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| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 103 |
| Release | : 2009-11-10 |
| Genre | : Medical |
| ISBN | : 0309147417 |
Download Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health Book in PDF, ePub and Kindle
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?
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 102 |
| Release | : 2009-12-10 |
| Genre | : Medical |
| ISBN | : 030913983X |
Download Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health Book in PDF, ePub and Kindle
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?
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 116 |
| Release | : 2008-06-18 |
| Genre | : Medical |
| ISBN | : 0309178312 |
Download Diffusion and Use of Genomic Innovations in Health and Medicine Book in PDF, ePub and Kindle
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.
| Author | : Melissa A. Austin |
| Publisher | : CABI |
| Total Pages | : 223 |
| Release | : 2013 |
| Genre | : Medical |
| ISBN | : 1780641818 |
Download Genetic Epidemiology Book in PDF, ePub and Kindle
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.
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 126 |
| Release | : 2014-08-19 |
| Genre | : Medical |
| ISBN | : 0309304970 |
Download Assessing Genomic Sequencing Information for Health Care Decision Making Book in PDF, ePub and Kindle
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.
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 116 |
| Release | : 2015-07-08 |
| Genre | : Medical |
| ISBN | : 0309371155 |
Download Genomics-Enabled Learning Health Care Systems Book in PDF, ePub and Kindle
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.
| Author | : Roundtable on Translating Genomic-Based Research for Health |
| Publisher | : |
| Total Pages | : 116 |
| Release | : 2008-06-18 |
| Genre | : |
| ISBN | : 9780309384070 |
Download Diffusion and Use of Genomic Innovations in Health and Medicine Book in PDF, ePub and Kindle
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.
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 89 |
| Release | : 2012-11-21 |
| Genre | : Medical |
| ISBN | : 0309260272 |
Download Genome-Based Therapeutics Book in PDF, ePub and Kindle
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.
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 80 |
| Release | : 2009-06-11 |
| Genre | : Medical |
| ISBN | : 0309132142 |
Download Innovations in Service Delivery in the Age of Genomics Book in PDF, ePub and Kindle
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.
| Author | : Geoffrey S. Ginsburg |
| Publisher | : Academic Press |
| Total Pages | : 398 |
| Release | : 2016-11-22 |
| Genre | : Science |
| ISBN | : 0128006560 |
Download Genomic and Precision Medicine Book in PDF, ePub and Kindle
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
