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Sample records for enabling personalized medicine

  1. Customized care 2020: how medical sequencing and network biology will enable personalized medicine

    PubMed Central

    Arnaout, Ramy; Hill, Colin

    2009-01-01

    Applications of next-generation nucleic acid sequencing technologies will lead to the development of precision diagnostics that will, in turn, be a major technology enabler of precision medicine. Terabyte-scale, multidimensional data sets derived using these technologies will be used to reverse engineer the specific disease networks that underlie individual patients’ conditions. Modeling and simulation of these networks in the presence of virtual drugs, and combinations of drugs, will identify the most efficacious therapy for precision medicine and customized care. In coming years the practice of medicine will routinely employ network biology analytics supported by high-performance supercomputing. PMID:20948615

  2. Preparing the personal physician for practice: changing family medicine residency training to enable new model practice.

    PubMed

    Green, Larry A; Jones, Samuel M; Fetter, Gerald; Pugno, Perry A

    2007-12-01

    After two years of intensive study, in 2004 the Future of Family Medicine report concluded that the current U.S. health care system is inadequate and unsustainable, and called for changes within the specialty of family medicine to ensure the future health of the American public. With guidance and encouragement from many disciplines and health experts, a set of 10 recommendations was established to accomplish a transformative change in how family physicians serve their patients and how the essential function of primary care is achieved. From these recommendations came a period of innovation and experimentation in the training of family physicians, entitled Preparing the Personal Physician for Practice (P4). The P4 project is a carefully designed and evaluated initiative led by the American Board of Family Medicine and the Association of Family Medicine Residency Directors and administered by TransforMED, a practice redesign initiative of the American Academy of Family Physicians. Fourteen family medicine programs were chosen to participate and will put their innovations into practice from 2007 to 2012, during which time regular evaluation will be conducted. The purpose of P4 is to learn how to improve the graduate medical education of family physicians such that they are prepared to be outstanding personal physicians and to work in the new models of practice now emerging. The innovations tested by P4 residencies are expected to inspire substantial changes in the content, structure, and locations of training of family physicians and to guide future revisions in accreditation and certification requirements. PMID:18046133

  3. Pharmacogenomic characterization of gemcitabine response – a framework for data integration to enable personalized medicine

    PubMed Central

    Harris, Michael; Bhuvaneshwar, Krithika; Natarajan, Thanemozhi; Sheahan, Laura; Wang, Difei; Tadesse, Mahlet G.; Shoulson, Ira; Filice, Ross; Steadman, Kenneth; Pishvaian, Michael J.; Deeken, John

    2014-01-01

    Objectives Response to the oncology drug gemcitabine may be variable in part due to genetic differences in the enzymes and transporters responsible for its metabolism and disposition. The aim of our in-silico study was to identify gene variants significantly associated with gemcitabine response that may help to personalize treatment in the clinic. Methods We analyzed two independent data sets: (a) genotype data from NCI-60 cell lines using the Affymetrix DMET 1.0 platform combined with gemcitabine cytotoxicity data in those cell lines, and (b) genome-wide association studies (GWAS) data from 351 pancreatic cancer patients treated on an NCI-sponsored phase III clinical trial. We also performed a subset analysis on the GWAS data set for 135 patients who were given gemcitabine+placebo. Statistical and systems biology analyses were performed on each individual data set to identify biomarkers significantly associated with gemcitabine response. Results Genetic variants in the ABC transporters (ABCC1, ABCC4) and the CYP4 family members CYP4F8 and CYP4F12, CHST3, and PPARD were found to be significant in both the NCI-60 and GWAS data sets. We report significant association between drug response and variants within members of the chondroitin sulfotransferase family (CHST) whose role in gemcitabine response is yet to be delineated. Conclusion Biomarkers identified in this integrative analysis may contribute insights into gemcitabine response variability. As genotype data become more readily available, similar studies can be conducted to gain insights into drug response mechanisms and to facilitate clinical trial design and regulatory reviews. PMID:24401833

  4. Immunoinformatics in personalized medicine.

    PubMed

    Gulukota, Kamalakar

    2003-01-01

    Diagnosis of human disease has been undergoing steady improvement over the past few centuries. Many ailments that were once considered a single entity have been classified into finer categories on the basis of response to therapy (e.g. type I and type II diabetes), inheritance (e.g. familial and non-familial polyposis coli), histology (e.g. small cell and adenocarcinoma of lung) and most recently transcriptional profiling (e.g. leukaemia, lymphoma). The next dimension in this finer categorization appears to be the typing of the patient rather than the disease i.e. disease X in person of type Y. The problem of personalized medicine is to devise tests which predict the type of individual, especially where the type is correlated with response to therapy. Immunology has been at the forefront of personalized medicine for quite a while, even though the term is not often used in this connection. Blood grouping and cross-matching (for blood transfusion), and anaphylaxis test (for penicillin) are just two examples. In this paper I will argue that immunological tests have an important place in the future of personalized medicine. I will describe methods we developed for personalizing vaccines based on MHC allele frequencies in human populations and methods for predicting peptide binding to class I MHC molecules. In conclusion, I will argue that immunological tests, and consequently immunoinformatics, will play a big role in making personalized medicine a reality. PMID:14712931

  5. Pharmacogenetics: implementing personalized medicine.

    PubMed

    Mini, Enrico; Nobili, Stefania

    2009-01-01

    approach has helped unravel genetic variants that influence clinical drug responsiveness, gene-wide association studies have recently gained attention as they enable to associate specific genetic variants or quantitative differences in gene expression with drug response.Although research findings are accumulating, most of the potential of pharmacogenetics and pharmacogenomics remains to be explored and must be validated in prospective randomized clinical trials.The genetic and molecular foundations of personalized medicine appear solid and evidence indicates its growing importance in healthcare. PMID:22461093

  6. Pharmacogenomics and Nanotechnology Toward Advancing Personalized Medicine

    NASA Astrophysics Data System (ADS)

    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.

  7. Personalized medicine and ethics.

    PubMed

    Josko, Deborah

    2014-01-01

    An entire series could be dedicated to the topic of ethics in personalized medicine. Due to the advancements in NGS and genetic testing, personalized medicine is no longer something that will occur in the future, the reality is upon us now. Sequencing an individual's genome can have a substantial impact on the patient's treatment and overall quality of life. However, this can open "Pandora's box" especially if an individual does not want to know the information obtained. In addition, will insurance companies require genetic testing in order to pay for a targeted treatment? If the patient refuses to have the genetic testing, will they have to pay for their treatment out of pocket? In the human interest story presented, the researcher and his team discovered over activity of the FTL3 protein through RNA sequencing which resulted in rapid proliferation of his leukemic cells. He identified a drug marketed for advanced kidney cancer which was a FTL3 inhibitor. However, his insurance company refused to pay for the drug because it was not a known treatment for his condition of ALL. He incurred numerous out of pocket expenses in order to go into remission. Was it unethical for the insurance company to not pay for a treatment that ultimately worked but was not marketed or FDA cleared for his type of leukemia? There are so many questions and concerns when personalized medicine is implemented. Only time will tell the effects next generation sequencing and its role in personalized medicine will have in the future. PMID:25219077

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

    PubMed

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

    2016-04-01

    For psychiatric disorders, repeated failures in converting scientific discoveries into novel drugs has precipitated a crisis and eroded confidence in drug discovery. This review describes how current and future innovations driven by application of biomarkers can help to re-initiate research in this area. This will have positive impact on the field of psychiatry and result in application of sensitive and specific biochemical tests in parallel with the traditional questionnaires for improved diagnosis. Furthermore, application of emerging biosensor tools will facilitate point-of-care testing by fusion of biochemical and clinical data. In this way, patient data will be comprised of past medical histories, biopatterns and prognosis information, resulting in personalized profiles or molecular fingerprints for patients with these conditions. PMID:26999493

  9. Roadmap to personalized medicine.

    PubMed

    Qattan, Malak; Demonacos, Constantinos; Krstic-Demonacos, Marija

    2012-08-01

    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. PMID:22911518

  10. Balancing personalized medicine and personalized care.

    PubMed

    Cornetta, Kenneth; Brown, Candy Gunther

    2013-03-01

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

  11. Fundamentals of Pharmacogenetics in Personalized, Precision Medicine.

    PubMed

    Valdes, Roland; Yin, DeLu Tyler

    2016-09-01

    This article introduces fundamental principles of pharmacogenetics as applied to personalized and precision medicine. Pharmacogenetics establishes relationships between pharmacology and genetics by connecting phenotypes and genotypes in predicting the response of therapeutics in individual patients. We describe differences between precision and personalized medicine and relate principles of pharmacokinetics and pharmacodynamics to applications in laboratory medicine. We also review basic principles of pharmacogenetics, including its evolution, how it enables the practice of personalized therapeutics, and the role of the clinical laboratory. These fundamentals are a segue for understanding specific clinical applications of pharmacogenetics described in subsequent articles in this issue. PMID:27514461

  12. Personalized Medicine for Gliomas

    PubMed Central

    Ene, Chibawanye I.; Holland, Eric C.

    2015-01-01

    Personalized medicine for cancer entails tailoring therapy for each patient based on unique features of the patient's tumor; physiologic, molecular, genetic and epigenetic. Our ability to molecularly characterize tumor cells has increased dramatically and shown that there are significant differences between samples from patients with the same tumor type. Given this extensive variability in mutations and pathways driving tumors in patients, seeking a single bullet is an unrealistic approach for achieving a cure. In glioblastoma multiforme (GBM), the most common adult brain tumor, this inter-tumoral heterogeneity is further complicated by intra-tumoral heterogeneity within the tumor. This suggests that for personalized therapy to work for GBMs, pharmacologic agents would not only be tailored to target the differences from patient to patient but also the clonal diversity within each patient's tumor. In this review, we provide a historical perspective on clinical trials for cancer. We also discuss the current state of molecular biology and immunology based strategies for personalized therapies for glioblastoma multiforme. PMID:25722938

  13. Personalized Medicine in Cardiovascular Diseases

    PubMed Central

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

    2012-01-01

    Personalized medicine is a novel medical model with all decisions and practices being tailored to individual patients in whatever ways possible. In the era of genomics, personalized medicine combines the genetic information for additional benefit in preventive and therapeutic strategies. Personalized medicine may allow the physician to provide a better therapy for patients in terms of efficiency, safety and treatment length to reduce the associated costs. There was a remarkable growth in scientific publication on personalized medicine within the past few years in the cardiovascular field. However, so far, only very few cardiologists in the USA are incorporating personalized medicine into clinical treatment. We review the concepts, strengths, limitations and challenges of personalized medicine with a particular focus on cardiovascular diseases (CVDs). There are many challenges from both scientific and policy perspectives to personalized medicine, which can overcome them by comprehensive concept and understanding, clinical application, and evidence based practices. Individualized medicine serves a pivotal role in the evolution of national and global healthcare reform, especially, in the CVDs fields. Ultimately, personalized medicine will affect the entire landscape of health care system in the near future. PMID:23091501

  14. Perspective: Balancing Personalized Medicine and Personalized Care

    PubMed Central

    Cornetta, Kenneth; Brown, Candy Gunther

    2013-01-01

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

  15. [Personalized medicine in rheumatology].

    PubMed

    Szekanecz, Zoltán

    2013-03-31

    In rheumatology, especially in arthritides, early diagnosis and aggressive therapy may open up new dimensions of expectations, such as improvement of pain, prevention of structural, functional damage and better quality of life. Targeted (biological) therapy has brought new horizons in rheumatology. As it is a rather expensive treatment modality, it has been urgent to develop tools suitable for the prediction of therapeutic responses. Several clinical, immunological and genetic biomarkers have been established for this purpose. Among clinical markers, male sex, younger age, lower or even higher disease activity at baseline, combination treatment and quitting smoking may lead to better treatment outcome. Immunological biomarkers, such as C-reactive protein, seropositivity, peripheral blood or synovial cellular content have been associated with therapeutic responses. Finally, numerous genes or gene signatures may also predict the efficacy or safety of immunosuppressive drugs. Although sometimes there have been only few studies conducted that led to some controversy, some biomarkers have also been validated. This may lead us to optimism in terms of wider acceptance of personalized medicine in rheumatology. PMID:23524232

  16. Metabolomics: moving towards personalized medicine

    PubMed Central

    Baraldi, Eugenio; Carraro, Silvia; Giordano, Giuseppe; Reniero, Fabiano; Perilongo, Giorgio; Zacchello, Franco

    2009-01-01

    In many fields of medicine there is a growing interest in characterizing diseases at molecular level with a view to developing an individually tailored therapeutic approach. Metabolomics is a novel area that promises to contribute significantly to the characterization of various disease phenotypes and to the identification of personal metabolic features that can predict response to therapies. Based on analytical platforms such as mass spectrometry or NMR-based spectroscopy, the metabolomic approach enables a comprehensive overview of the metabolites, leading to the characterization of the metabolic fingerprint of a given sample. These metabolic fingerprints can then be used to distinguish between different disease phenotypes and to predict a drug's effectiveness and/or toxicity. Several studies published in the last few years applied the metabolomic approach in the field of pediatric medicine. Being a highly informative technique that can be used on samples collected non-invasively (e.g. urine or exhaled breath condensate), metabolomics has appeal for the study of pediatric diseases. Here we present and discuss the pediatric clinical studies that have taken the metabolomic approach. PMID:19852788

  17. Toward Exercise as Personalized Medicine

    PubMed Central

    Roberts, Michael D.; Church, Timothy S.

    2013-01-01

    The early 21st century has witnessed a steady push by scientists, industry leaders, and government officials to make medicine more personalized. To date, the concept of personalized medicine has referred largely to the field of pharmacogenomics. In contrast, relatively few data exist regarding the application of preventive strategies such as physical exercise in the context of personalized medicine. Within this review, we highlight the extant literature and propose five strategies for scientists that may propel the exercise and sports science fields toward this global goal. Notably, these approaches are in addition to methods to maintain adherence to training – a well-known factor in determining exercise responsiveness. Briefly, these strategies include (1) evaluating participant responses to training at the individual as well as group level; (2) identifying sources of variability in responsiveness to training; (3) optimizing exercise dosing strategies to maximize benefits while minimizing barriers to participation; (4) evaluating the efficacy of multimodal interventions for relevant population subgroups; and (5) increasing the clinical relevance of study populations and outcomes in exercise trials. We look forward to seeing these strategies considered in trials of preventive health interventions such as exercise. Extensive future research in this area is needed for the vision of exercise as a personalized form of medicine to become a reality. PMID:23382011

  18. Essential Elements of Personalized Medicine

    PubMed Central

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

    2014-01-01

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

  19. Systems approaches to biology and disease enable translational systems medicine.

    PubMed

    Hood, Leroy; Tian, Qiang

    2012-08-01

    The development and application of systems strategies to biology and disease are transforming medical research and clinical practice in an unprecedented rate. In the foreseeable future, clinicians, medical researchers, and ultimately the consumers and patients will be increasingly equipped with a deluge of personal health information, e.g., whole genome sequences, molecular profiling of diseased tissues, and periodic multi-analyte blood testing of biomarker panels for disease and wellness. The convergence of these practices will enable accurate prediction of disease susceptibility and early diagnosis for actionable preventive schema and personalized treatment regimes tailored to each individual. It will also entail proactive participation from all major stakeholders in the health care system. We are at the dawn of predictive, preventive, personalized, and participatory (P4) medicine, the fully implementation of which requires marrying basic and clinical researches through advanced systems thinking and the employment of high-throughput technologies in genomics, proteomics, nanofluidics, single-cell analysis, and computation strategies in a highly-orchestrated discipline we termed translational systems medicine. PMID:23084773

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

    PubMed

    Jain, Kewal K

    2016-01-01

    Advances in proteomic technologies have made import contribution to the development of personalized medicine by facilitating detection of protein biomarkers, proteomics-based molecular diagnostics, as well as protein biochips and pharmacoproteomics. Application of nanobiotechnology in proteomics, nanoproteomics, has further enhanced applications in personalized medicine. Proteomics-based molecular diagnostics will have an important role in the diagnosis of certain conditions and understanding the pathomechanism of disease. Proteomics will be a good bridge between diagnostics and therapeutics; the integration of these will be important for advancing personalized medicine. Use of proteomic biomarkers and combination of pharmacoproteomics with pharmacogenomics will enable stratification of clinical trials and improve monitoring of patients for development of personalized therapies. Proteomics is an important component of several interacting technologies used for development of personalized medicine, which is depicted graphically. Finally, cancer is a good example of applications of proteomic technologies for personalized management of cancer. PMID:26827601

  1. Personal genomes, quantitative dynamic omics and personalized medicine

    PubMed Central

    Mias, George I.; Snyder, Michael

    2015-01-01

    The rapid technological developments following the Human Genome Project have made possible the availability of personalized genomes. As the focus now shifts from characterizing genomes to making personalized disease associations, in combination with the availability of other omics technologies, the next big push will be not only to obtain a personalized genome, but to quantitatively follow other omics. This will include transcriptomes, proteomes, metabolomes, antibodyomes, and new emerging technologies, enabling the profiling of thousands of molecular components in individuals. Furthermore, omics profiling performed longitudinally can probe the temporal patterns associated with both molecular changes and associated physiological health and disease states. Such data necessitates the development of computational methodology to not only handle and descriptively assess such data, but also construct quantitative biological models. Here we describe the availability of personal genomes and developing omics technologies that can be brought together for personalized implementations and how these novel integrated approaches may effectively provide a precise personalized medicine that focuses on not only characterization and treatment but ultimately the prevention of disease. PMID:25798291

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

    ERIC Educational Resources Information Center

    Welch, Kathleen

    2000-01-01

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

  3. Eliminating barriers to personalized medicine

    PubMed Central

    2014-01-01

    With the emergence of high-throughput discovery platforms, robust preclinical small-animal models, and efficient clinical trial pipelines, it is becoming possible to envision a time when the treatment of human neurologic diseases will become personalized. The emergence of precision medicine will require the identification of subgroups of patients most likely to respond to specific biologically based therapies. This stratification only becomes possible when the determinants that contribute to disease heterogeneity become more fully elucidated. This review discusses the defining factors that underlie disease heterogeneity relevant to the potential for individualized brain tumor (optic pathway glioma) treatments arising in the common single-gene cancer predisposition syndrome, neurofibromatosis type 1 (NF1). In this regard, NF1 is posited as a model genetic condition to establish a workable paradigm for actualizing precision therapeutics for other neurologic disorders. PMID:24975854

  4. Crowdfunding for Personalized Medicine Research

    PubMed Central

    Fumagalli, Danielle C.; Gouw, Arvin M.

    2015-01-01

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

  5. Crowdfunding for Personalized Medicine Research.

    PubMed

    Fumagalli, Danielle C; Gouw, Arvin M

    2015-12-01

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

  6. Personalized medicine in psychiatry: problems and promises

    PubMed Central

    2013-01-01

    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

  7. Personalized Genomic Medicine and the Rhetoric of Empowerment

    PubMed Central

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

    2013-01-01

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

  8. Personalized medicine for individuals with Down syndrome.

    PubMed

    McCabe, Linda L; McCabe, Edward R B

    2011-01-01

    As the cost of whole genome analysis decreases, we have the opportunity to explore the interactions of various gene changes in an individual that lead to their particular phenotype. This will provide the ability to move from the epidemiologic study of groups, in which, the individuals are treated collectively and homogenously, to personalized medicine, and a model in which the individual is recognized and treated as a distinct entity. We will be applying personalized medicine to individuals with Down syndrome in order to understand and develop biomarkers for increased risk of co-morbidities. Personalized medicine will change the "culture of intractability" of Down syndrome. PMID:21807541

  9. Is Personalized Medicine Achievable in Obstetrics?

    PubMed Central

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

    2014-01-01

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

  10. Personalized medicine approach in mycobacterial disease

    PubMed Central

    Mirsaeidi, Mehdi

    2014-01-01

    Mycobacterial diseases are a group of illnesses that cause a considerable number of deaths throughout the world, regardless of years of public health control efforts. Personalized medicine is a new but rapidly advancing field of healthcare. Personalized medicine in the field of mycobacteriology may be applied in the different levels of management such as prevention, diagnosis, treatment and prognosis. A genetic predisposition and a protein dysfunction study are recommended to tailor an individual approach in mycobacterial diseases. PMID:25126491

  11. Lifetime experiences, the brain and personalized medicine: an integrative perspective.

    PubMed

    McEwen, Bruce S; Getz, Linn

    2013-01-01

    The aim of personalized medicine is to base medical prevention and therapy on the unique health and disease susceptibility profile of each individual. Starting from this idea, we briefly discuss the meaning of the word 'personalized' before analyzing the practical content of personalized healthcare. From a medical perspective, knowledge of a person encompasses both biological and biographical perspectives. The latter includes significant events and experiences throughout the person's lifespan, from conception to the present, in which epigenetic influences play an important role. In practice, we believe personalized medicine should emphasize the development and maintenance of a healthy nervous system. The neurobiological processes involved here depend heavily on the psychosocial environment, in particular the presence of responsible, caring adults and integration in a reasonably fair society. A healthy brain subsequently promotes good health throughout life, both through direct, favorable influences on the body's intrinsic biological pathways, and indirectly by enabling the person to engage in supportive relationships, make wise decisions and take good care of him/herself. From a public health perspective, we conclude that hi-tech personalized medicine based on detailed bio-molecular mapping, monitoring and tailored drug interventions holds promise only as part of a wider, socio-culturally informed approach to the person. PMID:23009787

  12. Multifunctional Quantum Dots for Personalized Medicine

    PubMed Central

    Zrazhevskiy, Pavel; Gao, Xiaohu

    2009-01-01

    Successes in biomedical research and state-of-the-art medicine have undoubtedly improved the quality of life. However, a number of diseases, such as cancer, immunodeficiencies, and neurological disorders, still evade conventional diagnostic and therapeutic approaches. A transformation towards personalized medicine may help to combat these diseases. For this, identification of disease molecular fingerprints and their association with prognosis and targeted therapy must become available. Quantum dots (QDs), semiconductor nanocrystals with unique photo-physical properties, represent a novel class of fluorescence probes to address many of the needs of personalized medicine. This review outlines the properties of QDs that make them a suitable platform for advancing personalized medicine, examines several proof-of-concept studies showing utility of QDs for clinically relevant applications, and discusses current challenges in introducing QDs into clinical practice. PMID:20161004

  13. The Personalized Medicine Coalition: goals and strategies.

    PubMed

    Abrahams, Edward; Ginsburg, Geoffrey S; Silver, Mike

    2005-01-01

    The concept of personalized medicine--that medical care can be tailored to the genomic and molecular profile of the individual--has repercussions that extend far beyond the technology that makes it possible. The adoption of personalized medicine will require changes in healthcare infrastructure, diagnostics and therapeutics business models, reimbursement policy from government and private payers, and a different approach to regulatory oversight. Personalized medicine will shift medical practices upstream from the reactive treatment of disease, to proactive healthcare management including screening, early treatment, and prevention, and will alter the roles of both physician and patient. It will create a greater reliance on electronic medical records and decision support systems in an industry that has a long history of resistance to information technology. Personalized medicine requires a systems approach to implementation. But in a healthcare economy that is highly decentralized and market driven, it is incumbent upon the stakeholders themselves to advocate for a consistent set of policies and legislation that pave the way for the adoption of personalized medicine. To address this need, the Personalized Medicine Coalition (PMC) was formed as a nonprofit umbrella organization of pharmaceutical, biotechnology, diagnostic, and information technology companies, healthcare providers and payers, patient advocacy groups, industry policy organizations, major academic institutions, and government agencies. The PMC provides a structure for achieving consensus positions among these stakeholders on crucial public policy issues, a role which will be vital to translating personalized medicine into widespread clinical practice. In this article, we outline the goals of the PMC, and the strategies it will take to foster communication, debate, and consensus on issues such as genetic discrimination, the reimbursement structures for pharmacogenomic drugs and diagnostics, regulation

  14. Overview of personalized medicine in the disease genomic era.

    PubMed

    Hong, Kyung-Won; Oh, Bermseok

    2010-10-01

    Sir William Osler (1849-1919) recognized that "variability is the law of life, and as no two faces are the same, so no two bodies are alike, and no two individuals react alike and behave alike under the abnormal conditions we know as disease". Accordingly, the traditional methods of medicine are not always best for all patients. Over the last decade, the study of genomes and their derivatives (RNA, protein and metabolite) has rapidly advanced to the point that genomic research now serves as the basis for many medical decisions and public health initiatives. Genomic tools such as sequence variation, transcription and, more recently, personal genome sequencing enable the precise prediction and treatment of disease. At present, DNA-based risk assessment for common complex diseases, application of molecular signatures for cancer diagnosis and prognosis, genome-guided therapy, and dose selection of therapeutic drugs are the important issues in personalized medicine. In order to make personalized medicine effective, these genomic techniques must be standardized and integrated into health systems and clinical workflow. In addition, full application of personalized or genomic medicine requires dramatic changes in regulatory and reimbursement policies as well as legislative protection related to privacy. This review aims to provide a general overview of these topics in the field of personalized medicine. PMID:21034525

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

    PubMed

    Rial-Sebbag, Emmanuelle

    2014-11-01

    Personalized medicine is booming. It tends to provide a medical management "tailored" for groups of patients, or for one unique patient, but also to identify risk groups to develop public health strategies. In this context, some radicalization phenomenon can emerge, leading to not only personalized medicine but also privatized medicine, which can lead to a capture of the medical public resource. If the "privatization" of medicine is not limited to producing adverse effects, several potentially destabilizing phenomena for patients still remain. First, some objective factors, like the adjustment of scientific prerequisites, are emerging from personalized medicine practices (clinical trial, public health policy) and are interfering with the medical doctor/patient relationship. Another risk emerges for patients concomitantly to their demand for controlling their own health, in terms of patients' security although these risks are not clearly identified and not effectively communicated. These practices, related to a privatized medicine, develop within the healthcare system but also outside, and the government and legislators will have to take into account these new dimensions in drafting their future regulations and policies. PMID:25407457

  16. [PERSONALIZED MEDICINE AND EBM: ETHICAL ASPECTS].

    PubMed

    Radermecker, R P

    2015-01-01

    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. PMID:26285464

  17. [ETHICS, MORALS AND SOCIETY IN PERSONALIZED MEDICINE].

    PubMed

    Flugelman, Anath

    2015-09-01

    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. PMID:26665754

  18. The collective nature of personalized medicine.

    PubMed

    McGonigle, Ian Vincent

    2016-01-01

    Precision medicine, incorporating personalized medicine, is an emerging medical model that holds great promise for improving the prevention, diagnosis and treatment of many diseases. The future success of precision medicine, however, depends on the establishment of large databases that collate diverse data, including family genealogies, disease histories, drug sensitivities and genomic data. Herein I raise some of the social and ethical challenges that such a system faces, specifically: the enrolment of volunteers into large genetic databases; the need for a change in mindset of clinicians, patients and the wider public; and the need for interdisciplinary ethics considering the emerging issues. Finally I argue that the future potential of 'personalized' medicine crucially depends on 'collective' participation of informed citizens. PMID:26792757

  19. Personalized medicine: ethics for clinical trials.

    PubMed

    Sharrer, G Terry

    2012-01-01

    Modern ethical codes in medicine were developed following World War II to provide respect for persons, beneficence, and justice in clinical research. Clinical trial medicine involves greater scrutiny than most research activities. In every instance, clinical trials have institutional review boards to ensure the medical procedure under study complies with regulatory requirements, privacy, informed consent, good practices, safety monitoring, adverse events reporting, and is free of conflicting interests. Mandatory training in medical ethics for all clinical staff is becoming more common, and at some institutions, knowledgeable patient advocates play a watchdog role. In personalized medicine, each patient becomes a clinical trial of one, based on the uniqueness of the person's illness and the relatively tailored treatment. These features imply a shared responsibility between the patient and the researchers because uncertainty exists over the outcome for each individual patient. This chapter introduces ethical considerations using case studies, with historical context, and describes general ethical guidelines for initiating a clinical trial. PMID:22081337

  20. [Personalized medicine in radiotherapy: practitioners' perception].

    PubMed

    Britel, Manon; Foray, Nicolas; Préau, Marie

    2015-01-01

    This exploratory study was designed to investigate the representations of radiotherapists in relation to personalized medicine. On the basis of current?>' available radiotherapy predictive tests, we tried to understand how these tests could be used in routine radiotherapy practice and in what way this possible change of practices could affect the role of radiotherapists in treatment protocols. In the absence of any available data allowing the construction of a quantitative tool, qualitative data were recorded by individual interviews with radiotherapists. Based on textual data analysis, a second national quantitative phase was conducted using a self-administered questionnaire. Crossover analysis of the two datasets highlighted the interest of radiotherapists in personalized medicine and the use of predictive tests, while indicating certain limitations and concerns in relation to ethical issues related to personalized medicine in oncology and the physician's position. PMID:26752033

  1. Personalized medicine for pathological circadian dysfunctions

    PubMed Central

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

    2015-01-01

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

  2. DNA Aptamer Technology for Personalized Medicine

    PubMed Central

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

    2014-01-01

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

  3. Personalized medicine: new genomics, old lessons.

    PubMed

    Offit, Kenneth

    2011-07-01

    Personalized medicine uses traditional, as well as emerging concepts of the genetic and environmental basis of disease to individualize prevention, diagnosis and treatment. Personalized genomics plays a vital, but not exclusive role in this evolving model of personalized medicine. The distinctions between genetic and genomic medicine are more quantitative than qualitative. Personalized genomics builds on principles established by the integration of genetics into medical practice. Principles shared by genetic and genomic aspects of medicine, include the use of variants as markers for diagnosis, prognosis, prevention, as well as targets for treatment, the use of clinically validated variants that may not be functionally characterized, the segregation of these variants in non-Mendelian as well as Mendelian patterns, the role of gene--environment interactions, the dependence on evidence for clinical utility, the critical translational role of behavioral science, and common ethical considerations. During the current period of transition from investigation to practice, consumers should be protected from harms of premature translation of research findings, while encouraging the innovative and cost-effective application of those genomic discoveries that improve personalized medical care. PMID:21706342

  4. Chasing Mendel: five questions for personalized medicine

    PubMed Central

    Joyner, Michael J; Prendergast, Franklyn G

    2014-01-01

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

  5. Training the Future Leaders in Personalized Medicine

    PubMed Central

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

    2016-01-01

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

  6. Personalized medicine: is it a pharmacogenetic mirage?

    PubMed

    Shah, Rashmi R; Shah, Devron R

    2012-10-01

    The notion of personalized medicine has developed from the application of the discipline of pharmacogenetics to clinical medicine. Although the clinical relevance of genetically-determined inter-individual differences in pharmacokinetics is poorly understood, and the genotype-phenotype association data on clinical outcomes often inconsistent, officially approved drug labels frequently include pharmacogenetic information concerning the safety and/or efficacy of a number of drugs and refer to the availability of the pharmacogenetic test concerned. Regulatory authorities differ in their approach to these issues. Evidence emerging subsequently has generally revealed the pharmacogenetic information included in the label to be premature. Revised drugs labels, together with a flurry of other collateral activities, have raised public expectations of personalized medicine, promoted as 'the right drug at the right dose the first time.' These expectations place the prescribing physician in a dilemma and at risk of litigation, especially when evidence-based information on genotype-related dosing schedules is to all intent and purposes non-existent and guidelines, intended to improve the clinical utility of available pharmacogenetic information or tests, distance themselves from any responsibility. Lack of efficacy or an adverse drug reaction is frequently related to non-genetic factors. Phenoconversion, arising from drug interactions, poses another often neglected challenge to any potential success of personalized medicine by mimicking genetically-determined enzyme deficiency. A more realistic promotion of personalized medicine should acknowledge current limitations and emphasize that pharmacogenetic testing can only improve the likelihood of diminishing a specific toxic effect or increasing the likelihood of a beneficial effect and that application of pharmacogenetics to clinical medicine cannot adequately predict drug response in individual patients. PMID:22591598

  7. Personalized medicine: is it a pharmacogenetic mirage?

    PubMed Central

    Shah, Rashmi R; Shah, Devron R

    2012-01-01

    The notion of personalized medicine has developed from the application of the discipline of pharmacogenetics to clinical medicine. Although the clinical relevance of genetically-determined inter-individual differences in pharmacokinetics is poorly understood, and the genotype-phenotype association data on clinical outcomes often inconsistent, officially approved drug labels frequently include pharmacogenetic information concerning the safety and/or efficacy of a number of drugs and refer to the availability of the pharmacogenetic test concerned. Regulatory authorities differ in their approach to these issues. Evidence emerging subsequently has generally revealed the pharmacogenetic information included in the label to be premature. Revised drugs labels, together with a flurry of other collateral activities, have raised public expectations of personalized medicine, promoted as ‘the right drug at the right dose the first time.’ These expectations place the prescribing physician in a dilemma and at risk of litigation, especially when evidence-based information on genotype-related dosing schedules is to all intent and purposes non-existent and guidelines, intended to improve the clinical utility of available pharmacogenetic information or tests, distance themselves from any responsibility. Lack of efficacy or an adverse drug reaction is frequently related to non-genetic factors. Phenoconversion, arising from drug interactions, poses another often neglected challenge to any potential success of personalized medicine by mimicking genetically-determined enzyme deficiency. A more realistic promotion of personalized medicine should acknowledge current limitations and emphasize that pharmacogenetic testing can only improve the likelihood of diminishing a specific toxic effect or increasing the likelihood of a beneficial effect and that application of pharmacogenetics to clinical medicine cannot adequately predict drug response in individual patients. PMID:22591598

  8. [Issues of Personalized Medicine from the Viewpoint of Laboratory Medicine].

    PubMed

    Nobori, Tsutomu

    2015-08-01

    Personalized medicine is expected to provide patients with safe and effective treatment compared to conventional medical care in which patients are treated based on the diagnosis and/or histology. In personalized medicine, patients are treated based on their genetic makeup and genetic characteristics of tumor tissues in the case of cancer chemotherapy. Genomic biomarker tests are used to molecularly characterize host and tumor tissues and stratify patients for the appropriate drugs. Drugs targeting the causative genetic changes have been developed along with companion diagnostics to test such genetic changes. In this paper, I introduce the technical guidance for companion diagnostics and related drugs issued by the Pharmaceutical and Medical Devices Agency of Japan, and discuss how to carry out a concordance study of diagnostic tests for the ALK fusion gene when new ALK inhibitors are approved. The regulations for companion diagnostics should be revised frequently to keep up with advances in this area. PMID:26638437

  9. Personalized medicine and the clinical laboratory

    PubMed Central

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

    2014-01-01

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

  10. Iranian-Islamic traditional medicine: An ancient comprehensive personalized medicine

    PubMed Central

    Zeinalian, Mehrdad; Eshaghi, Mehdi; Naji, Homayoun; Marandi, Sayyed Mohammad Masoud; Sharbafchi, Mohammad Reza; Asgary, Sedigheh

    2015-01-01

    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

  11. Iranian-Islamic traditional medicine: An ancient comprehensive personalized medicine.

    PubMed

    Zeinalian, Mehrdad; Eshaghi, Mehdi; Naji, Homayoun; Marandi, Sayyed Mohammad Masoud; Sharbafchi, Mohammad Reza; Asgary, Sedigheh

    2015-01-01

    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

  12. Systems medicine, personalized health and therapy.

    PubMed

    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

    2015-01-01

    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. PMID:26401575

  13. Personalized medicine and human genetic diversity.

    PubMed

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

    2014-09-01

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

  14. Personalized Medicine and Human Genetic Diversity

    PubMed Central

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

    2014-01-01

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

  15. Individualized medicine enabled by genomics in Saudi Arabia

    PubMed Central

    2015-01-01

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

  16. Implementing Personalized Medicine in a Cancer Center

    PubMed Central

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

    2011-01-01

    In 2006, the Moffitt Cancer Center partnered with patients, community clinicians, industry, academia, and seventeen 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, over 76,000 cancer patients from Moffitt and consortium medical centers have been enrolled in the protocol. The TCC initiative has developed many of the capabilities and resources that are building the foundation of personalized medicine. PMID:22157297

  17. Introduction to Personalized Medicine in Diabetes Mellitus

    PubMed Central

    Glauber, Harry S.; Rishe, Naphtali; Karnieli, Eddy

    2014-01-01

    The world is facing an epidemic rise in diabetes mellitus (DM) incidence, which is challenging health funders, health systems, clinicians, and patients to understand and respond to a flood of research and knowledge. Evidence-based guidelines provide uniform management recommendations for “average” patients that rarely take into account individual variation in susceptibility to DM, to its complications, and responses to pharmacological and lifestyle interventions. Personalized medicine combines bioinformatics with genomic, proteomic, metabolomic, pharmacogenomic (“omics”) and other new technologies to explore pathophysiology and to characterize more precisely an individual’s risk for disease, as well as response to interventions. In this review we will introduce readers to personalized medicine as applied to DM, in particular the use of clinical, genetic, metabolic, and other markers of risk for DM and its chronic microvascular and macrovascular complications, as well as insights into variations in response to and tolerance of commonly used medications, dietary changes, and exercise. These advances in “omic” information and techniques also provide clues to potential pathophysiological mechanisms underlying DM and its complications. PMID:24498509

  18. Impact of Biomarkers on Personalized Medicine.

    PubMed

    Carrigan, Patricia; Krahn, Thomas

    2016-01-01

    The field of personalized medicine that involves the use of measuring biomarkers in clinical samples is an area of high interest and one that has tremendous impact on drug development. With the emergence of more sensitive and specific technologies that are now able to be run in clinical settings and the ability to accurately measure biomarkers, there is a need to understand how biomarkers are defined, how they are used in clinical trials, and most importantly how they are used in conjunction with drug treatment. Biomarker approaches have entered into early clinical trials and are increasingly being used to develop new diagnostics that help to differentiate or stratify the likely outcomes of therapeutic intervention. Tremendous efforts have been made to date to discover novel biomarkers for use in clinical practice. Still, the number of markers that make it into clinical practice is rather low. In the next following chapters, we will explain the various classifications of biomarkers, how they are applied, measured, and used in personalized medicine specifically focusing on how they are used in de-risking the 10 plus years drug development process and lastly how they are validated and transformed into companion diagnostic assays. PMID:26330258

  19. [Personalized medicine: expectations, disappointments and hopes].

    PubMed

    Baranov, V S

    2011-01-01

    Impressive advances in the studies of human genome, identification of mutant genes of hereditary diseases and candidate genes of many chronic multifactorial diseases (MFD) laid the foundation of molecular medicine. Its characteristic features, such as the focus on individual prophylactic care, give reason to consider it as personalized predictive medicine (PPM). The fundamental concept behind PPM comprises the notion of genetic passport and its methodological basis is genetic testing (GT). Recent progress in PPM has been achieved due to the introduction of comprehensive genomic screening of associations. At the same time, the contribution of known individual genes to the development of MFD appears to be relatively insignificant which does not allow to identify the main causes of MFD. It gave rise to some scepsis as regards the value of genome as a source of information for practical medicine. Possibilities for the improvement of GT and conditions for the introduction of the available data into clinical practice are discussed. The necessity to attract clinicians to the work on PPM is emphasized. The development of unified MFD gene panels for clinical application and software for the evaluation and interpretation of GT results for doctors and patients is an indispensable condition for the use of PPM knowledge in the healthcare practice. The importance of solution of relevant ethical, juridical, and social issues is underscored. PMID:22145369

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

    PubMed

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

    2016-08-01

    Personalized medicine encompasses a broad and evolving field informed by a patient distinctive information and biomarker profile. Although terminology is evolving and some semantic interpretations exist (e.g., personalized, individualized, precision), in a broad sense personalized medicine can be coined as: "To practice medicine as it once used to be in the past using the current biotechnological tools." A humanized approach to personalized medicine would offer the possibility of exploiting systems biology and its concept of P5 medicine, where predictive factors for developing a disease should be examined within populations in order to establish preventive measures on at-risk individuals, for whom healthcare should be personalized and participatory. Herein, the process of personalized medicine is presented together with the options that can be offered in health care systems with limited resources for diseases like rheumatoid arthritis and type 1 diabetes. PMID:27302209

  1. Policy perspectives on the emerging pathways of personalized medicine

    PubMed Central

    Downing, Gregory J.

    2009-01-01

    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

  2. Intelligent security and privacy solutions for enabling personalized telepathology

    PubMed Central

    2011-01-01

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

  3. Enabling Disabled Persons to Gain Access to Digital Media

    NASA Technical Reports Server (NTRS)

    Beach, Glenn; OGrady, Ryan

    2011-01-01

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

  4. [Clinical and health economic challenges of personalized medicine].

    PubMed

    Brüggenjürgen, B; Kornbluth, L; Ferrara, J V; Willich, S N

    2012-05-01

    Healthcare systems across the globe are currently challenged by aging populations, increases in chronic diseases and the difficult task of managing a healthcare budget. In this health economic climate, personalized medicine promises not only an improvement in healthcare delivery but also the possibility of more cost-effective therapies. It is important to remember, however, that personalized medicine has the potential to both increase and decrease costs. Each targeted therapy must be evaluated individually. However, standard clinical trial design is not suitable for personalized therapies. Therefore, both scientists and regulatory authorities will need to accept innovative study designs in order to validate personalized therapies. Hence correct economic evaluations are difficult to carry out due to lack of clear clinical evidence, longitudinal accounting and experience with patient/clinician behavior in the context of personalized medicine. In terms of reimbursement, payers, pharmaceutical companies and companion diagnostic manufacturers will also need to explore creative risk-sharing concepts. Germany is no exception to the challenges that face personalized medicine and for personalized medicine to really become the future of medicine many health economic challenges first need to be overcome. The health economic implications of personalized medicine remain unclear but it is certain that the expansion of targeted therapies in current healthcare systems will create a host of challenges. PMID:22526860

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

    PubMed

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

    2013-11-01

    Our objective was to explore citizens' informed and reasoned values and expectations of personalized medicine, a timely yet novel genomics policy issue. A qualitative, public deliberation study was undertaken using a citizens' reference panel on health technologies, established to provide input to the health technology assessment process in Ontario, Canada. The citizens' panel consisted of five women and nine men, aged 18-71 years, with one member selected from each health authority region. There were shared expectations among the citizens' panel members for the potential of personalized medicine technologies to improve care, provided they are deemed clinically valid and effective. These expectations were tempered by concerns about value for money and the possibility that access to treatment may be limited by personalized medicine tests used to stratify patients. Although they questioned the presumed technological imperative presented by personalized medicine technologies, they called for increased efforts to prepare the health-care system to effectively integrate these technologies. This study represents an early but important effort to explore public values toward personalized medicine. This study also provides evidence of the public's ability to form coherent judgments about a new policy issue. Concerned that personalized tests might be used to ration care, they suggested that treatment should be made available if patients wanted it, irrespective of tests that indicate little benefit. This issue raises clinical and policy challenges that may undermine the value of personalized medicine. Further efforts to deliberate with the public are warranted to inform effective, efficient and equitable translation of personalized medicine. PMID:23340511

  6. Personal health care of internal medicine residents

    PubMed Central

    Palabindala, Venkataraman; Foster, Paul; Kanduri, Swetha; Doppalapudi, Avanthi; Pamarthy, Amaleswari; Kovvuru, Karthik

    2012-01-01

    Introduction Medical residents, as part of their job to balance the demands of their work with caring for themselves so as to be mentally, emotionally, and physically sound to stay clinically competent. While regulatory and legislative attempts at limiting medical resident work hours have materialized but have yet to attain passage, there are fairly little data looking into how residents cope up with their demands and yet attend to their own personal health. Design Anonymous mailed survey. Subjects Three hundred and thirty-seven residents from all internal medicine residency programs within United States. Methods We conducted a survey in the form of a questionnaire that was sent by e-mail to the program directors of various internal medicine residency programs within the United States, and responses were collected between May 19 and June 21, 2009. Response was well appreciated with total number of participants of 337 with even demographical distribution in gender, residency year, AMG/IMG, age group. Seventy-one percent of the residents felt that they would prefer getting admitted to their own hospital for any acute medical or surgical condition. Of the 216 residents who have had received health care in the past, almost half of them chose their own hospital because of the proximity, while 45% did not choose their own hospital despite proximity. Two out of three residents missed their doctors appointments or cancelled them due to demands of medical training. Only half of the residents have a primary care physician and almost 80% of them did not have their yearly health checkup. Close to 30% held back information regarding their social and sexual history from their provider because of privacy and confidentiality concerns. Eighty percent of residents never received information about barriers that physicians may face in obtaining care for their socially embarrassing conditions. Seventy percent felt that their performance then was suboptimal because of that health

  7. Personalized Lifestyle Medicine: Relevance for Nutrition and Lifestyle Recommendations

    PubMed Central

    Minich, Deanna M.; Bland, Jeffrey S.

    2013-01-01

    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

  8. How a Patent Eligibility Case Could Affect Personalized Medicine

    PubMed Central

    BROUGHER, JOANNA T.

    2010-01-01

    Personalized medicine may be in danger as the doctrine of patent eligibility –which determines technological innovations that warrant patent protection –faces legal challenges. Diagnostic tests, gene patents, and more are at stake. PMID:22478808

  9. How a patent eligibility case could affect personalized medicine.

    PubMed

    Brougher, Joanna T

    2010-01-01

    Personalized medicine may be in danger as the doctrine of patent eligibility -which determines technological innovations that warrant patent protection -faces legal challenges. Diagnostic tests, gene patents, and more are at stake. PMID:22478808

  10. Patient reactions to personalized medicine vignettes: An experimental design

    PubMed Central

    Butrick, Morgan; Roter, Debra; Kaphingst, Kimberly; Erby, Lori H.; Haywood, Carlton; Beach, Mary Catherine; Levy, Howard P.

    2011-01-01

    Purpose Translational investigation on personalized medicine is in its infancy. Exploratory studies reveal attitudinal barriers to “race-based medicine” and cautious optimism regarding genetically personalized medicine. This study describes patient responses to hypothetical conventional, race-based, or genetically personalized medicine prescriptions. Methods Three hundred eighty-seven participants (mean age = 47 years; 46% white) recruited from a Baltimore outpatient center were randomized to this vignette-based experimental study. They were asked to imagine a doctor diagnosing a condition and prescribing them one of three medications. The outcomes are emotional response to vignette, belief in vignette medication efficacy, experience of respect, trust in the vignette physician, and adherence intention. Results Race-based medicine vignettes were appraised more negatively than conventional vignettes across the board (Cohen’s d = −0.51−0.57−0.64, P < 0.001). Participants rated genetically personalized comparably with conventional medicine (− 0.14−0.15−0.17, P = 0.47), with the exception of reduced adherence intention to genetically personalized medicine (Cohen’s d = −0.38−0.41−0.44, P = 0.009). This relative reluctance to take genetically personalized medicine was pronounced for racial minorities (Cohen’s d =−0.38−0.31−0.25, P = 0.02) and was related to trust in the vignette physician (change in R2 = 0.23, P < 0.001). Conclusions This study demonstrates a relative reluctance to embrace personalized medicine technology, especially among racial minorities, and highlights enhancement of adherence through improved doctor-patient relationships. PMID:21270639

  11. MicroRNA polymorphisms: a giant leap towards personalized medicine

    PubMed Central

    Mishra, Prasun J

    2010-01-01

    “An individual’s genetic inheritance of microRNA polymorphisms associated with disease progression, prognosis and treatment holds the key to create safer and more personalized drugs and can be a giant leap towards personalized medicine.” PMID:20428464

  12. Personalized medicine: risk prediction, targeted therapies and mobile health technology

    PubMed Central

    2014-01-01

    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

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

    PubMed

    Priyadharshini, V S; Teran, Luis M

    2016-01-01

    Respiratory diseases affect humanity globally, with chronic lung diseases (e.g., asthma, chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis, among others) and lung cancer causing extensive morbidity and mortality. These conditions are highly heterogeneous and require an early diagnosis. However, initial symptoms are nonspecific, and the clinical diagnosis is made late frequently. Over the last few years, personalized medicine has emerged as a medical care approach that uses novel technology aiming to personalize treatments according to the particular patient's medical needs. This review highlights the contributions of proteomics toward the understanding of personalized medicine in respiratory disease and its potential applications in the clinic. PMID:26827604

  14. Genomic Discoveries and Personalized Medicine in Neurological Diseases

    PubMed Central

    Zhang, Li; Hong, Huixiao

    2015-01-01

    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. PMID:26690205

  15. Personalized medicine: challenges and opportunities for translational bioinformatics

    PubMed Central

    Overby, Casey Lynnette; Tarczy-Hornoch, Peter

    2013-01-01

    Personalized medicine can be defined broadly as a model of healthcare that is predictive, personalized, preventive and participatory. Two US President’s Council of Advisors on Science and Technology reports illustrate challenges in personalized medicine (in a 2008 report) and in use of health information technology (in a 2010 report). Translational bioinformatics is a field that can help address these challenges and is defined by the American Medical Informatics Association as “the development of storage, analytic and interpretive methods to optimize the transformation of increasing voluminous biomedical data into proactive, predictive, preventative and participatory health.” This article discusses barriers to implementing genomics applications and current progress toward overcoming barriers, describes lessons learned from early experiences of institutions engaged in personalized medicine and provides example areas for translational bioinformatics research inquiry. PMID:24039624

  16. The oral-systemic personalized medicine model at Marshfield Clinic.

    PubMed

    Glurich, I; Acharya, A; Shukla, S K; Nycz, G R; Brilliant, M H

    2013-01-01

    Periodontal disease and diabetes, two diseases that have achieved epidemic status, share a bidirectional 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

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

    PubMed

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

    2016-12-01

    Although personalized medicine is becoming the new paradigm to manage some diseases, the economics of personalized medicine have only focused on assessing the efficiency of specific treatments, lacking a theoretical framework analyzing the interactions between pharmaceutical firms and healthcare systems leading to the implementation of personalized treatments. We model the interaction between the hospitals and the manufacturer of a new treatment as an adverse selection problem where the firm does not have perfect information on the prevalence across hospitals of the genetic characteristics of the patients making them eligible to receive a new treatment. As a result of the model, hospitals with high prevalence rates benefit from the information asymmetry only when the standard treatment is inefficient when applied to the patients eligible to receive the new treatment. Otherwise, information asymmetry has no value. Personalized medicine may be fully or partially implemented depending on the proportion of high prevalence hospitals. PMID:27539222

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

    PubMed

    Prasher, Bhavana; Gibson, Greg; Mukerji, Mitali

    2016-03-01

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

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

    PubMed

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

    2015-01-01

    The development of new methods, devices and apps for self-monitoring have enabled the extension of the application of these approaches for consumer health and research purposes. The increase in the number and variety of devices has generated a complex scenario where reporting guidelines and data exchange formats will be needed to ensure the quality of the information and the reproducibility of results of the experiments. Based on the Minimal Information for Self Monitoring Experiments (MISME) reporting guideline we have developed an XML format (MISME-ML) to facilitate data exchange for self monitoring experiments. We have also developed a sample instance to illustrate the concept and a Java MISME-ML validation tool. The implementation and adoption of these tools should contribute to the consolidation of a set of methods that ensure the reproducibility of self monitoring experiments for research purposes. PMID:26262401

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

    Bland, Jeffrey

    2016-04-01

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

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

    PubMed Central

    Gupta, Pooja D.

    2015-01-01

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

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

    PubMed

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

    2016-01-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

    Billaud, Marc; Guchet, Xavier

    2015-01-01

    The idea of personalized medicine raises a series of questions. If one considers that the physician takes into account the uniqueness of his patient in the frame of the medical consultation, is the definition of medicine as "personalized" not a pleonasm? If not, why has this ambiguous denomination been adopted? In addition, is this form of medicine a novel discipline capable of revolutionizing therapeutic approaches as claimed in its accompanying discourses or is it in continuity with the molecular conception of biomedicine? Rather than attempting to directly answer these questions, we focused our attention on the organizing concepts, the technological breakthroughs and the transformations in medical practices that characterize this medicine. Following this brief analysis, it appears that the choice of a term as equivocal as personalized medicine and the emphasis on the antagonistic notions of revolution and continuity in medicine are the signs of reshuffling that is emerging between actors in the health care system, in academia and in pharmaceutical companies. PMID:26340841

  6. The microeconomics of personalized medicine: today's challenge and tomorrow's promise.

    PubMed

    Davis, Jerel C; Furstenthal, Laura; Desai, Amar A; Norris, Troy; Sutaria, Saumya; Fleming, Edd; Ma, Philip

    2009-04-01

    'Personalized medicine' promises to increase the quality of clinical care and, in some cases, decrease health-care costs. Despite this, only a handful of diagnostic tests have made it to market, with mixed success. Historically, the challenges in this field were scientific. However, as discussed in this article, with the maturation of the '-omics' sciences, it now seems that the major barriers are increasingly related to economics. Overcoming the poor microeconomic alignment of incentives among key stakeholders is therefore crucial to catalysing the further development and adoption of personalized medicine, and we propose several actions that could help achieve this goal. PMID:19300459

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

    PubMed Central

    Stepanov, V.A.

    2010-01-01

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

  8. Personalized cancer immunotherapy using Systems Medicine approaches.

    PubMed

    Gupta, Shailendra K; Jaitly, Tanushree; Schmitz, Ulf; Schuler, Gerold; Wolkenhauer, Olaf; Vera, Julio

    2016-05-01

    The immune system is by definition multi-scale because it involves biochemical networks that regulate cell fates across cell boundaries, but also because immune cells communicate with each other by direct contact or through the secretion of local or systemic signals. Furthermore, tumor and immune cells communicate, and this interaction is affected by the tumor microenvironment. Altogether, the tumor-immunity interaction is a complex multi-scale biological system whose analysis requires a systemic view to succeed in developing efficient immunotherapies for cancer and immune-related diseases. In this review we discuss the necessity and the structure of a systems medicine approach for the design of anticancer immunotherapies. We support the idea that the approach must be a combination of algorithms and methods from bioinformatics and patient-data-driven mathematical models conceived to investigate the role of clinical interventions in the tumor-immunity interaction. For each step of the integrative approach proposed, we review the advancement with respect to the computational tools and methods available, but also successful case studies. We particularized our idea for the case of identifying novel tumor-associated antigens and therapeutic targets by integration of patient's immune and tumor profiling in case of aggressive melanoma. PMID:26174229

  9. Personalized medicine in thrombosis: back to the future.

    PubMed

    Nagalla, Srikanth; Bray, Paul F

    2016-06-01

    Most physicians believe they practiced personalized medicine prior to the genomics era that followed the sequencing of the human genome. The focus of personalized medicine has been primarily genomic medicine, wherein it is hoped that the nucleotide dissimilarities among different individuals would provide clinicians with more precise understanding of physiology, more refined diagnoses, better disease risk assessment, earlier detection and monitoring, and tailored treatments to the individual patient. However, to date, the "genomic bench" has not worked itself to the clinical thrombosis bedside. In fact, traditional plasma-based hemostasis-thrombosis laboratory testing, by assessing functional pathways of coagulation, may better help manage venous thrombotic disease than a single DNA variant with a small effect size. There are some new and exciting discoveries in the genetics of platelet reactivity pertaining to atherothrombotic disease. Despite a plethora of genetic/genomic data on platelet reactivity, there are relatively little actionable pharmacogenetic data with antiplatelet agents. Nevertheless, it is crucial for genome-wide DNA/RNA sequencing to continue in research settings for causal gene discovery, pharmacogenetic purposes, and gene-gene and gene-environment interactions. The potential of genomics to advance medicine will require integration of personal data that are obtained in the patient history: environmental exposures, diet, social data, etc. Furthermore, without the ritual of obtaining this information, we will have depersonalized medicine, which lacks the precision needed for the research required to eventually incorporate genomics into routine, optimal, and value-added clinical care. PMID:26847245

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

    PubMed

    Waldman, S A; Terzic, A

    2014-02-01

    Personalized medicine epitomizes an evolving model of care tailored to the individual patient. This emerging paradigm harnesses radical technological advances to define each patient's molecular characteristics and decipher his or her unique pathophysiological processes. Translated into individualized algorithms, personalized medicine aims to predict, prevent, and cure disease without producing therapeutic adverse events. Although the transformative power of personalized medicine is generally recognized by physicians, patients, and payers, the complexity of translating discoveries into new modalities that transform health care is less appreciated. We often consider the flow of innovation and technology along a continuum of discovery, development, regulation, and application bridging the bench with the bedside. However, this process also can be viewed through a complementary prism, as a necessary supply chain of services and providers, each making essential contributions to the development of the final product to maximize value to consumers. Considering personalized medicine in this context of supply chain management highlights essential points of vulnerability and/or scalability that can ultimately constrain translation of the biological revolution or potentiate it into individualized diagnostics and therapeutics for optimized value creation and delivery. PMID:24448453

  11. Translating the genetics of cystic fibrosis to personalized medicine.

    PubMed

    Corvol, Harriet; Thompson, Kristin E; Tabary, Olivier; le Rouzic, Philippe; Guillot, Loïc

    2016-02-01

    Cystic fibrosis (CF) is the most common life-threatening recessive genetic disease in the Caucasian population. This multiorgan disease is caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein, a chloride channel recognized as regulating several apical ion channels. The gene mutations result either in the lack of the protein at the apical surface or in an improperly functioning protein. Morbidity and mortality because of the mutation of CFTR are mainly attributable to lung disease resulting from chronic infection and inflammation. Since its discovery as the causative gene in 1989, much progress has been achieved not only in clinical genetics but also in basic science studies. Recently, combinations of these efforts have been successfully translated into development and availability for patients of new therapies targeting specific CFTR mutations to correct the CFTR at the protein level. Current technologies such as next gene sequencing and novel genomic editing tools may offer new strategies to identify new CFTR variants and modifier genes, and to correct CFTR to pursue personalized medicine, which is already developed in some patient subsets. Personalized medicine or P4 medicine ("personalized," "predictive," "preventive," and "participatory") is currently booming for CF. The various current and future challenges of personalized medicine as they apply to the issues faced in CF are discussed in this review. PMID:25940043

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

    PubMed Central

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

    2015-01-01

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

  13. Epigenome-based personalized medicine in human cancer.

    PubMed

    Yan, Wenji; Herman, James G; Guo, Mingzhou

    2016-01-01

    Cancer genome sequencing has created an opportunity for precision medicine. Thus far, genetic alterations can only be used to guide treatment for small subsets of certain cancer types with these key alterations. Similar to mutations, epigenetic events are equally suitable for personalized medicine. DNA methylation alterations have been used to identify tumor-specific drug responsive markers. Methylation of MGMT sensitizes gliomas to alkylating agents is an example of epigenetic personalized medicine. Recent studies have revealed that 5-azacytidine and decitabine show activity in myelodysplasia, lung and other cancers. There are currently at least 20 kinds of histone deacetylase inhibitors in clinical testing. Inhibitors targeting other epigenetic regulators are being clinically tested, such as EZH2 inhibitor EPZ-6438. PMID:26344672

  14. Gene expression analysis in RA: towards personalized medicine

    PubMed Central

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

    2014-01-01

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

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

    PubMed

    Blix, Andrew

    2014-08-01

    Personalized medicine is the study of patients' unique environmental influences as well as the totality of their genetic code-their genome-to tailor personalized risk assessments, diagnoses, prognoses, and treatments. The study of how patients' genomes affect responses to medications, or pharmacogenomics, is a related field. Personalized medicine and genomics are particularly relevant in oncology because of the genetic basis of cancer. Nurses need to understand related issues such as the role of genetic and genomic counseling, the ethical and legal questions surrounding genomics, and the growing direct-to-consumer genomics industry. As genomics research is incorporated into health care, nurses need to understand the technology to provide advocacy and education for patients and their families. PMID:25095297

  16. Pharmacogenomics in Pediatric Patients: Towards Personalized Medicine.

    PubMed

    Maagdenberg, Hedy; Vijverberg, Susanne J H; Bierings, Marc B; Carleton, Bruce C; Arets, Hubertus G M; de Boer, Anthonius; Maitland-van der Zee, Anke H

    2016-08-01

    It is well known that drug responses differ among patients with regard to dose requirements, efficacy, and adverse drug reactions (ADRs). The differences in drug responses are partially explained by genetic variation. This paper highlights some examples of areas in which the different responses (dose, efficacy, and ADRs) are studied in children, including cancer (cisplatin), thrombosis (vitamin K antagonists), and asthma (long-acting β2 agonists). For childhood cancer, the replication of data is challenging due to a high heterogeneity in study populations, which is mostly due to all the different treatment protocols. For example, the replication cohorts of the association of variants in TPMT and COMT with cisplatin-induced ototoxicity gave conflicting results, possibly as a result of this heterogeneity. For the vitamin K antagonists, the evidence of the association between variants in VKORC1 and CYP2C9 and the dose is clear. Genetic dosing models have been developed, but the implementation is held back by the impossibility of conducting a randomized controlled trial with such a small and diverse population. For the long-acting β2 agonists, there is enough evidence for the association between variant ADRB2 Arg16 and treatment response to start clinical trials to assess clinical value and cost effectiveness of genotyping. However, further research is still needed to define the different asthma phenotypes to study associations in comparable cohorts. These examples show the challenges which are encountered in pediatric pharmacogenomic studies. They also display the importance of collaborations to obtain good quality evidence for the implementation of genetic testing in clinical practice to optimize and personalize treatment. PMID:27142473

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

    PubMed Central

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

    2015-01-01

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

  18. Colorectal cancer: From prevention to personalized medicine

    PubMed Central

    Binefa, Gemma; Rodríguez-Moranta, Francisco; Teule, Àlex; Medina-Hayas, Manuel

    2014-01-01

    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

  19. An eMERGE Clinical Center at Partners Personalized Medicine

    PubMed Central

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

    2016-01-01

    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. PMID:26805891

  20. H2020 and Beyond: Skip Discrepancy between Theory and Practice of Personalized Medicine. A Position Paper by the Italian Society of Personalized Medicine.

    PubMed

    Borro, Marina; Simmaco, Maurizio; Aceti, Antonio; Barni, Sandro; De Luca, Assunta; Fineschi, Vittorio; Frati, Paola; Girardi, Paolo; Miozzo, Monica; Nati, Giulio; Nicoletti, Ferdinando; Santini, Daniele; Marchetti, Paolo

    2016-01-01

    Many unsolved practical issues, from technical and scientific to ethical, legal and economic topics, are slowing down the translation of Personalized Medicine principles into medical practice. The Italian Society of Personalized Medicine exposes here its point of view, based on the real-world practice of precision medicine carried-out in Italian healthcare structures. PMID:27194357

  1. [Personalized medicine from the viewpoint of patients and their relatives].

    PubMed

    Pogány, Gábor

    2013-03-01

    Our goal was to overview the situation of personalized medicine, especially to characterize the role of patient organizations. We embedded this process into the on-going procedures of the transformation of health care system, outlining the Hungarian and international tendencies. We introduce the exceptional role of rare diseases, among others the rare cancers, thanks to their special status. Some results of the recent Hungarian and international surveys are also demonstrated. The presented global tendencies give the frame for the necessary alteration of the Hungarian health care system. Beside the solution of the country-specific problems of our health care system, the main principles of the new paradigm of 21st century medicine are also influencing: personalized, participatory, preventive, predictive and proactive. The new medicine is continuously associated with the patients, instead of separated interventions. The changing of attitude is necessary for spreading these principles and also gives the basis of future medical service of society. The role of patient organizations is vital during this progress. The development is possible to the direction of patient-centred health care model by changing the structure of residential expenditure, even during the time of global financial crisis. However, a stronger community involvement is required. Good examples of this patient organization involvement are presented in the case of rare diseases, which can be, together with orphan drugs, the precursors to personalized medicine, paving the path to this direction. A closer participation of patients and their organizations is essential to transform the present health care system to the route of personalized medicine and to alter the public outlook. PMID:23573516

  2. AB006. Personalized and precision medicine: are we there yet?

    PubMed Central

    Thong, Meow-Keong

    2015-01-01

    Personalized medicine is determined by an individual’s unique clinical, genomic and environmental information. The molecular understanding of diseases allowed development of preventive healthcare strategies and medical treatments at the pre-symptomatic or earliest stage of the disease. To achieve this promise, DNA-based risk assessment, molecular profiling, targeted therapies and dose selection of therapeutic agents were developed to facilitate customization of patient care. Commercially available genomic tests routinely are applied across a wide range of disease states in predictive or prognostic applications. Many clinicians were concerned about the lack of progress in the clinical application of genomic medicine. The development of genomic diagnostic tools such as array comparative genomic hybridization, exome and whole genome sequencing had a vital role to play in the delineation of new Mendelian loci for previously unrecognized syndromes or identification of additional genes or loci contributing to known disease entities. While the costs of these tests had decreased, the interpretation of information of uncertain significance may require increased ‘genomic counseling’ consultations to allay anxiety. Personalized medicine at present has limited roles in complex disorders or used as a tool lifestyle change decisions as public health or primary care professionals who may not be sufficiently ‘genomic-trained’. Genomic health risk assessments and statistical probabilities are difficult for clients to understand and personalized medicine must be integrated into the existing health systems. In addition, clinical workflow with significant changes required in regulatory and reimbursement policies as well as legislative protection related to patient’s confidentiality will be required. The difficulties with use of genome-wide association studies in clinical practice, with its limited phenotype-genotype impact must be addressed. Personalized medicine is

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

    PubMed

    Miles, Andrew

    2013-01-01

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

  4. [Rheumatoid arthritis: problems and significance of personalized medicine].

    PubMed

    2012-01-01

    The last decade is prominent for significant progress in research in the field of mechanisms underlying development of rheumatoid arthritis (RA) opening new prospects in pathogenetic treatment of this disease. A great success of RA pharmacotherapy during the last 10 year period is design of novel genetically engineered biological medicines. Achievements of molecular biology, pharmacological genetics and biological infornmation science promote an individual approach to treatment of RA patients within a new conception of individual medicine which considers personal aspects of genomic and proteomic sciences. This novel approach to treatment of RA patients can improve RA outcomes and noticeably reduce cost of the treatmnent. PMID:22830204

  5. Building a Personalized Medicine Infrastructure at a Major Cancer Center

    PubMed Central

    Meric-Bernstam, Funda; Farhangfar, Carol; Mendelsohn, John; Mills, Gordon B.

    2013-01-01

    Our understanding of cancer biology is rapidly increasing, as is the availability and affordability of high throughput technologies for comprehensive molecular characterization of tumors and the individual's own genetic makeup. Thus, the time is right to implement personalized molecular medicine for all patients with cancer. Personalized approaches span the full cancer care spectrum from risk stratification to prevention, screening, therapy, and survivorship programs. Several molecular therapeutics have entered clinical trials creating a huge opportunity to couple genomic markers with this emerging drug tool kit. The number of patients managed in major cancer centers creates a challenge to the implementation of genomic technologies required to successfully deliver on the promise of personalized cancer care. This requires a major investment in infrastructure to facilitate rapid deployment of multiplex, cost-effective, and tissue-sparing assays relevant across multiple tumor lineages in the Clinical Laboratory Improvement Amendments (CLIA) environment. Efforts must be made to ensure that assays are accessible to patients most likely to be enrolled onto molecular-marker–driven trials and that the tests are billable and payable, which will make them accessible to a wide range of patients. As the number of patients and aberrations increase, it will become critical to provide decision support for genomic medicine. Institutional commitment is needed to optimize accessibility and quality of research biopsies and to facilitate novel personalized cancer therapy trials. This article will focus on the challenges and opportunities that accompany the building of infrastructure for personalized cancer therapy. PMID:23589548

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

    PubMed

    Carrera, Pricivel M; Olver, Ian

    2015-12-01

    Personalized medicine is revolutionizing the delivery of oncological care, promising benefits both at the patient and health system levels. The cost of targeted therapies, unfortunately, is becoming more expensive and unaffordable. Where supportive care in cancer concerns the prevention and management of the adverse effects of cancer and its treatment and is the thrust of the Multinational Association of Supportive Care in Cancer, financing of and value in personalized medicine is an important area of research and engagement for the association. Discussing patients' concerns with and identifying those at most risk for the financial hazard of cancer treatment and offering financial counseling and assistance and/or referral to support networks are potential key areas for (exploring and providing) better supportive care. The time is now to turn the concern of patients and their carers, providers, and other advocates regarding the affordability of cancer treatment into a collective cause towards coordinated action. PMID:26306523

  7. Next generation sequencing: implications in personalized medicine and pharmacogenomics.

    PubMed

    Rabbani, Bahareh; Nakaoka, Hirofumi; Akhondzadeh, Shahin; Tekin, Mustafa; Mahdieh, Nejat

    2016-05-24

    A breakthrough in next generation sequencing (NGS) in the last decade provided an unprecedented opportunity to investigate genetic variations in humans and their roles in health and disease. NGS offers regional genomic sequencing such as whole exome sequencing of coding regions of all genes, as well as whole genome sequencing. RNA-seq offers sequencing of the entire transcriptome and ChIP-seq allows for sequencing the epigenetic architecture of the genome. Identifying genetic variations in individuals can be used to predict disease risk, with the potential to halt or retard disease progression. NGS can also be used to predict the response to or adverse effects of drugs or to calculate appropriate drug dosage. Such a personalized medicine also provides the possibility to treat diseases based on the genetic makeup of the patient. Here, we review the basics of NGS technologies and their application in human diseases to foster human healthcare and personalized medicine. PMID:27066891

  8. The Role of Surgeons in Building a Personalized Medicine Program

    PubMed Central

    Boland, Genevieve M.; Meric-Bernstam, Funda

    2014-01-01

    Changes in technology, with decreases in the cost of molecular profiling, has expanded the interest in creating institution-wide personalized medicine platforms to allow selective assessment of a given patient’s tumor in real time, with the ability to utilize that information for patient care decisions. In order for this approach to function adequately, a multidisciplinary team must be created in an environment with dedicated support at an institutional level. PMID:24964977

  9. The potential applications of Apolipoprotein E in personalized medicine

    PubMed Central

    Villeneuve, Sylvia; Brisson, Diane; Marchant, Natalie L.; Gaudet, Daniel

    2014-01-01

    Personalized medicine uses various individual characteristics to guide medical decisions. Apolipoprotein (ApoE), the most studied polymorphism in humans, has been associated with several diseases. The purpose of this review is to elucidate the potential role of ApoE polymorphisms in personalized medicine, with a specific focus on neurodegenerative diseases, by giving an overview of its influence on disease risk assessment, diagnosis, prognosis, and therapy. This review is not a systematic inventory of the literature, but rather a summary and discussion of novel, influential and promising works in the field of ApoE research that could be valuable for personalized medicine. Empirical evidence suggests that ApoE genotype informs pre-symptomatic risk for a wide variety of diseases, is valuable for the diagnosis of type III dysbetalipoproteinemia, increases risk of dementia in neurodegenerative diseases, and is associated with a poor prognosis following acute brain damage. ApoE status appears to influence the efficacy of certain drugs, outcome of clinical trials, and might also give insight into disease prevention. Assessing ApoE genotype might therefore help to guide medical decisions in clinical practice. PMID:25071563

  10. Developing an institutional cancer biorepository for personalized medicine.

    PubMed

    Liu, Angen

    2014-03-01

    High quality human biospecimens, such as tissue, blood, cell derivatives, and associated patient clinical information, are key elements of a scientific infrastructure that supports discovery and identification of molecular biomarkers and diagnostic agents. The goal of most biorepositories is to collect, process, store, and distribute human biospecimen for use in basic, translational and clinical research. A biorepository serving as the central hub provides investigators with an invaluable resource with appropriately examined and characterized biospecimens with associated patient clinical information. Expertise in standardization, quality control, and information technology, and awareness of cutting edge research developments are generally required for biorepository development and management. The availability of low cost whole genome profiles of individual tumors has opened up new possibilities for personalized medicine to deliver the most appropriate treatments to individual patients with minimal toxicity. A biorepository in support of personalized medicine thus requires the highest standards of operation and adequate funding, training and certification. This review provides an overview of the development of an institutional cancer biorepository for clinical research and personalized medicine advancement. PMID:24373923

  11. Label-free microcavity biosensors: steps towards personalized medicine.

    PubMed

    Amarie, Dragos; Glazier, James A

    2012-01-01

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

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

    PubMed Central

    Amarie, Dragos; Glazier, James A.

    2012-01-01

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

  13. Implementation and utilization of genetic testing in personalized medicine

    PubMed Central

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

    2014-01-01

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

  14. Economic evaluations of personalized medicine: existing challenges and current developments

    PubMed Central

    Shabaruddin, Fatiha H; Fleeman, Nigel D; Payne, Katherine

    2015-01-01

    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

  15. [Genome sequencing and personalized medicine: perspectives and limitations].

    PubMed

    Le Gall, Jean-Yves; Debré, Patrice

    2014-01-01

    (e.g. imatinib and Bcr/Abl rearrangement; verumafemib and the BRAF V600E mutation). Systematic sequencing of all the genes involved in drug metabolism and responsiveness will lead to individualized pharmacogenetics. Finally, sequencing of the tumoral and constitutional genomes, identfication of somatic mutations, and detection of pharmacogenetic variants will open up the era of personalized medicine. The first results of these targeted therapeutic indications show a gain in the duration of remission and survival, although the cost-effectiveness of these approaches remains to be determined. Finally, this huge capacity for genome sequencing raises a number of regulatory and ethical issues. PMID:26259290

  16. Personality and Longevity: Knowns, Unknowns, and Implications for Public Health and Personalized Medicine

    PubMed Central

    Chapman, Benjamin P.; Roberts, Brent; Duberstein, Paul

    2011-01-01

    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

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

    PubMed

    Yan, Qing

    2012-01-01

    Psychoneuroimmunology (PNI) may provide the scientific basis for personalized and systems medicine. The exploration of the extensive interactions among psychological and behavioral factors, the nervous system, the immune system, and the endocrine system may help understand the mechanisms underlying health, wellness, and diseases. PNI theories based on systems biology methodologies may contribute to the identification of patient patterns for establishing psychological and physiological profiles for personalized medicine. A biopsychosocial model will help elucidate the systemic interrelationships between psychosocial and bio-physiological factors for the development of systems medicine. Many evidences have supported the close relationships between stress, depression, inflammation, and disorders including obesity, cardiovascular disease, diabetes, arthritis, skin diseases, infectious diseases, and sleep disorders. As inflammation is a critical connection among different diseases, the elucidation of the associations may contribute to the findings of systemic therapeutic targets. With the understanding of the translational implications of PNI, integrative interventions in multiple dimensions can be applied to modulate stress responses and promote healthier behaviors. These interventions include combination drug therapies, diets, nutritional supplements, meditation, and other behavioral and mind-body strategies. PMID:22933138

  18. Surgery for NSCLC in the era of personalized medicine.

    PubMed

    Mitsudomi, Tetsuya; Suda, Kenichi; Yatabe, Yasushi

    2013-04-01

    The discovery in 2004 of activating mutations in the EGFR gene opened the era of personalized medicine in thoracic oncology. Treatment with drugs that target EGFR typically results in dramatic tumour response compared with conventional chemotherapy in patients with non-small-cell lung cancer. Subsequently, newer driver oncogenes such as ALK, ROS1 and RET have been discovered. Nevertheless, surgery has become safer and less invasive in the past 10-15 years. In the era of personalized medicine, thoracic surgeons have to think about their evolving roles. In this article, we discuss four topics relevant to this issue. Firstly, the value of surgical specimens as opposed to biopsy specimens for further understanding tumour biology is discussed. Secondly, extended indication of surgery in the era of targeted therapy is considered. Thirdly, in clinical trials that examine neoadjuvant therapy in patients selected by appropriate biomarkers, the important role of surgeons is highlighted. Finally, the possibility of personalizing the surgical procedure itself according to lung cancer subtypes defined by biomarkers is reviewed. PMID:23438759

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

    PubMed

    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

    2016-04-01

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

  20. Infrastructure for Personalized Medicine at Partners HealthCare

    PubMed Central

    Weiss, Scott T.; Shin, Meini Sumbada

    2016-01-01

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

  1. Molecular imaging and personalized medicine: an uncertain future.

    PubMed

    Nunn, Adrian D

    2007-12-01

    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

  2. Genome Paths: A Way to Personalized and Predictive Medicine

    PubMed Central

    2009-01-01

    The review is devoted to the impact of human genome research on progress in modern medicine. Basic achievements in genome research have resulted in the deciphering of the human genome and creation of a molecular landmarks map of the human haploid genome (HapMap Project), which has made a tremendous contribution to our understanding of common genetic and multifactorial (complex) disorders. Current genome studies mainly focus on genetic testing and gene association studies of multifactorial (complex) diseases, with the purpose of their efficient diagnostics and prevention . Identification of candidate ("predisposition") genes participating in the functional genetic modules underlying each common disorder and the use of this genetic background to elaborate sophisticated measures to efficiently prevent them constitutes a major goal in personalized molecular medicine. The concept of a genetic pass as an individual DNA databank reflecting inherited human predisposition to different complex and monogenic disorders, with special emphasis on its present state, and the numerous difficulties related to the practical implementation of personalized medicine are outlined. The problems related to the uncertainness of the results of genetic testing could be overcome at least partly by means of new technological achievements in genome research methods, such as genome-wide association studies (GWAS), massive parallel DNA sequencing, and genetic and epigenetic profiling. The basic tasks of genomic today could be determined as the need to properly estimate the clinical value of genetic testing and its applicability in clinical practice. Feasible ways towards the gradual implementation of personal genetic data, in line with routine laboratory tests, for the benefit of clinical practice are discussed. PMID:22649616

  3. Immune biomarkers: the promises and pitfalls of personalized medicine.

    PubMed

    Willis, Joanna C D; Lord, Graham M

    2015-05-01

    Substantial progress in molecular immunology, coupled with an increasing focus on translational research and an enthusiasm for personalized medicine, has resulted in a rapid expansion in the field of immune biomarkers in recent years. In this Science and Society article, we provide a conceptual overview of the field and discuss the progress that has been made so far, as well as the future potential in the context of the scientific, logistical, financial, legal and ethical framework within which this research is being carried out and translated into clinical use. PMID:25814400

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  6. A new era of personalized medicine for cystic fibrosis – at last!

    PubMed Central

    Quon, Bradley S; Wilcox, Pearce G

    2015-01-01

    The gene responsible for cystic fibrosis (CF) was discovered 25 years ago. This breakthrough has enabled a sophisticated understanding of how various mutations lead to specific alterations in the structure and function of the CF transmembrane regulator (CFTR) protein. Until recently, all therapies in CF were focused on ameliorating the downstream consequences of CFTR dysfunction. High-throughput drug screening approaches have yielded compounds that can modify CFTR structure and function, thus targeting the basic defect in CF. The present article describes the CFTR mutational classes, reviews mutation-specific therapies currently in late-phase clinical development, and highlights research opportunities and challenges with personalized medicine in CF. PMID:26083544

  7. A new era of personalized medicine for cystic fibrosis - at last!

    PubMed

    Quon, Bradley S; Wilcox, Pearce G

    2015-01-01

    The gene responsible for cystic fibrosis (CF) was discovered 25 years ago. This breakthrough has enabled a sophisticated understanding of how various mutations lead to specific alterations in the structure and function of the CF transmembrane regulator (CFTR) protein. Until recently, all therapies in CF were focused on ameliorating the downstream consequences of CFTR dysfunction. High-throughput drug screening approaches have yielded compounds that can modify CFTR structure and function, thus targeting the basic defect in CF. The present article describes the CFTR mutational classes, reviews mutation-specific therapies currently in late-phase clinical development, and highlights research opportunities and challenges with personalized medicine in CF. PMID:26083544

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

    PubMed Central

    Li, Aihua; Meyre, David

    2014-01-01

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

  9. The evolution of personalized cancer genetic counseling in the era of personalized medicine

    PubMed Central

    Vig, Hetal S.; Wang, Catharine

    2014-01-01

    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

  10. What's in a word? The person of personalized (nano)medicine.

    PubMed

    Guchet, Xavier

    2015-10-01

    Personalized medicine has recently become a main goal for healthcare policy. It is often defined as the tailoring of diagnosis and therapies to the genetic profile of each patient, and as such it is supposed to overcome the major thorny issues at stake in biomedicine today. This challenging program is primarily carried out by new approaches in biomedical imaging, molecular analysis, drug delivery and follow-up, taking more and more advantage of nanotechnology. However, in current literature and debates, the term 'personalized medicine' appears to be polysemous. The paper examines this polysemy. It links it to rival epistemic and technological choices in research programs, and it finally argues that this techno-epistemic plurality echoes conflicting expectations and values among today's biomedicine actors. PMID:26446343

  11. Personalized medicine in diabetes: the role of 'omics' and biomarkers.

    PubMed

    Pearson, E R

    2016-06-01

    Personalized medicine, otherwise called stratified or precision medicine, aims to better target intervention to the individual to maximize benefit and minimize harm. This review discusses how diabetes aetiology, pathophysiology and patient genotype influence response to or side effects of the commonly used diabetes treatments. C-peptide is a useful biomarker that is underused to guide treatment choice, severe insulin deficiency predicts non-response to glucagon-like peptide-1 receptor agonists, and thiazolidinediones are more effective in insulin-resistant patients. The field of pharmacogenetics is now yielding clinically important results, with three examples outlined: sulphonylurea sensitivity in patients with HNF1A maturity-onset diabetes of the young; sulphonylurea sensitivity in patients with Type 2 diabetes with reduced function alleles at CYP2C9, resulting in reduced metabolism of sulphonylureas; and severe metformin intolerance associated with reduced function organic cation transporter 1 (OCT1) variants, exacerbated by drugs that also inhibit OCT1. Genome-wide approaches and the potential of other 'omics', including metagenomics and metabolomics, are then outlined, highlighting the complex interacting networks that we need to understand before we can truly personalize diabetes treatments. PMID:26802434

  12. What is personalized medicine and what should it replace?

    PubMed

    Whitcomb, David C

    2012-07-01

    Personalized medicine is a new framework for medical care that involves modelling and simulation of a disease on the basis of its underlying mechanisms. This strategy must replace the 20(th) century paradigm of defining disease by pathology or associated signs and symptoms and conducting outcomes research that is based on the presence or absence of the disease syndrome. New technologies, including next-generation sequencing, the 'omics' and powerful computers provide massive amounts of accurate data. However, attempts to understand complex disorders by applying these new technologies within the 20(th) century framework have failed to produce the expected medical advances. To help physicians embrace a paradigm shift, the limitations of the old framework and major advantages of the new framework must be demonstrated. Chronic pancreatitis is an ideal complex disorder to study to consider the pros and cons of the two frameworks, because the pancreas is such a simple organ for disease modelling, and the advantages of personalized medicine are so profound. PMID:22614753

  13. Reverse Phase Protein Arrays: Mapping the path towards personalized medicine

    PubMed Central

    Gallagher, Rosa I.; Espina, Virginia

    2016-01-01

    Reverse phase protein array (RPPA) technology evolved from the advent of miniaturized immunoassays and gene microarray technology. Reverse phase protein arrays provide either a low throughput or high throughput methodology for quantifying proteins and their post-translationally modified forms in both cellular and non-cellular samples. As the demand for patient tailored therapies increases so does the need for precise and sensitive technology to accurately profile the molecular circuitry driving an individual patient’s disease. RPPAs are currently utilized in clinical trials for profiling and comparing the functional state of protein signaling pathways, either temporally within tumors, between patients, or within the same patients before/after treatment. RPPAs are generally employed for quantifying large numbers of samples on one array, under identical experimental conditions. However, the goal of personalized cancer medicine is to design therapies based on the molecular portrait of a patient’s tumor, which in turn result in more efficacious treatments with less toxicity. Therefore, RPPAs are also being validated for low throughput assays of individual patient samples. This review explores reverse phase protein array technology in the cancer research field, concentrating on its role as a fundamental tool for deciphering protein signaling networks and its emerging role in personalized medicine. PMID:25358623

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

    PubMed Central

    Milani, L; Leitsalu, L; Metspalu, A

    2015-01-01

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

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

    PubMed Central

    Shah, Rashmi R; Smith, Robert L

    2015-01-01

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

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

    PubMed

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

    2015-01-01

    Personalized medicine is based on: 1) improved clinical or non-clinical methods (including biomarkers) for a more discriminating and precise diagnosis of diseases; 2) targeted therapies of the choice or the best drug for each patient among those available; 3) dose adjustment methods to optimize the benefit-risk ratio of the drugs chosen; 4) biomarkers of efficacy, toxicity, treatment discontinuation, relapse, etc. Unfortunately, it is still too often a theoretical concept because of the lack of convenient diagnostic methods or treatments, particularly of drugs corresponding to each subtype of pathology, hence to each patient. Stratified medicine is a component of personalized medicine employing biomarkers and companion diagnostics to target the patients likely to present the best benefit-risk balance for a given active compound. The concept of targeted therapy, mostly used in cancer treatment, relies on the existence of a defined molecular target, involved or not in the pathological process, and/or on the existence of a biomarker able to identify the target population, which should logically be small as compared to the population presenting the disease considered. Targeted therapies and biomarkers represent important stakes for the pharmaceutical industry, in terms of market access, of return on investment and of image among the prescribers. At the same time, they probably represent only the first generation of products resulting from the combination of clinical, pathophysiological and molecular research, i.e. of translational research. PMID:25679189

  17. Development and validation of a personality assessment instrument for traditional korean medicine: sasang personality questionnaire.

    PubMed

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

    2012-01-01

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

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

    PubMed Central

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

    2012-01-01

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

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

    PubMed

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

    2014-03-01

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

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed Central

    Brothers, Kyle B; Rothstein, Mark A

    2015-01-01

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

  2. An integrated framework of personalized medicine: from individual genomes to participatory health care.

    PubMed

    Evers, Andrea W M; Rovers, Maroeska M; Kremer, Jan A M; Veltman, Joris A; Schalken, Jack A; Bloem, Bas R; van Gool, Alain J

    2012-08-01

    Promising research developments in both basic and applied sciences, such as genomics and participatory health care approaches, have generated widespread interest in personalized medicine among almost all scientific areas and clinicians. The term personalized medicine is, however, frequently used without defining a clear theoretical and methodological background. In addition, to date most personalized medicine approaches still lack convincing empirical evidence regarding their contribution and advantages in comparison to traditional models. Here, we propose that personalized medicine can only fulfill the promise of optimizing our health care system by an interdisciplinary and translational view that extends beyond traditional diagnostic and classification systems. PMID:22911520

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

    PubMed

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

    2015-01-01

    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. PMID:25382407

  4. Mitochondrial and nuclear genomics and the emergence of personalized medicine

    PubMed Central

    2012-01-01

    Developing early detection biosensors for disease has been the long‒held goal of the Human Genome Project, but with little success. Conversely, the biological properties of the mitochondrion coupled with the relative simplicity of the mitochondrial genome give this organelle extraordinary functionality as a biosensor and places the field of mitochondrial genomics in a position of strategic advantage to launch significant advances in personalized medicine. Numerous factors make the mitochondrion organelle uniquely suited to be an early detection biosensor with applications in oncology as well as many other aspects of human health and disease. Early detection of disease translates into more effective, less expensive treatments for disease and overall better prognoses for those at greater risk for developing diseases. PMID:23244780

  5. Why personalized medicine will fail if we stay the course

    PubMed Central

    Ramos, Edward; Callier, Shawneequa L; Rotimi, Charles N

    2013-01-01

    Genomic science and associated technologies are providing scientists and clinicians with novel insights that are transforming the delivery of healthcare and the overall well-being of society. However, these insights inform us that historical population sampling approaches for investigating rare and common genetic variations are not representative of the complex ancestral backgrounds of today's patients. In order for personalized medicine to be meaningful and applicable to the global populations, we will need to know how common and rare genetic variants found in different parts of the world influence health and drug response. This article demonstrates the importance of increasing ethnic and racial diversity among participants in genomic research, highlights areas of opportunity for improving our understanding of genomic diversity among populations, and provides examples of successful models that help to resolve these concerns. PMID:23543886

  6. Integrative network modeling approaches to personalized cancer medicine

    PubMed Central

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

    2016-01-01

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

  7. The road from next-generation sequencing to personalized medicine

    PubMed Central

    Gonzalez-Garay, Manuel L.

    2015-01-01

    Moving from a traditional medical model of treating pathologies to an individualized predictive and preventive model of personalized medicine promises to reduce the healthcare cost on an overburdened and overwhelmed system. Next-generation sequencing (NGS) has the potential to accelerate the early detection of disorders and the identification of pharmacogenetics markers to customize treatments. This review explains the historical facts that led to the development of NGS along with the strengths and weakness of NGS, with a special emphasis on the analytical aspects used to process NGS data. There are solutions to all the steps necessary for performing NGS in the clinical context where the majority of them are very efficient, but there are some crucial steps in the process that need immediate attention. PMID:26000024

  8. Forward Individualized Medicine from Personal Genomes to Interactomes

    PubMed Central

    Zhang, Xiang; Kuivenhoven, Jan A.; Groen, Albert K.

    2015-01-01

    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. PMID:26696898

  9. Marriage and Medicine: The Physician as Partner, Parent, and Person

    PubMed Central

    Christie-Seely, J.

    1986-01-01

    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

  10. BioMiner: Paving the Way for Personalized Medicine.

    PubMed

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

    2015-01-01

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

  11. BioMiner: Paving the Way for Personalized Medicine

    PubMed Central

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

    2015-01-01

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

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

    MedlinePlus

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2016-01-01

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

  15. Perceptions of Personalized Medicine in an Academic Health System: Educational Findings

    PubMed Central

    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

    2015-01-01

    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

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

    PubMed

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

    2012-02-01

    Theodor Billroth and Johannes Brahms shared a decades long personal friendship. The music-loving Billroth influenced the work of the famous composer and in turn Brahms also left traces within Billroth's lifetime achievements. To shed light on the close relationship of medicine and music, this manuscript describes both Billroth's life and surgical career as they were influenced and stimulated by his close friendship to Brahms.Theodor Billroth and Johannes Brahms first met in 1865 in Zurich, Switzerland. After Billroth accepted the chair of surgery at the University of Vienna in 1867, Brahms moved to Vienna in 1869. During the following years, Billroth analyzed most of Brahms' compositions prior to publication. Similar to his effective way of teaching medical students and assistants, Billroth stimulated Brahms to publish many of his later compositions. Brahms on the other hand supported Billroth in writing his essay"Who is musical?". Furthermore, music helped Billroth to cope with the demanding working life of a surgeon.Music and surgery share both structural and emotional analogies. While both professions require meticulous techniques, personal interaction is a prerequisite for success. "Science and art scoop from the same well." PMID:22269990

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

    PubMed

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

    2016-05-01

    In the last 20 years, survival among patients with acute respiratory distress syndrome (ARDS) has increased substantially with advances in lung-protective ventilation and resuscitation. Building on this success, personalizing mechanical ventilation to patient-specific physiology for enhanced lung protection will be a top research priority for the years ahead. However, the ARDS research agenda must be broader in scope. Further understanding of the heterogeneous biology, from molecular to mechanical, underlying early ARDS pathogenesis is essential to inform therapeutic discovery and tailor treatment and prevention strategies to the individual patient. The ARDSne(x)t research agenda for the next 20 years calls for bringing personalized medicine to ARDS, asking simultaneously both whether a treatment affords clinically meaningful benefit and for whom. This expanded scope necessitates standard acquisition of highly granular biological, physiological, and clinical data across studies to identify biologically distinct subgroups that may respond differently to a given intervention. Clinical trials will need to consider enrichment strategies and incorporate long-term functional outcomes. Tremendous investment in research infrastructure and global collaboration will be vital to fulfilling this agenda. PMID:27040103

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

    PubMed

    Mou, Hongmei; Brazauskas, Karissa; Rajagopal, Jayaraj

    2015-10-01

    With over 1,500 identifiable mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that result in distinct functional and phenotypical abnormalities, it is virtually impossible to perform randomized clinical trials to identify the best therapeutics for all patients. Therefore, a personalized medicine approach is essential. The only way to realistically accomplish this is through the development of improved in vitro human model systems. The lack of a readily available and infinite supply of human CFTR-expressing airway epithelial cells is a key bottleneck. We propose that a concerted two-pronged approach is necessary for patient-specific cystic fibrosis research to continue to prosper and realize its potential: (1) more effective culture and differentiation conditions for growing primary human airway and nasal epithelial cells and (2) the development of collective protocols for efficiently differentiating disease- and patient-specific induced pluripotent stem cells (iPSC) into pure populations of adult epithelial cells. Ultimately, we need a personalized human model system for cystic fibrosis with the capacity for uncomplicated bankability, widespread availability, and universal applicability for patient-specific disease modeling, novel pharmacotherapy investigation and screening, and readily executable genetic modification. PMID:26335952

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

    PubMed

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

    2013-01-01

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

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

    ERIC Educational Resources Information Center

    Morrison, Ann; Roman, Brenda; Borges, Nicole

    2012-01-01

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

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

    PubMed

    Kleinberger, Jeffrey W; Pollin, Toni I

    2015-06-01

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

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

    PubMed

    Subbiah, M T Ravi

    2007-02-01

    The Human Genome Project and subsequent identification of single nucleotide polymorphisms (SNPs) within populations has played a major role in predicting individual response to drugs (pharmacogenetics) leading to the concept of "personalized medicine." Nutritional genomics is a recent off-shoot of this genetic revolution that includes (1) nutrigenomics: the study of interaction of dietary components with the genome and the resulting proteonomic and metabolomic changes; and (2) nutrigenetics: understanding the gene-based differences in response to dietary components and developing nutraceuticals that are most compatible with health based on individual genetic makeup. Despite the extensive data on genetic polymorphisms in humans, its translation into medical practice has been slow because of the time required to accumulate population data on SNP incidence, understand the significance of a given SNP in disease, and develop suitable diagnostic tests. Nutrigenomics revitalized the field by showing that nutrients and botanicals can interact with the genome and modify subsequent gene expression, which has provided a great impetus for nutrigenetic research and nutraceutical development based on nutrigenetics. Polymorphisms in methlyene tetrahydrofolate reductase (MTHFR) (involved in folate metabolism), apolipoprotein E (Apo E) and ApoA1 (in cardiovascular disease), and leptin/leptin receptor (obesity) genes are some good examples for understanding basic nutrigenetics. Developing nutraceuticals to prevent and manage thrombosis risk in women with thrombophilic gene mutations are discussed in the context of the opportunities that exist at the nutrigenetic/pharmacogenetic interphase leading to "personalized nutrition." Further research on individual differences in genetic profiles and nutrient requirements will help establish nutrigenetics as an essential discipline for nutrition and dietetics practice. PMID:17240315

  3. Individualizing breast cancer treatment-The dawn of personalized medicine.

    PubMed

    Nandy, Argha; Gangopadhyay, Sudeshna; Mukhopadhyay, Ashis

    2014-01-01

    Identification of breast cancer not being a single disease but backed by multiple heterogeneous oncogenic subpopulations is of growing interest in developing personalized therapies to provide optimal outcomes. Through this review, we bring attention to evolution of tumor and microenvironment heterogeneity as a predominant challenge in stratifying therapies. Establishment of a 'precancer niche' serves as a prerequisite for genetically initiated cells to survive and promote neoplastic evolution towards clinically established cancer through development of tumor and its microenvironment. Additionally, continuous evolutionary interplay between tumor and recruited stromal cells along with many other components in the tumor microenvironment adds up to further complexity in developing targeted therapies. However, through continued excellence in developing high throughput technologies including the advent of single-nucleus sequencing, which makes it possible to sequence individual tumor cells, leads to improved abilities in decoding the heterogenic perturbations through reconstruction of tumor evolutionary lineages. Furthermore, simple liquid-biopsies in form of enumeration/characterization of circulating tumor cells and tumor microvesicles found in peripheral circulation, shed from distinct tumor lesions, show great promise as prospective biomarkers towards better prognosis in tailoring individualized therapies to breast cancer patients. Lastly, by means of network medicinal approaches, it is seemingly possible to develop a map of the cell's intricate wiring network, helping to identify appropriate interconnected protein networks through which the disease spreads, offering a more patient-specific outcome. Although these therapeutic interventions through designing personalized oncology-based trials are promising, owing to continuous tumor evolution, targeting genome instability survival pathways might become an economically viable alternative. PMID:24051330

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

    PubMed Central

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

    2015-01-01

    In healthcare, big data tools and technologies have the potential to create significant value by improving outcomes while lowering costs for each individual patient. Diagnostic images, genetic test results and biometric information are increasingly generated and stored in electronic health records presenting us with challenges in data that is by nature high volume, variety and velocity, thereby necessitating novel ways to store, manage and process big data. This presents an urgent need to develop new, scalable and expandable big data infrastructure and analytical methods that can enable healthcare providers access knowledge for the individual patient, yielding better decisions and outcomes. In this paper, we briefly discuss the nature of big data and the role of semantic web and data analysis for generating “smart data” which offer actionable information that supports better decision for personalized medicine. In our view, the biggest challenge is to create a system that makes big data robust and smart for healthcare providers and patients that can lead to more effective clinical decision-making, improved health outcomes, and ultimately, managing the healthcare costs. We highlight some of the challenges in using big data and propose the need for a semantic data-driven environment to address them. We illustrate our vision with practical use cases, and discuss a path for empowering personalized medicine using big data and semantic web technology. PMID:25705726

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

    PubMed

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

    2012-01-01

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

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

    PubMed Central

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

    2012-01-01

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

  7. Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

    PubMed Central

    Jamuar, Saumya Shekhar; Kuan, Jyn Ling; Brett, Maggie; Tiang, Zenia; Tan, Wilson Lek Wen; Lim, Jiin Ying; Liew, Wendy Kein Meng; Javed, Asif; Liew, Woei Kang; Law, Hai Yang; Tan, Ee Shien; Lai, Angeline; Ng, Ivy; Teo, Yik Ying; Venkatesh, Byrappa; Reversade, Bruno; Tan, Ene Choo; Foo, Roger

    2016-01-01

    Background In Western cohorts, the prevalence of incidental findings (IFs) or incidentalome, referring to variants in genes that are unrelated to the patient's primary condition, is between 0.86% and 8.8%. However, data on prevalence and type of IFs in Asian population is lacking. Methods In 2 cohorts of individuals with genomic sequencing performed in Singapore (total n = 377), we extracted and annotated variants in the 56 ACMG-recommended genes and filtered these variants based on the level of pathogenicity. We then analyzed the precise distribution of IFs, class of genes, related medical conditions, and potential clinical impact. Results We found a total of 41,607 variants in the 56 genes in our cohort of 377 individuals. After filtering for rare and coding variants, we identified 14 potential variants. After reviewing primary literature, only 4 out of the 14 variants were classified to be pathogenic, while an additional two variants were classified as likely pathogenic. Overall, the cumulative prevalence of IFs (pathogenic and likely pathogenic variants) in our cohort was 1.6%. Conclusion The cumulative prevalence of IFs through genomic sequencing is low and the incidentalome may not be a significant barrier to implementation of genomics for personalized medicine. PMID:27077130

  8. "Personalizing" academic medicine: opportunities and challenges in implementing genomic profiling.

    PubMed

    Tweardy, David J; Belmont, John W

    2009-12-01

    BCM faculty members spearheaded the development of a first-generation Personal Genome Profile (Baylor PGP) assay to assist physicians in diagnosing and managing patients in this new era of medicine. The principles that guided the design and implementation of the Baylor PGP were high quality, robustness, low expense, flexibility, practical clinical utility, and the ability to facilitate broad areas of clinical research. The most distinctive feature of the approach taken is an emphasis on extensive screening for rare disease-causing mutations rather than common risk-increasing polymorphisms. Because these variants have large direct effects, the ability to screen for them inexpensively could have a major immediate clinical impact in disease diagnosis, carrier detection, presymptomatic detection of late onset disease, and even prenatal diagnosis. In addition to creating a counseling tool for individual "consumers," this system will fit into the established medical record and be used by physicians involved in direct patient care. This article describes an overall framework for clinical diagnostic array genotyping and the available technologies, as well as highlights the opportunities and challenges for implementation. PMID:19931194

  9. Personalized medicine: an update of salivary biomarkers for periodontal diseases.

    PubMed

    Korte, Dina L; Kinney, Janet

    2016-02-01

    This article provides an up-to-date review of the more robust salivary biomarkers, as well as of panels of combinatorial markers and periodontal pathogens, that reveal high sensitivity and specificity for enhancing clinical decision-making in periodontal disease progression, risk and diagnosis. Periodontal diseases are complex and require an inflammatory response to bacterial pathogens in a susceptible host to stimulate tissue destruction. When used alone, traditional clinical assessments provide a diagnosis of periodontitis only after the biologic onset of the disease process, and are unable to substantiate disease activity or future risk. New technologies are becoming available that are capable of measuring combinations of inflammatory cytokines and proteinases for rapid chair-side testing. Utilizing saliva to identify and measure specific phenotypes and host-derived mediators will allow highly individualized diagnosis, prognosis and treatments for periodontal diseases. This personalized medicine approach will strengthen the power of the clinical oral examination and medical history assessments, providing patients with evidence-based, targeted risk care. PMID:26662480

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  12. Integrating Genomics into Clinical Oncology: Ethical and Social Challenges from Proponents of Personalized Medicine

    PubMed Central

    Settersten, Richard A.; Juengst, Eric T.; Fishman, Jennifer R.

    2013-01-01

    Summary The use of molecular tools to individualize health care, predict appropriate therapies and prevent adverse health outcomes has gained significant traction in the field of oncology, under the banner of “personalized medicine.” Enthusiasm for personalized medicine in oncology has been fueled by success stories of targeted treatments for a variety of cancers based on their molecular profiles. Though these are clear indications of optimism for personalized medicine, little is known about the ethical and social implications of personalized approaches in clinical oncology. The objective of this study is to assess how a range of stakeholders engaged in promoting, monitoring, and providing personalized medicine understand the challenges of integrating genomic testing and targeted therapies into clinical oncology. The study involved the analysis of in-depth interviews with 117 basic scientists, clinician-researchers, clinicians in private practice, health professional educators, representatives of funding agencies, medical journal editors, entrepreneurs, and insurers whose experiences and perspectives on personalized medicine span a wide variety of institutional and professional settings. Despite considerable enthusiasm for this shift, promoters, monitors and providers of personalized medicine identified four domains which will still provoke heightened ethical and social concerns: (1) informed consent for cancer genomic testing, (2) privacy, confidentiality, and disclosure of genomic test results, (3) access to genomic testing and targeted therapies in oncology, and (4) the costs of scaling up pharmacogenomic testing and targeted cancer therapies. These specific concerns are not unique to oncology, or even genomics. However, those most invested in the success of personalized medicine view oncologists’ responses to these challenges as precedent-setting because oncology is farther along the path of clinical integration of genomic technologies than other fields

  13. Personalized Medicine for Management of Benign Prostatic Hyperplasia

    PubMed Central

    Bechis, Seth K.; Otsetov, Alexander G.; Ge, Rongbin; Olumi, Aria F.

    2014-01-01

    Purpose Benign prostatic hyperplasia (BPH) affects over 50 percent of men by age 60 and is the cause of millions of dollars of healthcare expenditure for treatment of lower urinary tract symptoms (LUTS) and urinary obstruction. Despite the widespread use of medical therapy, there is no universal therapy that treats all men with symptomatic BPH, and at least 30% of patients do not respond to medical management and a subset require surgery. Significant advances have been made in understanding the natural history and development of the prostate, such as elucidating the role of the enzyme 5α reductase Type 2 (5AR2), and advances in genomics and biomarker discovery offer the potential for a more targeted approach to therapy. We review the current understanding of BPH progression as well as key genes and signaling pathways implicated in the process such as 5α reductase. We also explore the potential of biomarker screening and gene-specific therapies as tools to risk stratify BPH patients and identify those with symptomatic or medically resistant forms. Materials and Methods A PubMed® literature search of current and past peer-reviewed literature on prostate development, lower urinary tract symptoms, BPH pathogenesis, targeted therapy, biomarkers, epigenetics, 5AR2 and personalized medicine was performed. An additional Google Scholar™ search was conducted to broaden the scope of the review. Relevant reviews and original research articles were examined as well as their cited references, and a synopsis of original data was generated with the goal of informing the practicing urologist of these advances and their implications. Results BPH is associated with a state of hyperplasia of both the stromal and epithelial compartments, with 5AR2 and androgen signaling playing key roles in development and maintenance of the prostate. Chronic inflammation, multiple growth factor and hormonal signaling pathways, and medical comorbidities play an intricate role in prostate tissue

  14. Frontotemporal Lobar Degeneration: Defining Phenotypic Diversity Through Personalized Medicine

    PubMed Central

    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.

    2015-01-01

    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

  15. Gene patents and personalized medicine - what lies ahead?

    PubMed Central

    2009-01-01

    Gene patents have generally not impeded biomedical research, but some problems that arise in genetic diagnostics can be attributed to exclusively licensed gene patents. Gene patents for therapeutics have often been litigated but have received surprisingly little public outcry. In stark contrast, genetic diagnostics have been highly controversial but rarely litigated: no case has gone to trial and there is little case law to guide policy. Most recently the Secretary's Advisory Committee for Genetics Health and Society (SACGHS) released a draft report examining how patenting and licensing affect access to clinical genetic testing in the US. The SACGHS reported that patents neither greatly hindered nor facilitated patient access to genetic testing; both the harms and the benefits of patents on genetic diagnostics have been exaggerated. Problems do occur when patents are exclusively licensed to a single provider and no alternative is available. Courts have been changing the thresholds for what can be patented, and how strongly patents can be enforced. Technologies for sequencing, genotyping and gene expression profiling promise to guide clinical decisions in managing common chronic diseases and infectious diseases, and will likely be an integral part of personalized medicine. Developing such genomic tests may require mapping a complex intellectual property landscape and cutting through thickets of patented DNA sequences and related methods. Our preliminary studies have found patent claims that, if strictly enforced, might block the use of multi-gene tests or full-genome sequence data. Yet new technologies promise to reduce the costs of complete genomic sequencing to prices that are comparable to current genetic tests for a single condition. Courts, companies, and policy makers seem unlikely to allow intellectual property to obstruct such technological advance, but prudent policy will depend on careful analysis and foresight. The SACGHS report signals that the US

  16. Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.

    PubMed

    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

    2015-04-01

    Frontotemporal lobar degeneration (FTLD) comprises two main classes of neurodegenerative diseases characterized by neuronal/glial proteinaceous inclusions (i.e., 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 toward the goal of defining clinical endophenotypes of FTD. PMID:25549971

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

    PubMed

    Abettan, Camille

    2016-09-01

    Over the last decade, personalized medicine has become a buzz word, which covers a broad spectrum of meanings and generates many different opinions. The purpose of this article is to achieve a better understanding of the reasons why personalized medicine gives rise to such conflicting opinions. We show that a major issue of personalized medicine is the gap existing between its claims and its reality. We then present and analyze different possible reasons for this gap. We propose an hypothesis inspired by the Windelband's distinction between nomothetic and idiographic methodology. We argue that the fuzzy situation of personalized medicine results from a mix between idiographic claims and nomothetic methodological procedures. Hence we suggest that the current quandary about personalized medicine cannot be solved without getting involved in a discussion about the complex epistemological and methodological status of medicine. To conclude, we show that the Gadamer's view of medicine as a dialogical process can be fruitfully used and reveals that personalization is not a theoretical task, but a practical one, which takes place within the clinical encounter. PMID:26951521

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed Central

    Byrd, James Brian

    2016-01-01

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

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

    MedlinePlus

    ... more efficient. Titled "Personal Electronic Health Records: From Biomedical Research to People's Health," the conference was in ... affecting their care."— Daniel Masys, Chair, Department of Biomedical Informatics, and Professor of Medicine, Vanderbilt University Medical ...

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

    NASA Video Gallery

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

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

    MedlinePlus

    ... page please turn Javascript on. ePatient Conference Explores Future of Personalized Medicine Past Issues / Spring - Summer 2010 ... FNLM Chairman How are computer networks and digital technologies changing the future of health care? Will you ...

  3. The Future of Personalized Medicine | NIH MedlinePlus the Magazine

    MedlinePlus

    ... of this page please turn Javascript on. The Future of Personalized Medicine, From NIH Director Dr. Francis S. ... your physician to be sure you are taking advantage of all possible methods for surveillance and early ...

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

    PubMed Central

    Volm, Manfred; Efferth, Thomas

    2015-01-01

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

  5. Predictive diagnostics and personalized medicine for the prevention of chronic degenerative diseases

    PubMed Central

    2010-01-01

    Progressive increase of mean age and life expectancy in both industrialized and emerging societies parallels an increment of chronic degenerative diseases (CDD) such as cancer, cardiovascular, autoimmune or neurodegenerative diseases among the elderly. CDD are of complex diagnosis, difficult to treat and absorbing an increasing proportion in the health care budgets worldwide. However, recent development in modern medicine especially in genetics, proteomics, and informatics is leading to the discovery of biomarkers associated with different CDD that can be used as indicator of disease’s risk in healthy subjects. Therefore, predictive medicine is merging and medical doctors may for the first time anticipate the deleterious effect of CDD and use markers to identify persons with high risk of developing a given CDD before the clinical manifestation of the diseases. This innovative approach may offer substantial advantages, since the promise of personalized medicine is to preserve individual health in people with high risk by starting early treatment or prevention protocols. The pathway is now open, however the road to an effective personalized medicine is still long, several (diagnostic) predictive instruments for different CDD are under development, some ethical issues have to be solved. Operative proposals for the heath care systems are now needed to verify potential benefits of predictive medicine in the clinical practice. In fact, predictive diagnostics, personalized medicine and personalized therapy have the potential of changing classical approaches of modern medicine to CDD. PMID:21172060

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

    PubMed Central

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

    2016-01-01

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

  7. Living Long and Well: Prospects for a Personalized Approach to the Medicine of Ageing.

    PubMed

    Fuellen, Georg; Schofield, Paul; Flatt, Thomas; Schulz, Ralf-Joachim; Boege, Fritz; Kraft, Karin; Rimbach, Gerald; Ibrahim, Saleh; Tietz, Alexander; Schmidt, Christian; Köhling, Rüdiger; Simm, Andreas

    2016-01-01

    Research into ageing and its underlying molecular basis enables us to develop and implement targeted interventions to ameliorate or cure its consequences. However, the efficacy of interventions often differs widely between individuals, suggesting that populations should be stratified or even individualized. Large-scale cohort studies in humans, similar systematic studies in model organisms as well as detailed investigations into the biology of ageing can provide individual validated biomarkers and mechanisms, leading to recommendations for targeted interventions. Human cohort studies are already ongoing, and they can be supplemented by in silico simulations. Systematic studies in animal models are made possible by the use of inbred strains or genetic reference populations of mice. Combining the two, a comprehensive picture of the various determinants of ageing and 'health span' can be studied in detail, and an appreciation of the relevance of results from model organisms to humans is emerging. The interactions between genotype and environment, particularly the psychosocial environment, are poorly studied in both humans and model organisms, presenting serious challenges to any approach to a personalized medicine of ageing. To increase the success of preventive interventions, we argue that there is a pressing need for an individualized evaluation of interventions such as physical exercise, nutrition, nutraceuticals and calorie restriction mimetics as well as psychosocial and environmental factors, separately and in combination. The expected extension of the health span enables us to refocus health care spending on individual prevention, starting in late adulthood, and on the brief period of morbidity at very old age. PMID:26675034

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

    PubMed

    Smith, David E

    2016-01-01

    As of September 2015, the cultivation, possession, and/or use of marijuana is illegal under U.S. federal law as a Schedule I narcotic; however, it is legal in four states and Washington, D.C. Forty-six states allow some form of medicinal marijuana or decriminalization. Marijuana has been used medicinally for thousands of years; Marijuana's regulation by law enforcement in the U.S., rather than the medical community, led to an almost complete halt to academic and scientific research after the 1930s. The late 1960s saw an upsurge in recreational marijuana use by middle-class youth, the majority of whom experienced minimal adverse effects aside from arrest and attendant legal complications. Since the mid-1990s, the use of medicinal marijuana for certain conditions has gained increasing acceptance. Stronger strains and formulations of marijuana pose a risk to the developing brains of adolescents. Within the addiction medicine community, there is currently no consensus on marijuana. In the East, the feeling is primarily that marijuana continue to be proscribed. In the West, where clinicians must face the realities of medicalization, decriminalization, and/or legalization, as well as widespread recreational use, there is more of a movement to minimize adverse effects, particularly on youth. PMID:26757396

  9. Review and Updates in Regenerative and Personalized Medicine, Preclinical Animal Models, and Clinical Care in Cardiovascular Medicine.

    PubMed

    Barbato, Emanuele; Barton, Paul J; Bartunek, Jozef; Huber, Sally; Ibanez, Borja; Judge, Daniel P; Lara-Pezzi, Enrique; Stolen, Craig M; Taylor, Angela; Hall, Jennifer L

    2015-11-01

    The goal of this paper is to provide an updated review for scientists and clinicians on the major areas in cardiovascular medicine published in the Journal. Leading topics in regenerative and personalized medicine are presented along with a critical overview of the field. New standards in large preclinical animal models of pulmonary hypertension and left bundle branch block are highlighted. Finally, clinical care in the areas of atherosclerosis, the aortic valve, platelet biology, and myocarditis is discussed as well as autonomic modulation therapies. PMID:26453460

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

    PubMed

    Sun, Yajuan; Soh, Siowling

    2015-12-16

    Personalizing the release profiles of drugs is important for different people with different medical and biological conditions. A technically simple and low-cost method to fabricate fully customizable tablets that can deliver drugs with any type of release profile is described. The customization is intuitively straightforward: the desired profile can simply be "drawn" and printed by a 3D printer. PMID:26498272

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

    PubMed Central

    Gojo, Ivana; Karp, Judith E.

    2014-01-01

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

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

    PubMed Central

    Swan, Melanie

    2012-01-01

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

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

    PubMed

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

    2016-01-01

    India ratified the United Nations Convention on the Rights of Person with Disabilities (UNCRPD) in 2007. This is a welcome step towards realizing the rights of the persons with disability. The UNCRPD proclaims that disability results from interaction of impairments with attitudinal and environmental barriers which hinders full and active participation in society on an equal basis with others. Further, the convention also mandates the signatory governments to change their local laws, to identify and eliminate obstacles and barriers and to comply with the terms of the UNCRPD in order to protect the rights of the person with disabilities, hence the amendments of the national laws. Hence, the Government of India drafted two important bill the Right of Persons with Disabilities Bill, 2014 (RPWD Bill, 2014) and Mental Health Care Bill, 2013 (MHC Bill, 2013). There is no doubt that persons with mental illness are stigmatized and discriminated across the civil societies, which hinders full and active participation in society. This situation becomes worse with regard to providing mental health care, rehabilitation and social welfare measures to persons with mental illness. There is an urgent need to address this issue of attitudinal barrier so that the rights of persons with mental illness is upheld. Hence, this article discusses shortcomings in the Right of Persons with Disabilities Bill, 2014 (RPWD Bill, 2014) from the perspective of persons with mental illness. Further, the article highlights the need to synchronize both the RPWD Bill, 2014 and Mental Health Care Bill, 2013 to provide justice for persons with mental illness. PMID:27385843

  14. Personalized Medicine for Obstructive Sleep Apnea Therapies: Are We There Yet?

    PubMed

    Edwards, Bradley A; Landry, Shane; Joosten, Simon A; Hamilton, Garun S

    2016-09-01

    Currently there is no method to predict which treatments for obstructive sleep apnea will have the best outcomes in individual patients. Given that there is increasing interest in a personalized medicine approach to the treatment of a variety of disorders, this review describes the personalized approaches that are currently available for the treatment of obstructive sleep apnea as well as future directions for individualized obstructive sleep apnea treatment. PMID:27542876

  15. Precision medicine and personalized breast cancer: combination pertuzumab therapy

    PubMed Central

    Reynolds, Kerry; Sarangi, Sasmit; Bardia, Aditya; Dizon, Don S

    2014-01-01

    Trastuzumab (Herceptin), a monoclonal antibody directed against the human epidermal growth-factor receptor 2 (HER2), is the poster child for antibody-based targeted therapy in breast cancer. Pertuzumab, another humanized monoclonal antibody, binds to a different domain of HER2 and prevents the formation of HER2:HER3 dimers, which is the most potent heterodimer in the HER family. The combination of trastuzumab and pertuzumab has synergistic activity, and is associated with improved clinical outcomes. The US Food and Drug Administration (FDA) approved pertuzumab in combination with trastuzumab-based chemotherapy originally as first-line therapy for metastatic HER2-positive breast cancer in 2012, and more recently as neoadjuvant therapy for localized disease in 2013. Pertuzumab is the first neoadjuvant drug to receive accelerated approval by the FDA based on pathological complete response as the primary end point. In this article, we review the mechanism of action, pharmacokinetics, clinical efficacy, safety, and current role of pertuzumab in the management of breast cancer, as well as ongoing clinical trials and future directions regarding the utility of pertuzumab as a personalized therapeutic option for HER2-positive breast cancer. In the coming years, we anticipate increased utilization of neoadjuvant trials for drug development, biomarker discovery, and validation, and envision conduct of personalized breast cancer clinics in which therapies will be routinely selected based on genetic alterations in the tumor. Regardless of the targeted therapy combinations employed based on tumor genomic profile, trastuzumab and pertuzumab will likely continue to form the backbone of the personalized regimen for HER2-positive breast cancer. PMID:24715764

  16. Overcoming Obstacles To Enable Access To Medicines For Noncommunicable Diseases In Poor Countries.

    PubMed

    Kishore, Sandeep P; Kolappa, Kavitha; Jarvis, Jordan D; Park, Paul H; Belt, Rachel; Balasubramaniam, Thirukumaran; Kiddell-Monroe, Rachel

    2015-09-01

    The modern access-to-medicines movement grew largely out of the civil-society reaction to the HIV/AIDS pandemic three decades ago. While the movement was successful with regard to HIV/AIDS medications, the increasingly urgent challenge to address access to medicines for noncommunicable diseases has lagged behind-and, in some cases, has been forgotten. In this article we first ask what causes the access gap with respect to lifesaving essential noncommunicable disease medicines and then what can be done to close the gap. Using the example of the push for access to antiretrovirals for HIV/AIDS patients for comparison, we highlight the problems of inadequate global financing and procurement for noncommunicable disease medications, intellectual property barriers and concerns raised by the pharmaceutical industry, and challenges to building stronger civil-society organizations and a patient and humanitarian response from the bottom up to demand treatment. We provide targeted policy recommendations, specific to the public sector, the private sector, and civil society, with the goal of improving access to noncommunicable disease medications globally. PMID:26355060

  17. Macrophage responses to implants: prospects for personalized medicine.

    PubMed

    Kzhyshkowska, Julia; Gudima, Alexandru; Riabov, Vladimir; Dollinger, Camille; Lavalle, Philippe; Vrana, Nihal Engin

    2015-12-01

    Implants, transplants, and implantable biomedical devices are mainstream solutions for a wide variety of human pathologies. One of the persistent problems around nondegradable metallic and polymeric implants is failure of macrophages to resolve the inflammation and their tendency to stay in a state, named "frustrated phagocytosis." During the initial phase, proinflammatory macrophages induce acute reactions to trauma and foreign materials, whereas tolerogenic anti-inflammatory macrophages control resolution of inflammation and induce the subsequent healing stage. However, implanted materials can induce a mixed pro/anti-inflammatory phenotype, supporting chronic inflammatory reactions accompanied by microbial contamination and resulting in implant failure. Several materials based on natural polymers for improved interaction with host tissue or surfaces that release anti-inflammatory drugs/bioactive agents have been developed for implant coating to reduce implant rejection. However, no definitive, long-term solution to avoid adverse immune responses to the implanted materials is available to date. The prevention of implant-associated infections or chronic inflammation by manipulating the macrophage phenotype is a promising strategy to improve implant acceptance. The immunomodulatory properties of currently available implant coatings need to be improved to develop personalized therapeutic solutions. Human primary macrophages exposed to the implantable materials ex vivo can be used to predict the individual's reactions and allow selection of an optimal coating composition. Our review describes current understanding of the mechanisms of macrophage interactions with implantable materials and outlines the prospects for use of human primary macrophages for diagnostic and therapeutic approaches to personalized implant therapy. PMID:26168797

  18. Molecular imaging in the framework of personalized cancer medicine.

    PubMed

    Belkić, Dzevad; Belkić, Karen

    2013-11-01

    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. PMID:24511645

  19. Personalized Medicine in Cerebrovascular Neurosurgery: Precision Neurosurgical Management of Cerebral Aneurysms and Subarachnoid Hemorrhage

    PubMed Central

    Achrol, Achal Singh; Steinberg, Gary K.

    2016-01-01

    Cerebral aneurysms are common vascular lesions. Little is known about the pathogenesis of these lesions and the process by which they destabilize and progress to rupture. Treatment decisions are motivated by a desire to prevent rupture and the devastating morbidity and mortality associated with resulting subarachnoid hemorrhage (SAH). For patients presenting with SAH, urgent intervention is required to stabilize the lesion and prevent re-rupture. Those patients fortunate enough to survive a presenting SAH and subsequent securing of their aneurysm must still face a spectrum of secondary sequelae, which can include cerebral vasospasm, delayed ischemia, seizures, cerebral edema, hydrocephalus, and endocrinologic and catecholamine-induced systemic dysfunction in cardiac, pulmonary, and renal systems. Increased focus on understanding the pathophysiology and molecular characteristics of these secondary processes will enable the development of targeted therapeutics and novel diagnostics for improved patient selection in personalized medicine trials for SAH. In unruptured cerebral aneurysms, treatment decisions are less clear and currently based solely on treating larger lesions, using rigid aneurysm size cutoffs generalized from recent studies that are the subject of ongoing controversy. Further compounding this controversy is the fact that the vast majority of aneurysms that come to clinical attention at the time of a hemorrhagic presentation are of smaller size, suggesting that small aneurysms are indeed not benign lesions. As such, patient-specific biomarkers that better predict which aneurysms represent high-risk lesions that warrant clinical intervention are of vital importance. Recent advancements in genomic and proteomic technologies have enabled the identification of molecular characteristics that may prove useful in tracking aneurysm growth and progression and identifying targets for prophylactic therapeutic interventions. Novel quantitative neuroimaging

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

    McHugh, Hugh Marshall; Walker, Simon Thomas

    2015-12-01

    In this paper, we outline a framework for understanding the different kinds of knowledge required for medical practice and use this framework to show how scientism undermines aspects of this knowledge. The framework is based on Michael Polanyi's claim that knowledge is primarily the product of the contemplations and convictions of persons and yet at the same time carries a sense of universality because it grasps at reality. Building on Polanyi's ideas, we propose that knowledge can be described along two intersecting "dimensions": the tacit-explicit and the particular-general. These dimensions supersede the familiar "objective-subjective" dichotomy, as they more accurately describe the relationship between medical science and medical practice. Scientism, we argue, excludes tacit and particular knowledge and thereby distorts "clinical reality" and impairs medical practice and medical ethics. PMID:26615541

  2. The Importance of Functional Tests in Personalized Medicine

    PubMed Central

    Widmer, R. Jay; Lerman, Amir

    2013-01-01

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

  3. Tailoring the Treatment of Melanoma: Implications for Personalized Medicine

    PubMed Central

    Duan, Linna; Mukherjee, Eric M.; Narayan, Deepak

    2015-01-01

    Oncology has been revolutionized by the ability to selectively inhibit the growth of cancerous cells while ostensibly avoiding the disruption of proteins and pathways necessary for normal cellular function. This paradigm has triggered an explosion of targeted therapies for cancer, creating a burgeoning billion-dollar industry of small molecules and monoclonal antibodies [1]. Largely due to these new treatments, spending on cancer pharmaceuticals has surpassed $100 billion worldwide [2]. In particular, the treatment of melanoma, a deadly and fast-spreading form of skin cancer, has been transformed by these new targeted therapies. In this mini-review, we summarize the progress made in the field of personalized treatment of melanoma, with an emphasis on targeted therapies. We then outline future directions for treatment, including novel cell-mediated therapies and new potential targets. PMID:26604863

  4. On the safety of persons accompanying nuclear medicine patients.

    PubMed

    Díaz Barreto, Marlenin; López Bejerano, Gladys M; Varela Corona, Consuelo; Fleitas Estévez, Ileana

    2012-12-01

    The presence of caretakers/comforters during nuclear medicine examinations is relatively common. These caretakers receive higher doses than the general public, who receive only environmental/background exposure. The aim of this research was to know about the doses received by two significant groups of caretakers: comforters of cancer patients (Group I) and mothers of small children (Group II). The patients were scheduled to undergo two different diagnostic studies: Inmuno-Scintigraphy using a monoclonal antibody bound to (99m)Tc (for adults) and Renal Scintigraphy using (99m)Tc-dimercaptosuccinic acid (for children). The average effective doses were 0.27 and 0.29 mSv for Groups I and II, respectively. Additionally, environmental monitoring was performed in the waiting room for injected patients (Room I) and inside the procedure room (Room II). Equivalent environmental doses of 0.28 and 0.24 mSv for Rooms 1 and II, respectively, were found, which are similar to values reported by other authors. PMID:22517979

  5. Going MAD: development of a "matrix academic division" to facilitate translating research to personalized medicine.

    PubMed

    Whitcomb, David C

    2011-11-01

    Personalized medicine integrates an individual's genetic and other information for the prevention or treatment of complex disorders, and translational research seeks to identify those data most important to disease processes based on observations at the bench and the bedside. To understand complex disorders such as chronic pancreatitis, inflammatory bowel disease, liver cirrhosis, and other idiopathic chronic inflammatory diseases, physician-scientists must systematically collect data on relevant risks, clinical status, biomarkers, and outcomes. The author describes a "matrix academic division" (MAD), a highly effective academic program created at the University of Pittsburgh School of Medicine and the University of Pittsburgh Medical Center using translational research to rapidly develop personalized medicine for digestive diseases. MAD is designed to capture patient-specific data and biologic samples for analysis of steps in a complex process (reverse engineering), reconstructing the system conceptually and mathematically (disease modeling), and deciphering disease mechanism in individual patients to predict the effects of interventions (personalized medicine). MAD draws on the expertise of the medical school's and medical center's physician-scientists to translate essential disease information between the bed and the bench and to communicate with researchers from multiple domains, including epidemiology, genetics, cell biology, immunology, regenerative medicine, neuroscience, and oncology. The author illustrates this approach by describing its successful application to the reverse engineering of chronic pancreatitis. PMID:21952059

  6. Precision medicine at Memorial Sloan Kettering Cancer Center: clinical next-generation sequencing enabling next-generation targeted therapy trials.

    PubMed

    Hyman, David M; Solit, David B; Arcila, Maria E; Cheng, Donavan T; Sabbatini, Paul; Baselga, Jose; Berger, Michael F; Ladanyi, Marc

    2015-12-01

    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

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

    PubMed Central

    Caprioli, Richard M.

    2015-01-01

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

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

    NASA Astrophysics Data System (ADS)

    Caprioli, Richard M.

    2015-06-01

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

  9. Personalized peer-comparison feedback and its effect on emergency medicine resident ultrasound scan numbers

    PubMed Central

    2014-01-01

    Background 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. Findings 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. Conclusions 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. PMID:24422791

  10. The Translational Medicine Ontology and Knowledge Base: driving personalized medicine by bridging the gap between bench and bedside

    PubMed Central

    2011-01-01

    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

  11. Next-generation biobanking of metastases to enable multidimensional molecular profiling in personalized medicine.

    PubMed

    Diaz, Zuanel; Aguilar-Mahecha, Adriana; Paquet, Eric R; Basik, Mark; Orain, Michèle; Camlioglu, Errol; Constantin, André; Benlimame, Naciba; Bachvarov, Dimcho; Jannot, Guillaume; Simard, Martin J; Chabot, Benoit; Gologan, Adrian; Klinck, Roscoe; Gagnon-Kugler, Thérèse; Lespérance, Bernard; Samson, Benoit; Kavan, Petr; Alcindor, Thierry; Dalfen, Richard; Lan, Cathy; Chabot, Catherine; Buchanan, Marguerite; Przybytkowski, Ewa; Qureshi, Samia; Rousseau, Caroline; Spatz, Alan; Têtu, Bernard; Batist, Gerald

    2013-11-01

    Great advances in analytical technology coupled with accelerated new drug development and growing understanding of biological challenges, such as tumor heterogeneity, have required a change in the focus for biobanking. Most current banks contain samples of primary tumors, but linking molecular signatures to therapeutic questions requires serial biopsies in the setting of metastatic disease, next-generation of biobanking. Furthermore, an integration of multidimensional analysis of various molecular components, that is, RNA, DNA, methylome, microRNAome and post-translational modifications of the proteome, is necessary for a comprehensive view of a tumor's biology. While data using such biopsies are now regularly presented, the preanalytical variables in tissue procurement and processing in multicenter studies are seldom detailed and therefore are difficult to duplicate or standardize across sites and across studies. In the context of a biopsy-driven clinical trial, we generated a detailed protocol that includes morphological evaluation and isolation of high-quality nucleic acids from small needle core biopsies obtained from liver metastases. The protocol supports stable shipping of samples to a central laboratory, where biopsies are subsequently embedded in support media. Designated pathologists must evaluate all biopsies for tumor content and macrodissection can be performed if necessary to meet our criteria of >60% neoplastic cells and <20% necrosis for genomic isolation. We validated our protocol in 40 patients who participated in a biopsy-driven study of therapeutic resistance in metastatic colorectal cancer. To ensure that our protocol was compatible with multiplex discovery platforms and that no component of the processing interfered with downstream enzymatic reactions, we performed array comparative genomic hybridization, methylation profiling, microRNA profiling, splicing variant analysis and gene expression profiling using genomic material isolated from liver biopsy cores. Our standard operating procedures for next-generation biobanking can be applied widely in multiple settings, including multicentered and international biopsy-driven trials. PMID:23743930

  12. CTC enumeration and characterization: moving toward personalized medicine

    PubMed Central

    Toss, Angela; Mu, Zhaomei; Fernandez, Sandra

    2014-01-01

    The primary cause of tumor-related death in breast cancer (BC) is still represented by distant metastasization. The dissemination of tumor cells from the primary tumor to distant sites through bloodstream cannot be early detected by standard imaging methods. The enumeration of circulating tumor cells (CTCs) represents an effective prognostic and predictive biomarker, which is able to monitor efficacy of adjuvant therapies, detect early development of (micro)metastases and at last, assess therapeutic responses of advanced disease earlier than traditional imaging methods. Moreover, since repeated tissue biopsies are invasive, costly and not always feasible, the assessment of tumor characteristics on CTCs, by a peripheral blood sample as a ‘liquid biopsy’, represents an attractive opportunity. The implementation of molecular and genomic characterization of CTCs could contribute to improve the treatment selection and thus, to move toward more personalized treatments. This review describes the current state of the art on CTC detection strategies, the evidence to demonstrate their clinical validity, and their potential impact for both future clinical trial design and, decision-making process in our daily practice. PMID:25489582

  13. Personalizing medicine for metastatic colorectal cancer: Current developments

    PubMed Central

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

    2014-01-01

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

  14. Genetics and vaccines in the era of personalized medicine.

    PubMed

    Castiblanco, John; Anaya, Juan-Manuel

    2015-02-01

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

  15. Genetics and Vaccines in the Era of Personalized Medicine

    PubMed Central

    Castiblanco, John; Anaya, Juan-Manuel

    2015-01-01

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

  16. The oral microbiome in health and disease and the potential impact on personalized dental medicine.

    PubMed

    Zarco, M F; Vess, T J; Ginsburg, G S

    2012-03-01

    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. PMID:21902769

  17. Structured Decision-Making: Using Personalized Medicine to Improve the Value of Cancer Care

    PubMed Central

    Hirsch, Bradford R.; Abernethy, Amy P.

    2012-01-01

    Cancer care is often inconsistently delivered with inadequate incorporation of patient values and objective evidence into decision-making. Utilization of time limited trials of care with predefined decision points that are based on iteratively updated best evidence, tools that inform providers about a patient’s experience and values, and known information about a patient’s disease will allow superior matched care to be delivered. Personalized medicine does not merely refer to the incorporation of genetic information into clinical care, it involves utilization of the wide array of data points relevant to care, many of which are readily available at the bedside today. By pushing uptake of personalized matching available today, clinicians can better address the triple aim of improved health, lowers costs, and enhanced patient experience, and we can prepare the health care landscape for the iterative inclusion of progressively more sophisticated information as newer tests and information become available to support the personalized medicine paradigm. PMID:25562407

  18. Golden Helix Institute of Biomedical Research: Interdisciplinary research and educational activities in pharmacogenomics and personalized medicine

    PubMed Central

    Mitropoulos, Konstantinos; Innocenti, Federico; van Schaik, Ron H.; Lezhava, Alexander; Tzimas, Giannis; Kollia, Panagoula; Macek, Milan; Fortina, Paolo; Patrinos, George P.

    2013-01-01

    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

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

    PubMed Central

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

    2015-01-01

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

  20. Biologic efficacy optimization-a step towards personalized medicine.

    PubMed

    Kiely, Patrick D W

    2016-05-01

    This following is a review of the factors that influence the outcome of biologic agents in the treatment of adult RA and, when synthesized into the clinical decision-making process, enhance optimization. Adiposity can exacerbate inflammatory diseases; patients with high BMI have worse outcomes from RA, including TNF inhibitors (TNFis), whereas the efficacy of abatacept and tocilizumab is unaffected. Smoking adversely affects TNFi outcomes but has less or no effect on the efficacy of rituximab and tocilizumab, and the effect on abatacept is unknown. Patients who are positive for ACPA and RF have better efficacy with rituximab and abatacept than those who are seronegative, whereas the influence of serotype is less significant for tocilizumab and more complex for TNFis. All biologics seem to do better when co-prescribed with MTX, whereas in monotherapy, tocilizumab is superior to adalimumab and prescription of a non-MTX DMARD has advantages over no DMARD for rituximab and adalimumab. Monitoring of TNFi drug levels is an exciting new field, correlating closely with efficacy in RA and PsA, and is influenced by BMI, adherence, co-prescribed DMARDs and anti-drug antibodies. The measurement of trough levels provides a potential tool for patients who are not doing well to determine early whether to switch within the TNFi class (if levels are low) or to a biologic with an alternative mode of action (if levels are normal or high). Conversely, the finding of supratherapeutic levels has the potential to enable individual patient selection for dose reduction without the risk of flare. PMID:26424837

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

    PubMed Central

    So, Derek; Joly, Yann

    2013-01-01

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

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

    PubMed

    So, Derek; Joly, Yann

    2013-06-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2016-02-01

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

  5. Traditional, complementary and alternative medical systems and their contribution to personalisation, prediction and prevention in medicine-person-centred medicine.

    PubMed

    Roberti di Sarsina, Paolo; Alivia, Mauro; Guadagni, Paola

    2012-01-01

    Traditional, complementary and alternative medical (TCAM) systems contribute to the foundation of person-centred medicine (PCM), an epistemological orientation for medical science which places the person as a physical, psychological and spiritual entity at the centre of health care and of the therapeutic process. PCM wishes to broaden the bio-molecular reductionistic approach of medical science towards an integration that allows people, doctors, nurses, health-care professionals and patients to become the real protagonists of the health-care scene. The doctor or caregiver needs to act out of empathy to meet the unique value of each human being, which unfolds over the course of a lifetime from conception to natural death. Knowledge of the human being should not be instrumental to economic or political interests, ideology, theories or religious dogma. Research needs to be broadened with methodological tools to investigate person-centred medical interventions. Salutogenesis is a fundamental principle of PCM, promoting health and preventing illness by strengthening the individual's self-healing abilities. TCAM systems also give tools to predict the insurgence of illness and treat it before the appearance of overt organic disease. A task of PCM is to educate people to take better care of their physical, psychological and spiritual health. Health-care education needs to be broadened to give doctors and health-care workers of the future the tools to act in innovative and highly differentiated ways, always guided by deep respect for individual autonomy, personal culture, religion and beliefs. PMID:23126628

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

    PubMed Central

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

    2014-01-01

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

  7. CellCAN: a unique enabler of regenerative medicine and cell therapy in Canada.

    PubMed

    Roy, Denis-Claude; Alarco, Anne-Marie; Isasi, Rosario

    2014-12-01

    Regenerative Medicine and Cell Therapy (RMCT) is paving the way for the most innovative and promising medical breakthroughs of the 21st century. Indeed, its curative potential is immense and builds on the already proven benefits of stem cell transplantation. Successful and broad clinical implementation of RMCT, as well as reaping of its full social and economic benefits, is contingent on the resolution of a range of issues. The CellCAN network, a not-for-profit corporation, was created to tackle these challenges, gathering the key forces of the numerous Canadian organizations involved in basic research, assay development, manufacturing, clinical research, clinical trials, legal and ethical regulations, and policies, all working to move RMCT forward. CellCAN creates a national enterprise by bringing together a community of renowned researchers, industries, clinicians, funders and regulators, and aligning it with cell-handling facilities involved in processing cell products and other products for cell therapy clinical trials to ensure capacity and know-how for stem cell research and efficient execution of cell therapy clinical trials. CellCAN is uniquely positioned to accelerate the implementation of RMCT in Canada and disseminate novel developments and findings, thus significantly contributing to the world's knowledge in cellular therapeutics. As such, the CellCAN model could also serve as a useful benchmark to accelerate RMCT implementation in other countries. PMID:25457957

  8. Applications of Two-Photon Absorption in Medicine and Biology Enabled by Specially Designed Biological Molecules

    NASA Astrophysics Data System (ADS)

    Drobizhev, M.

    2008-05-01

    We quantitatively study how the two-photon absorption (2PA) properties of biological molecules depend on their structure. 2PA is advantageous over regular one-photon absorption because of deeper penetration and more localized excitation in biological tissues. However, 2PA cross sections of biological chromophores are usually rather small to be useful in real life applications. Using quantum-mechanical few-level description of molecular electronic states, we interpret our data and predict new structures with considerably increased 2PA cross sections. These new materials either synthesized or genetically engineered make 2PA-based techniques applicable in medicine and biology. We show how our new porphyrin photosensitizers with drastically enhanced 2PA (˜1000 times compared to regular porphyrins) can be used for in vivo two-photon-induced closing of blood vessels in Age-Related Macular Degeneration. The second example describes the application of fluorescent proteins in two-photon laser microscopy of biological cells. We demonstrate how the 2PA properties of fluorescent proteins can be considerably improved by smart mutations of the environment of chromophore inside the protein.

  9. Personalized Medicine Based on Theranostic Radioiodine Molecular Imaging for Differentiated Thyroid Cancer

    PubMed Central

    2016-01-01

    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. PMID:27239470

  10. Personalized Medicine Based on Theranostic Radioiodine Molecular Imaging for Differentiated Thyroid Cancer.

    PubMed

    Ahn, Byeong-Cheol

    2016-01-01

    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. PMID:27239470

  11. Impact of personal goals on the internal medicine R4 subspecialty match: a Q methodology study

    PubMed Central

    2013-01-01

    Background There has been a decline in interest in general internal medicine that has resulted in a discrepancy between internal medicine residents’ choice in the R4 subspecialty match and societal need. Few studies have focused on the relative importance of personal goals and their impact on residents’ choice. The purpose of this study was to assess if internal medicine residents can be grouped based on their personal goals and how each group prioritizes these goals compared to each other. A secondary objective was to explore whether we could predict a resident’s desired subspecialty choice based on their constellation of personal goals. Methods We used Q methodology to examine how postgraduate year 1–3 internal medicine residents could be grouped based on their rankings of 36 statements (derived from our previous qualitative study). Using each groups’ defining and distinguishing statements, we predicted their subspecialties of interest. We also collected the residents’ first choice in the subspecialty match and used a kappa test to compare our predicted subspecialty group to the residents’ self-reported first choice. Results Fifty-nine internal medicine residents at the University of Alberta participated between 2009 and 2010 with 46 Q sorts suitable for analysis. The residents loaded onto four factors (groups) based on how they ranked statements. Our prediction of each groups’ desired subspecialties with their defining and/or distinguishing statements are as follows: group 1 – general internal medicine (variety in practice); group 2 – gastroenterology, nephrology, and respirology (higher income); group 3 – cardiology and critical care (procedural, willing to entertain longer training); group 4 – rest of subspecialties (non-procedural, focused practice, and valuing more time for personal life). There was moderate agreement (kappa = 0.57) between our predicted desired subspecialty group and residents’ self-reported first choice (p < 0

  12. The promise and challenge of personalized medicine: aging populations, complex diseases, and unmet medical need.

    PubMed

    Henney, Adriano M

    2012-06-01

    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

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

    PubMed

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

    2015-10-13

    Over the past decade, personalized medicine has received considerable attention from researchers, drug developers, and regulatory agencies. Personalized medicine includes identifying patients most likely to benefit and those most likely to experience adverse reactions in response to a drug, and tailoring therapy based on pharmacokinetics or pharmacodynamic response, as well. Perhaps most exciting is finding ways to identify likely responders through genetic, proteomic, or other tests, so that only likely responders will be treated. However, less precise methods such as identifying historical, demographic, or other indicators of increased or reduced responsiveness are also important aspects of personalized medicine. The cardiovascular field has not used many genetic or proteomic markers, but has regularly used prognostic variables to identify likely responders. The development of biomarker-based approaches to personalized medicine in cardiovascular disease has been challenging, in part, because most cardiovascular therapies treat acquired syndromes, such as acute coronary syndrome and heart failure, which develop over many decades and represent the end result of several pathophysiological mechanisms. More precise disease classification and greater understanding of individual variations in disease pathology could drive the development of targeted therapeutics. Success in designing clinical trials for personalized medicine will require the selection of patient populations with attributes that can be targeted or that predict outcome, and the use of appropriate enrichment strategies once such attributes are identified. Here, we describe examples of personalized medicine in cardiovascular disease, discuss its impact on clinical trial design, and provide insight into the future of personalized cardiovascular medicine from a regulatory perspective. PMID:26459078

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

    PubMed

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

    2014-12-01

    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. PMID:25148837

  15. [Individualized, personalized and stratified medicine: a challenge for allergology in ENT?].

    PubMed

    Chaker, Adam M; Klimek, L

    2015-05-01

    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. PMID:25940007

  16. Translating genetic discoveries to improvements in cardiovascular care: the path to personalized medicine.

    PubMed

    Hall, Jennifer L

    2008-03-01

    Research and development has provided us with several solutions to reduce morbidity and mortality of cardiovascular disease. More solutions are anticipated in the areas of clinical medicine, personal handheld devices, and DNA technology that will continue to enhance the era of personalized medicine. Genome-wide association studies have recently identified genetic variants on chromosome 9 (interval 9p21) and chromosome 4 (4q25) that confer increased risk for myocardial infarction and atrial fibrillation, respectively. The regions on these chromosomes containing the SNPs associated with disease contain no known genes - creating a challenge for scientists. Unraveling the code on these chromosomes may reveal a deeper insight into the mechanisms underlying disease and the design of new therapeutics to prevent or slow the progression of the disease. PMID:20559956

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

    PubMed Central

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

    2013-01-01

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

  18. Multimodal pain management and the future of a personalized medicine approach to pain.

    PubMed

    Manworren, Renee C B

    2015-03-01

    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. PMID:25707723

  19. A contact-lens-on-a-chip companion diagnostic tool for personalized medicine.

    PubMed

    Guan, Allan; Wang, Yi; Phillips, K Scott; Li, Zhenyu

    2016-04-01

    We present a novel, microfluidic platform that integrates human tears (1 μL) with commercial contact lens materials to provide personalized assessment of lens care solution performance. This device enabled the detection of significant differences in cleaning and disinfection outcomes between subjects and between biofilms vs. planktonic bacteria. PMID:26923038

  20. Autoantibodies, complement and type I interferon as biomarkers for personalized medicine in SLE.

    PubMed

    Biesen, R; Rose, T; Hoyer, B F; Alexander, T; Hiepe, F

    2016-07-01

    Systemic lupus erythematosus (SLE) can be a mysterious disease, presenting with extremely divergent clinical phenotypes. Already, biomarkers are very helpful tools for diagnosis, assessment and monitoring of disease activity, differential diagnosis of clinical manifestations, prediction of the disease course and stratified therapy, and they hold the key to personalized medicine in SLE. We summarize the clinical information that can only be supplied by autoantibodies, complement components and interferon biomarkers in this diverse disease. PMID:27252258

  1. From integrative disease modeling to predictive, preventive, personalized and participatory (P4) medicine

    PubMed Central

    2013-01-01

    With the significant advancement of high-throughput technologies and diagnostic techniques throughout the past decades, molecular underpinnings of many disorders have been identified. However, translation of patient-specific molecular mechanisms into tailored clinical applications remains a challenging task, which requires integration of multi-dimensional molecular and clinical data into patient-centric models. This task becomes even more challenging when dealing with complex diseases such as neurodegenerative disorders. Integrative disease modeling is an emerging knowledge-based paradigm in translational research that exploits the power of computational methods to collect, store, integrate, model and interpret accumulated disease information across different biological scales from molecules to phenotypes. We argue that integrative disease modeling will be an indispensable part of any P4 medicine research and development in the near future and that it supports the shift from descriptive to causal mechanistic diagnosis and treatment of complex diseases. For each ‘P’ in predictive, preventive, personalized and participatory (P4) medicine, we demonstrate how integrative disease modeling can contribute to addressing the real-world issues in development of new predictive, preventive, personalized and participatory measures. With the increasing recognition that application of integrative systems modeling is the key to all activities in P4 medicine, we envision that translational bioinformatics in general and integrative modeling in particular will continue to open up new avenues of scientific research for current challenges in P4 medicine. PMID:24195840

  2. An Integrative Pharmacogenomic Approach Identifies Two-drug Combination Therapies for Personalized Cancer Medicine

    PubMed Central

    Liu, Yin; Fei, Teng; Zheng, Xiaoqi; Brown, Myles; Zhang, Peng; Liu, X. Shirley; Wang, Haiyun

    2016-01-01

    An individual tumor harbors multiple molecular alterations that promote cell proliferation and prevent apoptosis and differentiation. Drugs that target specific molecular alterations have been introduced into personalized cancer medicine, but their effects can be modulated by the activities of other genes or molecules. Previous studies aiming to identify multiple molecular alterations for combination therapies are limited by available data. Given the recent large scale of available pharmacogenomic data, it is possible to systematically identify multiple biomarkers that contribute jointly to drug sensitivity, and to identify combination therapies for personalized cancer medicine. In this study, we used pharmacogenomic profiling data provided from two independent cohorts in a systematic in silico investigation of perturbed genes cooperatively associated with drug sensitivity. Our study predicted many pairs of molecular biomarkers that may benefit from the use of combination therapies. One of our predicted biomarker pairs, a mutation in the BRAF gene and upregulated expression of the PIM1 gene, was experimentally validated to benefit from a therapy combining BRAF inhibitor and PIM1 inhibitor in lung cancer. This study demonstrates how pharmacogenomic data can be used to systematically identify potentially cooperative genes and provide novel insights to combination therapies in personalized cancer medicine. PMID:26916442

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

    PubMed Central

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

    2013-01-01

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

  4. Just caring: assessing the ethical and economic costs of personalized medicine.

    PubMed

    Fleck, Leonard M

    2014-02-01

    Personalized medicine has been touted as a revolutionary form of cancer care. It has been portrayed as precision medicine, targeting with deadly accuracy cancer cells and sparing patients the debilitating broad-spectrum side effects of more traditional forms of cancer therapy. But personalized medicine still has its costs to patients and society, both moral and economic costs. How to recognize and address those issues will be the focus of this essay. We start with these questions: Does everyone faced with cancer have a moral right to the most effective cancer care available, no matter what the cost, no matter whether a particular individual has the personal ability to pay for that care or not? Or are there limits to the cancer care that anyone has a right to at social expense? If so, what are those limits and how are those limits to be determined? Are those limits a matter of both morality and economics? I will answer this last question in the affirmative. This is what I refer to as the "Just Caring" problem in health care. PMID:24445288

  5. An Integrative Pharmacogenomic Approach Identifies Two-drug Combination Therapies for Personalized Cancer Medicine.

    PubMed

    Liu, Yin; Fei, Teng; Zheng, Xiaoqi; Brown, Myles; Zhang, Peng; Liu, X Shirley; Wang, Haiyun

    2016-01-01

    An individual tumor harbors multiple molecular alterations that promote cell proliferation and prevent apoptosis and differentiation. Drugs that target specific molecular alterations have been introduced into personalized cancer medicine, but their effects can be modulated by the activities of other genes or molecules. Previous studies aiming to identify multiple molecular alterations for combination therapies are limited by available data. Given the recent large scale of available pharmacogenomic data, it is possible to systematically identify multiple biomarkers that contribute jointly to drug sensitivity, and to identify combination therapies for personalized cancer medicine. In this study, we used pharmacogenomic profiling data provided from two independent cohorts in a systematic in silico investigation of perturbed genes cooperatively associated with drug sensitivity. Our study predicted many pairs of molecular biomarkers that may benefit from the use of combination therapies. One of our predicted biomarker pairs, a mutation in the BRAF gene and upregulated expression of the PIM1 gene, was experimentally validated to benefit from a therapy combining BRAF inhibitor and PIM1 inhibitor in lung cancer. This study demonstrates how pharmacogenomic data can be used to systematically identify potentially cooperative genes and provide novel insights to combination therapies in personalized cancer medicine. PMID:26916442

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

    PubMed Central

    Kichko, Kateryna; Marschall, Paul; Flessa, Steffen

    2016-01-01

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

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

    PubMed

    Kichko, Kateryna; Marschall, Paul; Flessa, Steffen

    2016-01-01

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

  8. Asthma pharmacogenetics and the development of genetic profiles for personalized medicine

    PubMed Central

    Ortega, Victor E; Meyers, Deborah A; Bleecker, Eugene R

    2015-01-01

    Human genetics research will be critical to the development of genetic profiles for personalized or precision medicine in asthma. Genetic profiles will consist of gene variants that predict individual disease susceptibility and risk for progression, predict which pharmacologic therapies will result in a maximal therapeutic benefit, and predict whether a therapy will result in an adverse response and should be avoided in a given individual. Pharmacogenetic studies of the glucocorticoid, leukotriene, and β2-adrenergic receptor pathways have focused on candidate genes within these pathways and, in addition to a small number of genome-wide association studies, have identified genetic loci associated with therapeutic responsiveness. This review summarizes these pharmacogenetic discoveries and the future of genetic profiles for personalized medicine in asthma. The benefit of a personalized, tailored approach to health care delivery is needed in the development of expensive biologic drugs directed at a specific biologic pathway. Prior pharmacogenetic discoveries, in combination with additional variants identified in future studies, will form the basis for future genetic profiles for personalized tailored approaches to maximize therapeutic benefit for an individual asthmatic while minimizing the risk for adverse events. PMID:25691813

  9. Impact of the US Patent System on the promise of personalized medicine.

    PubMed

    Solomon, Louis M; Sieczkiewicz, Gregory J

    2007-09-01

    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. PMID:18022586

  10. Ontology-Driven Monitoring of Patient's Vital Signs Enabling Personalized Medical Detection and Alert

    PubMed Central

    Hristoskova, Anna; Sakkalis, Vangelis; Zacharioudakis, Giorgos; Tsiknakis, Manolis; De Turck, Filip

    2014-01-01

    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