clive R.; Phil, D
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
Gu, Jiang; Taylor, Clive R
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.
Snethen, Gretchen; Bilger, Andrea; Maula, Erme C; Salzer, Mark S
Self-directed care (SDC) offers flexibility in and control over mental health services. This study examined the types of goods and services that individuals with serious mental illness request in an SDC intervention. Data were from a randomized controlled trial that enrolled adult participants receiving Medicaid-reimbursed services, with two years of expenditures at the 50%-90% level of all Medicaid enrollees in the county and no hospitalizations within six months of the study. Data were analyzed for 60 participants randomly assigned to an SDC intervention, who were allowed to make requests for and purchase nontraditional goods and services through a noncapitated fund. Requests were coded by using the section on activities and participation of the World Health Organization's International Classification of Function, Disability, and Health (ICF) model. Descriptive statistics are presented for the categories of requests made by participants. The 60 participants made a total of 507 requests, representing 621 ICF codes. Requests ranged from 0 to 37 requests per person, with a mean of 8.45 requests. The average time to first request was 95.5 days. Most codes were in the area of self-care (19%) and general tasks and demands (19%). Among the 52 participants who made requests, the mean was 11.94 requests, which addressed an average of 5.60 unique needs. Individuals with serious mental illness identified personal-medicine strategies to address needs that are currently unmet by traditional mental health services. Self-directed care may be a service delivery option that allows consumers to access their own personal medicine and better address their needs.
Xiao, Wenming; Wu, Leihong; Yavas, Gokhan; Simonyan, Vahan; Ning, Baitang; Hong, Huixiao
-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
Bennett, Catherine W.; Berchem, Guy; Kim, Yeoun Jin; El-Khoury, Victoria
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
Barrington, Sally F; Johnson, Peter W M
PET/CT using (18)F-FDG is an essential part of the management of patients with lymphoma. Efforts to standardize PET acquisition and reporting, including the 5-point Deauville scale, have enabled PET to become a surrogate for treatment success or failure in common lymphoma subtypes. This review summarizes the key clinical-trial evidence that supports PET-directed personalized approaches in lymphoma. PET-guided therapy has improved outcomes in Hodgkin lymphoma, using less chemotherapy and more selective radiotherapy. Attempts to intensify chemotherapy in aggressive non-Hodgkin lymphomas have, however, proved ineffective in patients treated with rituximab and chemotherapy. Trials are under way to determine whether PET can obviate consolidation radiotherapy in patients with diffuse large B-cell lymphoma and primary mediastinal B-cell lymphoma. More recently, PET has been reported to be a reliable predictor of outcome in follicular lymphoma requiring treatment, and prospective trials to test PET-guided therapy in this disease are anticipated. © 2017 by the Society of Nuclear Medicine and Molecular Imaging.
Shafiee-Kandjani, Ali Reza; Amiri, Shahrokh; Arfaie, Asghar; Ahmadi, Azadeh; Farvareshi, Mahmoud
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
Shafiee-Kandjani, Ali Reza; Amiri, Shahrokh; Arfaie, Asghar; Ahmadi, Azadeh; Farvareshi, Mahmoud
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.
Özdemir, Vural; Dove, Edward S; Gürsoy, Ulvi K; Şardaş, Semra; Yıldırım, Arif; Yılmaz, Şenay Görücü; Ömer Barlas, I; Güngör, Kıvanç; Mete, Alper; Srivastava, Sanjeeva
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.
LaChance, Avery; Murphy, Michael J
The clinical use of molecular diagnostics, genomics, and personalized medicine is increasing and improving rapidly over time. However, medical education incorporating the practical application of these techniques is lagging behind. Although instruction in these areas should be expanded upon and improved at all levels of training, residency provides a concentrated period of time in which to hone in on skills that are practically applicable to a trainee's specialty of choice. Although residencies in some fields, such as pathology, have begun to incorporate practical molecular diagnostics training, this area remains a relative gap in dermatology residency programs. Herein, we advocate for the incorporation of training in molecular diagnostics and personalized medicine into dermatology residency programs and propose a basic curriculum template for how to begin approaching these topics. By incorporating molecular diagnostics into dermatology residency training, dermatologists have the opportunity to lead the way and actively shape the specialty's transition into the era of personalized medicine. © 2014 The International Society of Dermatology.
Imbeau, Dominique; Bouchard, Sébastien; Terradas, Miguel M; Simard, Valérie
Several studies suggest that health professionals show negative attitudes towards people with Borderline Personality Disorder (BPD). Many publications have focused on the attitudes of nurses or other type of clinicians like social workers or psychologists. Few researches concern the attitudes of general physicians towards BPD even if they are the main professionals involved in the evaluation and treatment of these patients. Additionally, patients with BPD frequently consult general physicians and, because of the difficulties interacting with these patients, they do not always receive the treatments required by their condition. This research aims to assess the attitudes of general physicians and family medicine residents regarding patients presenting with this disorder. Forty family medicine residents and thirty-five general physicians were compared to thirty-nine mental health professionals using the Attitudes toward people with BPD Scale (ABPDS; Bouchard, 2001). This measure has two subscales labeled Comfort when interacting with someone who has BPD and Positives perceptions about BPD. The internal consistency of the scale as well as the two distinct factors are satisfactory. The participants also complete a socio-demographic questionnaire. Means, t tests, ANOVAs and factorial ANOVAs are completed in order to compare the three groups on the ABPDS and explore the influence of variables such as sex, age, years of experience, and professional setting (urban or rural) on the results. The results show that general physicians have similar attitudes than mental health professionals towards people presenting with BPD and that family medicine residents present less positive attitude than the other two groups. In addition, clinicians with less experience tend to have less positive attitudes towards people with BPD and clinicians from urban settings seem to have more positive attitude. It was difficult to determinate which variables influence the results because the years of
Meslin, Eric M.; Cho, Mildred K.
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
Koelsch, Christof; Przewrocka, Joanna; Keeling, Peter
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.
Clark, Peter M; Ebiana, Victoria A; Gosa, Laura; Cloughesy, Timothy F; Nathanson, David A
Comprehensive molecular analysis of individual tumors provides great potential for personalized cancer therapy. However, the presence of a particular genetic alteration is often insufficient to predict therapeutic efficacy. Drugs with distinct mechanisms of action can affect the biology of tumors in specific and unique ways. Therefore, assays that can measure drug-induced perturbations of defined functional tumor properties can be highly complementary to genomic analysis. PET provides the capacity to noninvasively measure the dynamics of various tumor biologic processes in vivo. Here, we review the underlying biochemical and biologic basis for a variety of PET tracers and how they may be used to better optimize cancer therapy. © 2017 by the Society of Nuclear Medicine and Molecular Imaging.
Kurup, Harikrishnan K N; Samuel, Bennett P; Vettukattil, Joseph J
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.
Cabrera, M; Jaber, M; Dugas, V; Broutin, J; Vnuk, E; Cloarec, J P; Souteyrand, E; Martin, J R
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.
Gunter, Lacey; Zhu, Ji; Murphy, Susan
For many years, subset analysis has been a popular topic for the biostatistics and clinical trials literature. In more recent years, the discussion has focused on finding subsets of genomes which play a role in the effect of treatment, often referred to as stratified or personalized medicine. Though highly sought after, methods for detecting subsets with altering treatment effects are limited and lacking in power. In this article we discuss variable selection for qualitative interactions with the aim to discover these critical patient subsets. We propose a new technique designed specifically to find these interaction variables among a large set of variables while still controlling for the number of false discoveries. We compare this new method against standard qualitative interaction tests using simulations and give an example of its use on data from a randomized controlled trial for the treatment of depression. PMID:22023676
Kessler, David; Ng, Lorraine; Tessaro, Mark; Fischer, Jason
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.
Boland, Mary Regina; Hripcsak, George; Shen, Yufeng; Chung, Wendy K; Weng, Chunhua
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.
Schweiger, Michal-Ruth; Barmeyer, Christian; Timmermann, Bernd
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.
Gross, Eric R.; Zambelli, Vanessa O.; Small, Bryce A.; Ferreira, Julio C.B.; Chen, Che-Hong; Mochly-Rosen, Daria
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
Nagarajan, Radhakrishnan; Kodell, Ralph L
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.
Ogilvie, Lesley A.; Wierling, Christoph; Kessler, Thomas; Lehrach, Hans; Lange, Bodo M. H.
Despite a growing body of knowledge on the mechanisms underlying the onset and progression of cancer, treatment success rates in oncology are at best modest. Current approaches use statistical methods that fail to embrace the inherent and expansive complexity of the tumor/patient/drug interaction. Computational modeling, in particular mechanistic modeling, has the power to resolve this complexity. Using fundamental knowledge on the interactions occurring between the components of a complex biological system, large-scale in silico models with predictive capabilities can be generated. Here, we describe how mechanistic virtual patient models, based on systematic molecular characterization of patients and their diseases, have the potential to shift the theranostic paradigm for oncology, both in the fields of personalized medicine and targeted drug development. In particular, we highlight the mechanistic modeling platform ModCell™ for individualized prediction of patient responses to treatment, emphasizing modeling techniques and avenues of application. PMID:26692759
Garattini, Livio; Curto, Alessandro; Freemantle, Nick
The clinical definition of personalized medicine (PM) is closely related to that of pharmacogenomics. Ideally, PM could lead the pharmaceutical industry to differentiate products by subgroups of patients with the same pathology and find new gene targets for drug discovery. Here, we focus on the potential impact of PM on the design of clinical trials and economic evaluations limited to oncology (its first and main field of application). Then, we assess the European economic evaluations focused on trastuzumab and cetuximab, the two drugs usually mentioned as emblematic examples of targeted therapies. Clinical results of PM in oncology have not been as encouraging as hoped so far. Of course, economic evaluations on targeted therapies cannot help overcome the lack of clinical evidence for most of them. The two paradigmatic examples of cetuximab and trastuzumab indicate that the methodological implications on economic evaluations debated in the literature are more theoretical than practical.
Gerretsen, Philip; Müller, Daniel J.; Tiwari, Arun; Mamo, David; Pollock, Bruce G.
We currently rely on large randomized trials and meta-analyses to make clinical decisions; this places us at a risk of discarding subgroup or individually specific treatment options owing to their failure to prove efficacious across entire populations. There is a new era emerging in personalized medicine that will focus on individual differences that are not evident phenomenologically. Much research is directed towards identifying genes, endophenotypes, and biomarkers of disease that will facilitate diagnosis and predict treatment outcome. We are at the threshold of being able to predict treatment response, primarily through genetics and neuroimaging. In this review we discuss the most promising markers of treatment response and adverse effects emerging from the areas of pharmacogenetics and neuroimaging in depression and schizophrenia. PMID:20135894
McDonald, Sandra A.; Watson, Mark A.; Rossi, Joan; Becker, Colleen M.; Jaques, David P.; Pfeifer, John D.
Banking of high-quality, appropriately consented human tissue is crucial for the understanding of disease pathogenesis and translation of such knowledge into improvements in patient care. Traditionally, tissue banking has been thought of as primarily an academic research activity, but tissue and biospecimen banking is increasingly assuming clinical importance, especially with the advent of genetic and proteomic testing approaches that rely on fresh or fresh frozen tissue. These approaches are part of the revolution in personalized medicine. This revolution’s impact on biorepositories—their mission and day-to-day function—will be profound. Direct patient care will require structuring tissue procurement to become a routine part of patient care. Accordingly tissue banking will expand from its traditional research role in large academic medical centers into the everyday practice of surgical pathology. Successful implementation of this model will require consideration of several financial, medicolegal, and administrative issues. PMID:22031304
Boland, Mary Regina; Hripcsak, George; Shen, Yufeng; Chung, Wendy K; Weng, Chunhua
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. PMID:24001516
Picher-Martel, Vincent; Valdmanis, Paul N; Gould, Peter V; Julien, Jean-Pierre; Dupré, Nicolas
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.
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
Murphy, Michael J; Shahriari, Neda; Payette, Michael; Mnayer, Laila; Elaba, Zendee
Results of molecular studies are redefining the diagnosis and management of a wide range of skin disorders. Dermatology training programs maintain a relative gap in relevant teaching. To develop a curriculum in molecular diagnostics, genomics and personalized medicine for dermatology trainees at our institution. The aim is to provide trainees with a specialty-appropriate, working knowledge in clinical molecular dermatology. The Departments of Dermatology and Pathology and Laboratory Medicine collaborated on the design and implementation of educational objectives and teaching modalities for the new curriculum. A multidisciplinary curriculum was developed. It comprises: (i) assigned reading from the medical literature and reference textbook; (ii) review of teaching sets; (iii) two 1 hour lectures; (iv) trainee presentations; (v) 1-week rotation in a clinical molecular pathology and cytogenetics laboratory; and (vi) assessments and feedback. Residents who participated in the curriculum to date have found the experience to be of value. Our curriculum provides a framework for other dermatology residency programs to develop their own specific approach to molecular diagnostics education. Such training will provide a foundation for lifelong learning as molecular testing evolves and becomes integral to the practice of dermatology. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Syme, Rachel; Carleton, Bruce; Leyens, Lada; Richer, Etienne
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.
Elele, Ezinwa; Shen, Yueyang; Boppana, Rajyalakshmi; Afolabi, Afolawemi; Bilgili, Ecevit A.; Khusid, Boris
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.
Hanna, Matthew G; Pantanowitz, Liron
The practice of cytopathology has dramatically changed due to advances in genomics and information technology. Cytology laboratories have accordingly become increasingly dependent on pathology informatics support to meet the emerging demands of precision medicine. Pathology informatics deals with information technology in the laboratory, and the impact of this technology on workflow processes and staff who interact with these tools. This article covers the critical role that laboratory information systems, electronic medical records, and digital imaging plays in patient-centered personalized medicine. The value of integrated diagnostic reports, clinical decision support, and the use of whole-slide imaging to better evaluate cytology samples destined for molecular testing is discussed. Image analysis that offers more precise and quantitative measurements in cytology is addressed, as well as the role of bioinformatics tools to cope with Big Data from next-generation sequencing. This article also highlights the barriers to the widespread adoption of these disruptive technologies due to regulatory obstacles, limited commercial solutions, poor interoperability, and lack of standardization. Cancer Cytopathol 2017;125(6 suppl):494-501. © 2017 American Cancer Society. © 2017 American Cancer Society.
Becquemont, Laurent; Bordet, Régis; Cellier, Dominic
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.
Birarra, Mequanent Kassa
Background Herbal medicine use is increasing and the global market is estimated to be US$107 billion by the year 2017. Objectives This study aimed at assessing community pharmacists' personal use, knowledge, attitude, dispensing practice, and the barriers regarding herbal medicines. Methods Institution based cross-sectional study was conducted among 47 community pharmacists in Gondar, Northwest Ethiopia, using a structured interviewing questionnaire. Results Nearly half of the respondents (n = 22, 46.8%) sometimes use herbal medicines. Although knowledge related to such preparations was self-rated as poor/acceptable (n = 34, 72.4%), majority (n = 44, 93.7%) of community pharmacists agree/strongly agree that herbal medicines have beneficial effects. Only 6 (12.7%) of them are sometimes/often engaged in dispensing herbal medicines and most of them (n = 34, 72.3%) rarely/never counseled clients regarding these preparations. Limited knowledge on and access to information regarding herbal medicines are the main barriers to the pharmacists' practice. Conclusion Although community pharmacists in Gondar, Northwest Ethiopia, commonly use and demonstrated good attitude towards herbal medicines, they are less involved in dispensing such products. They are also challenged with limited knowledge on and access to herbal medicine information. Thus, pharmacy educators, professional organizations, and the government shall pay more attention to solve the problem. Regulatory provisions on herbal medicine dispensing must be enacted and communicated very well. PMID:28904558
Wiley, Laura K; Tarczy-Hornoch, Peter; Denny, Joshua C; Freimuth, Robert R; Overby, Casey L; Shah, Nigam; Martin, Ross D; Sarkar, Indra Neil
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.
Engelmann, L; Kunig, S; Kunig, H
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.
Zema, Lucia; Melocchi, Alice; Maroni, Alessandra; Gazzaniga, Andrea
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.
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.
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
Zaiou, M; El Amri, H
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.
Schiavone, Stefania; Neri, Margherita; Pomara, Cristoforo; Riezzo, Irene; Trabace, Luigia; Turillazzi, Emanuela
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., informe