Systems For Research And Evaluation For Translating Genome Based Discoveries For Health

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Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health

Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Systems for Research and Evaluation for Translating Genome Based Discoveries for Health Book PDF

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 103 pages
File Size : 49,7 Mb
Release : 2009-11-10
Category : Medical
ISBN : 9780309147415

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Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

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?

Diffusion and Use of Genomic Innovations in Health and Medicine

Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Diffusion and Use of Genomic Innovations in Health and Medicine Book PDF

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 116 pages
File Size : 51,5 Mb
Release : 2008-07-18
Category : Medical
ISBN : 9780309116763

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Diffusion and Use of Genomic Innovations in Health and Medicine by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

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.

Genetic Epidemiology

Melissa A. Austin,Terri H. Beaty,W. David Dotson
Genetic Epidemiology Book PDF

Author : Melissa A. Austin,Terri H. Beaty,W. David Dotson
Publisher : CABI
Page : 223 pages
File Size : 46,7 Mb
Release : 2013
Category : Medical
ISBN : 9781780641812

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Genetic Epidemiology by Melissa A. Austin,Terri H. Beaty,W. David Dotson Pdf

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.

Diffusion and Use of Genomic Innovations in Health and Medicine

Roundtable on Translating Genomic-Based Research for Health,Board on Health Sciences Policy,Institute Of Medicine
Diffusion and Use of Genomic Innovations in Health and Medicine Book PDF

Author : Roundtable on Translating Genomic-Based Research for Health,Board on Health Sciences Policy,Institute Of Medicine
Publisher : Unknown
Page : 116 pages
File Size : 40,7 Mb
Release : 2008-06-18
Category : Electronic
ISBN : 0309384079

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Diffusion and Use of Genomic Innovations in Health and Medicine by Roundtable on Translating Genomic-Based Research for Health,Board on Health Sciences Policy,Institute Of Medicine Pdf

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.

Assessing Genomic Sequencing Information for Health Care Decision Making

Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Assessing Genomic Sequencing Information for Health Care Decision Making Book PDF

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 126 pages
File Size : 51,9 Mb
Release : 2014-08-19
Category : Medical
ISBN : 9780309304979

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Assessing Genomic Sequencing Information for Health Care Decision Making by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

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.

Genome-Based Therapeutics

Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Genome Based Therapeutics Book PDF

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 110 pages
File Size : 51,8 Mb
Release : 2012-11-21
Category : Medical
ISBN : 9780309260275

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Genome-Based Therapeutics by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

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.

Genomics-Enabled Learning Health Care Systems

Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Genomics Enabled Learning Health Care Systems Book PDF

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 116 pages
File Size : 51,6 Mb
Release : 2015-07-08
Category : Medical
ISBN : 9780309371155

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Genomics-Enabled Learning Health Care Systems by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

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.

Medical and Health Genomics

Dhavendra Kumar,Stylianos Antonarakis
Medical and Health Genomics Book PDF

Author : Dhavendra Kumar,Stylianos Antonarakis
Publisher : Academic Press
Page : 358 pages
File Size : 49,8 Mb
Release : 2016-06-04
Category : Science
ISBN : 9780127999227

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Medical and Health Genomics by Dhavendra Kumar,Stylianos Antonarakis Pdf

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

Genomic Medicine

Dhavendra Kumar,Charis Eng
Genomic Medicine Book PDF

Author : Dhavendra Kumar,Charis Eng
Publisher : Oxford Monographs on Medical G
Page : 853 pages
File Size : 42,5 Mb
Release : 2014-10-15
Category : Medical
ISBN : 9780199896028

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Genomic Medicine by Dhavendra Kumar,Charis Eng Pdf

Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Genome-Based Diagnostics

Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Genome Based Diagnostics Book PDF

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 104 pages
File Size : 48,5 Mb
Release : 2012-06-27
Category : Medical
ISBN : 9780309253970

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Genome-Based Diagnostics by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

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.

Clinical Molecular Medicine

Dhavendra Kumar
Clinical Molecular Medicine Book PDF

Author : Dhavendra Kumar
Publisher : Academic Press
Page : 607 pages
File Size : 46,5 Mb
Release : 2019-11-30
Category : Science
ISBN : 9780128094426

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Clinical Molecular Medicine by Dhavendra Kumar Pdf

Clinical Molecular Medicine: Principles and Practice presents the latest scientific advances in molecular and cellular biology, including the development of new and effective drug and biological therapies and diagnostic methods. The book provides medical and biomedical students and researchers with a clear and clinically relevant understanding on the molecular basis of human disease. With an increased focus on new practice concepts, such as stratified, personalized and precision medicine, this book is a valuable and much-needed resource that unites the core principles of molecular biology with the latest and most promising genomic advances. Illustrates the fundamental principles and therapeutic applications of molecular and cellular biology Offers a clinically focused account of molecular heterogeneity Includes comprehensive coverage of many different disorders, including growth and development, cardiovascular, metabolic, skin, blood, digestive, inflammatory, neuropsychiatric disorders, and many more

Innovations in Service Delivery in the Age of Genomics

Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Innovations in Service Delivery in the Age of Genomics Book PDF

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 81 pages
File Size : 51,7 Mb
Release : 2009-05-11
Category : Medical
ISBN : 9780309177580

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Innovations in Service Delivery in the Age of Genomics by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

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.

Genomic and Precision Medicine

Geoffrey S. Ginsburg,Huntington F Willard
Genomic and Precision Medicine Book PDF

Author : Geoffrey S. Ginsburg,Huntington F Willard
Publisher : Academic Press
Page : 398 pages
File Size : 40,8 Mb
Release : 2016-11-22
Category : Science
ISBN : 9780128006566

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Genomic and Precision Medicine by Geoffrey S. Ginsburg,Huntington F Willard Pdf

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

Integrating Large-Scale Genomic Information into Clinical Practice

Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Integrating Large Scale Genomic Information into Clinical Practice Book PDF

Author : Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publisher : National Academies Press
Page : 112 pages
File Size : 46,9 Mb
Release : 2012-03-06
Category : Medical
ISBN : 9780309220347

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Integrating Large-Scale Genomic Information into Clinical Practice by Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health Pdf

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.

Human Genome Informatics

Christophe Lambert,Darrol Baker,George P. Patrinos
Human Genome Informatics Book PDF

Author : Christophe Lambert,Darrol Baker,George P. Patrinos
Publisher : Academic Press
Page : 314 pages
File Size : 40,6 Mb
Release : 2018-08-02
Category : Medical
ISBN : 9780128134313

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Human Genome Informatics by Christophe Lambert,Darrol Baker,George P. Patrinos Pdf

Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field. Provides an overview of the most commonly used electronic tools to translate genomic information Brings an update on the existing human genomic databases that directly impact genome interpretation Summarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine