Download or read book Systems for Research and Evaluation for Translating Genome Based Discoveries for Health written by Institute of Medicine and published by National Academies Press. This book was released on 2009-11-10 with total page 103 pages. Available in PDF, EPUB and Kindle. Book excerpt: With the advent of genome-wide association studies, numerous associations between specific gene loci and complex diseases have been identified-for breast cancer, coronary artery disease, and asthma, for example. This rapidly advancing field of genomics has stirred great interest in "personalized" health care from both the public and private sectors. The hope is that using genomic information in clinical care will lead to reduced health care costs and improved health outcomes as therapies are tailored to the genetic susceptibilities of patients. A variety of genetically based health care innovations have already reached the marketplace, but information about the clinical use of these treatments and diagnostics is limited. Currently data do not provide information about how a genomic test impacts clinical care and patient health outcomes-other approaches are needed to garner such information. This volume summarizes a workshop to address central questions related to the development of systems to evaluate clinical use of health care innovations that stem from genome-based research: What are the practical realities of creating such systems? What different models could be used? What are the strengths and weaknesses of each model? How effectively can such systems address questions about health outcomes?
Download or read book Systems for Research and Evaluation for Translating Genome Based Discoveries for Health written by Institute of Medicine and published by National Academies Press. This book was released on 2009-12-10 with total page 102 pages. Available in PDF, EPUB and Kindle. Book excerpt: With the advent of genome-wide association studies, numerous associations between specific gene loci and complex diseases have been identified-for breast cancer, coronary artery disease, and asthma, for example. This rapidly advancing field of genomics has stirred great interest in "personalized" health care from both the public and private sectors. The hope is that using genomic information in clinical care will lead to reduced health care costs and improved health outcomes as therapies are tailored to the genetic susceptibilities of patients. A variety of genetically based health care innovations have already reached the marketplace, but information about the clinical use of these treatments and diagnostics is limited. Currently data do not provide information about how a genomic test impacts clinical care and patient health outcomes-other approaches are needed to garner such information. This volume summarizes a workshop to address central questions related to the development of systems to evaluate clinical use of health care innovations that stem from genome-based research: What are the practical realities of creating such systems? What different models could be used? What are the strengths and weaknesses of each model? How effectively can such systems address questions about health outcomes?
Download or read book Diffusion and Use of Genomic Innovations in Health and Medicine written by Institute of Medicine and published by National Academies Press. This book was released on 2008-06-18 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt: Until fairly recently, genetic information was used primarily in the diagnosis of relatively rare genetic diseases, such as cystic fibrosis and Huntington's Disease, but a transformation in the use of genetic and genomic information is underway. While many predictions have been made that genomics will transform medicine, to date few of these promising discoveries have resulted in actual applications in medicine and health. The Institute of Medicine's Roundtable on Translating Genomic-Based Research for Health, established in 2007, held its first workshop to address the following questions: 1. Are there different pathways by which new scientific findings move from the research setting into health care? 2. If so, what are the implications of those different pathways for genomics? 3. What can we learn from the translation of other new technologies as we seek to understand the translation of genome science into health care? Information obtained from the workshop was then used to further discussion and exploration of the answers to these questions. This book summarizes speaker presentations and discussions. Any conclusions reported should not be construed as reflecting a group consensus; rather they are the statements and opinions of presenters and participants.
Download or read book Genetic Epidemiology written by Melissa A. Austin and published by CABI. This book was released on 2013 with total page 223 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic epidemiology plays a key role in discovering genetic factors influencing health and disease, and in understanding how genes and environmental risk factors interact. There is growing interest in this field within public health, with the goal of translating the results into promoting health and preventing disease in both families and populations. This textbook provides graduate students with a working knowledge of genetic epidemiology research methods. Following an overview of the field, the book reviews key genetic concepts, provides an update on relevant genomic technology, including genome-wide chips and DNA sequencing, and describes methods for assessing the magnitude of genetic influences on diseases and risk factors. The book focuses on research study designs for discovering disease susceptibility genes, including family-based linkage analysis, candidate gene and genome-side association studies, assessing gene-environment interactions and epistasis, studies of Non-Mendelian inheritance, and statistical analyses of data from these studies. Specific applications of each research method are illustrated using a variety of diseases and risk factors relevant to public health, and useful web-based genetic analysis software, human reference panels, and repositories, that can greatly facilitate this work, are described.
Download or read book Assessing Genomic Sequencing Information for Health Care Decision Making written by Institute of Medicine and published by National Academies Press. This book was released on 2014-08-19 with total page 126 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rapid advances in technology have lowered the cost of sequencing an individual's genome from the several billion dollars that it cost a decade ago to just a few thousand dollars today and have correspondingly greatly expanded the use of genomic information in medicine. Because of the lack of evidence available for assessing variants, evaluation bodies have made only a few recommendations for the use of genetic tests in health care. For example, organizations, such as the Evaluation of Genomic Applications in Practice and Prevention working group, have sought to set standards for the kinds of evaluations needed to make population-level health decisions. However, due to insufficient evidence, it has been challenging to recommend the use of a genetic test. An additional challenge to using large-scale sequencing in the clinic is that it may uncover "secondary," or "incidental," findings - genetic variants that have been associated with a disease but that are not necessarily related to the conditions that led to the decision to use genomic testing. Furthermore, as more genetic variants are associated with diseases, new information becomes available about genomic tests performed previously, which raises issues about how and whether to return this information to physicians and patients and also about who is responsible for the information. To help develop a better understanding of how genomic information is used for healthcare decision making, the Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine held a workshop in Washington,DC in February 2014. Stakeholders, including clinicians, researchers, patients, and government officials, discussed the issues related to the use of genomic information in medical practice. Assessing Genomic Sequencing Information for Health Care Decision Making is the summary of that workshop. This report compares and contrasts evidence evaluation processes for different clinical indications and discusses key challenges in the evidence evaluation process.
Download or read book Genomics Enabled Learning Health Care Systems written by Institute of Medicine and published by National Academies Press. This book was released on 2015-07-08 with total page 105 pages. Available in PDF, EPUB and Kindle. Book excerpt: The inclusion of genomic data in a knowledge-generating health care system infrastructure is one promising way to harness the full potential of that information to provide better patient care. In such a system, clinical practice and research influence each other with the goal of improving the efficiency and effectiveness of disease prevention, diagnosis, and treatment. To examine pragmatic approaches to incorporating genomics in learning health care systems, the Institute of Medicine Roundtable on Translating Genomic-Based Research for Health hosted a workshop which convened a variety of stakeholder groups, including commercial developers, health information technology professionals, clinical providers, academic researchers, patient groups, and government and health system representatives, to present their perspectives and participate in discussions on maximizing the value that can be obtained from genomic information. The workshop examined how a variety of systems are capturing and making use of genomic data to generate knowledge for advancing health care in the 21st century. It also sought to evaluate the challenges, opportunities, and best practices for capturing or using genomic information in knowledge-generating health care systems. Genomics-Enabled Learning Health Care Systems summarizes the presentations and discussion of the workshop.
Download or read book Diffusion and Use of Genomic Innovations in Health and Medicine written by Roundtable on Translating Genomic-Based Research for Health and published by . This book was released on 2008-06-18 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt: Until fairly recently, genetic information was used primarily in the diagnosis of relatively rare genetic diseases, such as cystic fibrosis and Huntington's Disease, but a transformation in the use of genetic and genomic information is underway. While many predictions have been made that genomics will transform medicine, to date few of these promising discoveries have resulted in actual applications in medicine and health. The Institute of Medicine's Roundtable on Translating Genomic-Based Research for Health, established in 2007, held its first workshop to address the following questions: 1. Are there different pathways by which new scientific findings move from the research setting into health care? 2. If so, what are the implications of those different pathways for genomics? 3. What can we learn from the translation of other new technologies as we seek to understand the translation of genome science into health care? Information obtained from the workshop was then used to further discussion and exploration of the answers to these questions. This book summarizes speaker presentations and discussions. Any conclusions reported should not be construed as reflecting a group consensus; rather they are the statements and opinions of presenters and participants.
Download or read book Genome Based Therapeutics written by Institute of Medicine and published by National Academies Press. This book was released on 2012-11-21 with total page 89 pages. Available in PDF, EPUB and Kindle. Book excerpt: The number of new drug approvals has remained reasonably steady for the past 50 years at around 20 to 30 per year, while at the same time the total spending on health-related research and development has tripled since 1990. There are many suspected causes for this trend, including increases in regulatory barriers, the rising costs of scientific inquiry, a decrease in research and development efficiency, the downstream effects of patient expirations on investment, and the lack of production models that have successfully incorporated new technology. Regardless, this trajectory is not economically sustainable for the businesses involved, and, in response, many companies are turning toward collaborative models of drug development, whether with other industrial firms, academia, or government. Introducing greater efficiency and knowledge into these new models and aligning incentives among participants may help to reverse the trends highlighted above, while producing more effective drugs in the process. Genome-Based Therapeutics explains that new technologies have the potential to open up avenues of development and to identify new drug targets to pursue. Specifically, improved validation of gene-disease associations through genomics research has the potential to revolutionize drug production and lower development costs. Genetic information has helped developers by increasing their understanding of the mechanisms of disease as well as individual patients' reactions to their medications. There is a need to identify the success factors for the various models that are being developed, whether they are industry-led, academia-led, or collaborations between the two. Genome-Based Therapeutics summarizes a workshop that was held on March 21, 2012, titled New Paradigms in Drug Discovery: How Genomic Data Are Being Used to Revolutionize the Drug Discovery and Development Process. At this workshop the goal was to examine the general approaches being used to apply successes achieved so far, and the challenges ahead.
Download or read book Innovations in Service Delivery in the Age of Genomics written by Institute of Medicine and published by National Academies Press. This book was released on 2009-06-11 with total page 80 pages. Available in PDF, EPUB and Kindle. Book excerpt: New discoveries in genomics-that is, the study of the entire human genome-are changing how we diagnose and treat diseases. As the trend shifts from genetic testing largely being undertaken for rare genetic disorders to, increasingly, individuals being screened for common diseases, general practitioners, pediatricians, obstetricians/gynecologists, and other providers need to be knowledgeable about and comfortable using genetic information to improve their patients' health. To address these changes, the Roundtable on Translating Genomic-Based Research for Health held the public workshop "Innovations in Service Delivery in the Age of Genomics" on July 27, 2008.
Download or read book Genomic and Precision Medicine written by Geoffrey S. Ginsburg and published by Academic Press. This book was released on 2016-11-22 with total page 398 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomic and Precision Medicine: Translation and Implementation highlights the various points along the continuum from health to disease where genomic information is impacting clinical decision-making and leading to more personalization of health care. The book pinpoints the challenges, barriers, and solutions that have been, or are being, brought forward to enable translation of genome based technologies into health care. A variety of infrastructure (data systems and EMRs), policy (regulatory, reimbursement, privacy), and research (comparative effectiveness research, learning health system approaches) strategies are also discussed. Readers will find this volume to be an invaluable resource for the translational genomics and implementation science that is required to fully realize personalized health care. Provides a comprehensive volume on the translation and implementation of biology into health care provision Presents succinct commentary and key learning points that will assist readers with their local needs for translation and implementation Includes an up-to-date overview on major ‘translational events’ in genomic and personalized medicine, along with lessons learned
Download or read book Integrating Large Scale Genomic Information into Clinical Practice written by Institute of Medicine and published by National Academies Press. This book was released on 2012-03-06 with total page 112 pages. Available in PDF, EPUB and Kindle. Book excerpt: The initial sequencing of the human genome, carried out by an international group of experts, took 13 years and $2.7 billion to complete. In the decade since that achievement, sequencing technology has evolved at such a rapid pace that today a consumer can have his or her entire genome sequenced by a single company in a matter of days for less than $10,000, though the addition of interpretation may extend this timeframe. Given the rapid technological advances, the potential effect on the lives of patients, and the increasing use of genomic information in clinical care, it is important to address how genomics data can be integrated into the clinical setting. Genetic tests are already used to assess the risk of breast and ovarian cancers, to diagnose recessive diseases such as cystic fibrosis, to determine drug dosages based on individual patient metabolism, and to identify therapeutic options for treating lung and breast tumors, melanoma, and leukemia. With these issues in mind and considering the potential impact that genomics information can have on the prevention, diagnosis, and treatment of disease, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop on July 19, 2011, to highlight and identify the challenges and opportunities in integrating large-scale genomic information into clinical practice. Integrating Large-Scale Genomic Information into Clinical Practice summarizes the speaker presentations and the discussions that followed them. This report focuses on several key topics, including the analysis, interpretation, and delivery of genomic information plus workforce, ethical, and legal issues.
Download or read book Genome Based Diagnostics written by Institute of Medicine and published by National Academies Press. This book was released on 2012-06-27 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: The sequencing of the human genome and the identification of associations between specific genetic variants and diseases have led to an explosion of genomic-based diagnostic tests. These tests have the potential to direct therapeutic interventions, predict risk or onset of disease, or detect residual disease. As research progresses and an increasing number of associations are found, further tests will be developed that can aid in providing personalized treatment options for patients. However, the adoption of genomic diagnostic tests by health care providers has been limited due to a lack of evidence regarding the clinical utility of many tests. Health funders and practitioners lack the data necessary to distinguish which tests can improve practice or the clinical settings in which tests will provide the greatest value. The Roundtable on Translating Genomic-Based Research for Health held a workshop in November 2010 to determine what evidence is needed and how it is viewed by different stakeholders in order to develop genomic diagnostic tests of clinical value. Genome-Based Diagnostics summarizes the presentations and discussions that took place throughout the workshop. Two presentations, in particular, sparked extensive discussion. One presentation proposed that all genomic diagnostic tests be reviewed and approved by the Food and Drug Administration. The other observed that venture capitalists are no longer investing substantially in the development of genomic diagnostic tests because of a lack of clarity surrounding regulatory and reimbursement pathways. Both presentations suggested the need for major changes in the systems used to develop, regulate, and reimburse genomic diagnostic tests. The report also presents the perspectives of different stakeholders in the development of genomic diagnostic tests. Each stakeholder group has a different set of needs and issues of importance, yet commonalities among them are apparent, such as the need to put patients and health outcomes at the center of discussion and action.
Download or read book Medical and Health Genomics written by Dhavendra Kumar and published by Academic Press. This book was released on 2016-06-04 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems
Download or read book Genomic Medicine written by Dhavendra Kumar and published by Oxford Monographs on Medical G. This book was released on 2014-10-15 with total page 853 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.
Download or read book The Economics of Genomic Medicine written by Institute of Medicine and published by National Academies Press. This book was released on 2013-06-20 with total page 129 pages. Available in PDF, EPUB and Kindle. Book excerpt: The sequencing of the human genome and the identification of links between specific genetic variants and diseases have led to tremendous excitement over the potential of genomics to direct patient treatment toward more effective or less harmful interventions. Still, the use of whole genome sequencing challenges the traditional model of medical care where a test is ordered only when there is a clear indication for its use and a path for downstream clinical action is known. This has created a tension between experts who contend that using this information is premature and those who believe that having such information will empower health care providers and patients to make proactive decisions regarding lifestyle and treatment options. In addition, some stakeholders are concerned that genomic technologies will add costs to the health care system without providing commensurate benefits, and others think that health care costs could be reduced by identifying unnecessary or ineffective treatments. Economic models are frequently used to anticipate the costs and benefits of new health care technologies, policies, and regulations. Economic studies also have been used to examine much more specific issues, such as comparing the outcomes and cost effectiveness of two different drug treatments for the same condition. These kinds of analyses offer more than just predictions of future health care costs. They provide information that is valuable when implementing and using new technologies. Unfortunately, however, these economic assessments are often limited by a lack of data on which to base the examination. This particularly affects health economics, which includes many factors for which current methods are inadequate for assessing, such as personal utility, social utility, and patient preference. To understand better the health economic issues that may arise in the course of integrating genomic data into health care, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop in Washington, DC, on July 17-18, 2012, that brought together economists, regulators, payers, biomedical researchers, patients, providers, and other stakeholders to discuss the many factors that may influence this implementation. The workshop was one of a series that the roundtable has held on this topic, but it was the first focused specifically on economic issues. The Economics of Genomic Medicine summarizes this workshop.
Download or read book Implications of Genomics for Public Health written by Institute of Medicine and published by National Academies Press. This book was released on 2005-07-27 with total page 98 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics is the study of the entire human genome. Genomics explores not only the actions of single genes, but also the interactions of multiple genes with each other and with the environment. As a result, genomics has great potential for improving the health of the public. However, realizing the benefits of genomics requires a systematic evaluation of its potential contributions and an understanding of the information necessary to facilitate the translation of research findings into public health strategies. In October 2004, the Institute of Medicine convened a workshop to discuss major scientific and policy issues related to genomics and public health, examine major supports for and challenges to the translation of genetic research into population health benefits, and suggest approaches for the integration of genomic information into strategies for promoting health and preventing disease. Implications of Genomics for Public Health summarizes the discussions and presentations from this workshop.
Download or read book Direct to Consumer Genetic Testing written by National Research Council and published by National Academies Press. This book was released on 2011-01-16 with total page 106 pages. Available in PDF, EPUB and Kindle. Book excerpt: Today, scores of companies, primarily in the United States and Europe, are offering whole genome scanning services directly to the public. The proliferation of these companies and the services they offer demonstrate a public appetite for this information and where the future of genetics may be headed; they also demonstrate the need for serious discussion about the regulatory environment, patient privacy, and other policy implications of direct-to-consumer (DTC) genetic testing. Rapid advances in genetic research already have begun to transform clinical practice and our understanding of disease progression. Existing research has revealed a genetic basis or component for numerous diseases, including Parkinson's disease, Alzheimer's disease, diabetes, heart disease, and several forms of cancer. The availability of the human genome sequence and the HapMap, plummeting costs of high-throughput screening, and increasingly sophisticated computational analyses have led to an explosion of discoveries of linkages between patterns of genetic variation and disease susceptibility. While this research is by no means a straight path toward better public health, improved knowledge of the genetic linkages has the potential to change fundamentally the way health professionals and public health practitioners approach the prevention and treatment of disease. Realizing this potential will require greater sophistication in the interpretation of genetic tests, new training for physicians and other diagnosticians, and new approaches to communicating findings to the public. As this rapidly growing field matures, all of these questions require attention from a variety of perspectives. To discuss some of the foregoing issues, several units of the National Academies held a workshop on August 31 and September 1, 2009, to bring together a still-developing community of professionals from a variety of relevant disciplines, to educate the public and policy-makers about this emerging field, and to identify issues for future study. The meeting featured several invited presentations and discussions on the many technical, legal, policy, and ethical questions that such DTC testing raises, including: (1) overview of the current state of knowledge and the future research trajectory; (2) shared genes and emerging issues in privacy; (3) the regulatory framework; and (4) education of the public and the medical community.
