Secondary Findings in Genomic Research

Secondary Findings in Genomic Research
Author: Anonim
Publsiher: Academic Press
Total Pages: 244
Release: 2020-02-29
ISBN 10: 0128167483
ISBN 13: 9780128167489
Language: EN, FR, DE, ES & NL

Secondary Findings in Genomic Research Book Review:

Secondary Findings in Genomic Research offers a single, highly accessible resource on interpreting, managing and disclosing secondary findings in genomic research. With chapters written by experts in the field, this book is the first to concisely explain the ethical and practical issues raised by secondary genomics findings for a multi and interdisciplinary audience of genomic researchers, translational scientists, clinicians, medical students, genetic counselors, ethicists, legal experts and law students, public policy specialists and regulators. Contributors from Europe, North America, and Asia effectively synthesize perspectives from a spectrum of different scientific, societal, and global contexts, and offer pragmatic approaches to a range of topics, including oversight, governance and policy surrounding secondary genomic results, criteria for identifying results for return, communication and consent, stakeholders’ attitudes and perspectives, disclosing results, and clinical, patient-centered protocols. Thoroughly addresses the scientific, ethical, practical and clinical issues raised by secondary findings resulting from genomic research, including active debate and challenges in the field Provides researchers, clinicians, regulators, and stakeholders with a holistic, interdisciplinary approach to interpreting, managing and disclosing secondary findings Brings together expert analysis from scholars across Europe, North America, and Asia representing a wide variety of scientific and societal contexts

Secondary Findings in Genomic Research

Secondary Findings in Genomic Research
Author: Kyle B. Brothers
Publsiher: Academic Press
Total Pages: 312
Release: 2020-05
ISBN 10: 0128165499
ISBN 13: 9780128165492
Language: EN, FR, DE, ES & NL

Secondary Findings in Genomic Research Book Review:

Secondary Findings in Genomic Research offers a single, highly accessible resource on interpreting, managing and disclosing secondary findings in genomic research. With chapters written by experts in the field, this book is the first to concisely explain the ethical and practical issues raised by secondary genomics findings for a multi and interdisciplinary audience of genomic researchers, translational scientists, clinicians, medical students, genetic counselors, ethicists, legal experts and law students, public policy specialists and regulators. Contributors from Europe, North America, and Asia effectively synthesize perspectives from a spectrum of different scientific, societal, and global contexts, and offer pragmatic approaches to a range of topics, including oversight, governance and policy surrounding secondary genomic results, criteria for identifying results for return, communication and consent, stakeholders' attitudes and perspectives, disclosing results, and clinical, patient-centered protocols. Thoroughly addresses the scientific, ethical, practical and clinical issues raised by secondary findings resulting from genomic research, including active debate and challenges in the field Provides researchers, clinicians, regulators, and stakeholders with a holistic, interdisciplinary approach to interpreting, managing and disclosing secondary findings Brings together expert analysis from scholars across Europe, North America, and Asia representing a wide variety of scientific and societal contexts

Clinical Genome Sequencing

Clinical Genome Sequencing
Author: Aad Tibben,Barbara B. Biesecker
Publsiher: Academic Press
Total Pages: 258
Release: 2019-03-30
ISBN 10: 0128133368
ISBN 13: 9780128133361
Language: EN, FR, DE, ES & NL

Clinical Genome Sequencing Book Review:

Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine. Features contributions from leading international researchers and practitioners versed in the psychosocial dimensions of genomic medicine implementation Presents clinical case studies that support concept illustration, making this an invaluable reference for students, researchers, and clinicians looking for practical guidance in this important and multifaceted topic area Details the current state of genomic testing, expectations of genome sequencing, patient consent, patient responses to sequencing data, uncertainties in genome sequencing, direct-to-consumer genome sequencing, and more

Medical and Health Genomics

Medical and Health Genomics
Author: Dhavendra Kumar,Stylianos Antonarakis
Publsiher: Academic Press
Total Pages: 358
Release: 2016-06-04
ISBN 10: 0127999221
ISBN 13: 9780127999227
Language: EN, FR, DE, ES & NL

Medical and Health Genomics Book Review:

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

Issues in Returning Individual Results from Genome Research Using Population Based Banked Specimens with a Focus on the National Health and Nutrition Examination Survey

Issues in Returning Individual Results from Genome Research Using Population Based Banked Specimens  with a Focus on the National Health and Nutrition Examination Survey
Author: National Research Council,Division of Behavioral and Social Sciences and Education,Committee on National Statistics,Steering Committee for the Workshop on Guidelines for Returning Individual Results from Genome Research Using Population-Based Banked Specimens
Publsiher: National Academies Press
Total Pages: 110
Release: 2014-09-08
ISBN 10: 0309307074
ISBN 13: 9780309307079
Language: EN, FR, DE, ES & NL

Issues in Returning Individual Results from Genome Research Using Population Based Banked Specimens with a Focus on the National Health and Nutrition Examination Survey Book Review:

Population surveys traditionally collect information from respondents about their circumstances, behaviors, attitudes, and other characteristics. In recent years, many surveys have been collecting not only questionnaire answers, but also biologic specimens such as blood samples, saliva, and buccal swabs, from which a respondent's DNA can be ascertained along with other biomarkers (e.g., the level of a certain protein in the blood). The National Health and Nutrition Examination Survey (NHANES), sponsored by the National Center for Health Statistics (NCHS), has been collecting and storing genetic specimens since 1991, and other surveys, such as the Health and Retirement Study (HRS) funded by the National Institute on Aging, have followed suit. In order to give their informed consent to participate in a survey, respondents need to know the disposition and use of their data. Will their data be used for one research project and then destroyed, or will they be archived for secondary use? Sponsors of repeated cross-sectional surveys, such as NHANES, and of longitudinal surveys that follow panels of individuals over time, such as HRS, generally want to retain data for a wide range of secondary uses, many of which are not explicitly foreseen at the time of data collection. They typically inform respondents that their data will be stored in a secure manner and may be provided to researchers with suitable protections against individual identification. The addition of biologic specimens to a survey adds complications for storing, protecting, and providing access to such data and measurements made from them. There are also questions of whether, when, and for which biologic measurements the results should be reported back to individual respondents. Recently, the cost of full genomic sequencing has plummeted, and research findings are beginning to accumulate that bear up under replication and that potentially have clinical implications for a respondent. For example, knowing that one possesses a certain gene or gene sequence might suggest that one should seek a certain kind of treatment or genetic counseling or inform one's blood relatives. Biomedical research studies, in which participants are asked to donate tissues for genetic studies and are usually told that they will not be contacted with any results, are increasingly confronting the issue of when and which DNA results to return to participants. Issues in Returning Individual Results from Genome Research Using Population-Based Banked Specimens, with a Focus on the National Health and Nutrition Examination Survey is the summary of a workshop convened in February 2013 by the Committee on National Statistics in the Division of Behavioral and Social Sciences and Education of the National Research Council. This report considers how population surveys, in particular NHANES, should implement the reporting of results from genomic research using stored specimens and address informed consent for future data collection as well as for the use of banked specimens covered by prior informed consent agreements. The report will be of interest to survey organizations that include or contemplate including the collection of biologic specimens in population surveys for storing for genetic research. The issues involved are important for advancing social, behavioral, and biomedical knowledge while appropriately respecting and protecting individual survey respondents.

Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies

Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies
Author: Sorin Hostiuc
Publsiher: Academic Press
Total Pages: 431
Release: 2018-08-07
ISBN 10: 0128137657
ISBN 13: 9780128137659
Language: EN, FR, DE, ES & NL

Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies Book Review:

Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies offers thorough discussions on preconception carrier screening, genetic engineering and the use of CRISPR gene editing, mitochondrial gene replacement therapy, sex selection, predictive testing, secondary findings, embryo reduction and the moral status of the embryo, genetic enhancement, and the sharing of genetic data. Chapter contributions from leading bioethicists and clinicians encourage a global, holistic perspective on applied challenges and the moral questions relating the implementation of genetic reproductive technology. The book is an ideal resource for practitioners, regulators, lawmakers, clinical researchers, genetic counselors and graduate and medical students. As the Human Genome Project has triggered a technological revolution that has influenced nearly every field of medicine, including reproductive medicine, obstetrics, gynecology, andrology, prenatal genetic testing, and gene therapy, this book presents a timely resource. Provides practical analysis of the ethical issues raised by cutting-edge techniques and recent advances in prenatal and reproductive genetics Contains contributions from leading bioethicists and clinicians who offer a global, holistic perspective on applied challenges and moral questions relating to genetic and genomic reproductive technology Discusses preconception carrier screening, genetic engineering and the use of CRISPR gene editing, mitochondrial gene replacement therapy, ethical issues, and more

Human Genetics and Genomics

Human Genetics and Genomics
Author: Bruce R. Korf,Mira B. Irons
Publsiher: John Wiley & Sons
Total Pages: 280
Release: 2012-11-19
ISBN 10: 1118537661
ISBN 13: 9781118537664
Language: EN, FR, DE, ES & NL

Human Genetics and Genomics Book Review:

This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

Assessing Genomic Sequencing Information for Health Care Decision Making

Assessing Genomic Sequencing Information for Health Care Decision Making
Author: Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publsiher: National Academies Press
Total Pages: 126
Release: 2014-08-19
ISBN 10: 0309304970
ISBN 13: 9780309304979
Language: EN, FR, DE, ES & NL

Assessing Genomic Sequencing Information for Health Care Decision Making Book Review:

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.

Returning Individual Research Results to Participants

Returning Individual Research Results to Participants
Author: National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Committee on the Return of Individual-Specific Research Results Generated in Research Laboratories
Publsiher: National Academies Press
Total Pages: 398
Release: 2018-09-23
ISBN 10: 0309475171
ISBN 13: 9780309475174
Language: EN, FR, DE, ES & NL

Returning Individual Research Results to Participants Book Review:

When is it appropriate to return individual research results to participants? The immense interest in this question has been fostered by the growing movement toward greater transparency and participant engagement in the research enterprise. Yet, the risks of returning individual research resultsâ€"such as results with unknown validityâ€"and the associated burdens on the research enterprise are competing considerations. Returning Individual Research Results to Participants reviews the current evidence on the benefits, harms, and costs of returning individual research results, while also considering the ethical, social, operational, and regulatory aspects of the practice. This report includes 12 recommendations directed to various stakeholdersâ€"investigators, sponsors, research institutions, institutional review boards (IRBs), regulators, and participantsâ€"and are designed to help (1) support decision making regarding the return of results on a study-by-study basis, (2) promote high-quality individual research results, (3) foster participant understanding of individual research results, and (4) revise and harmonize current regulations.

The Oxford Handbook of U S Healthcare Law

The Oxford Handbook of U S  Healthcare Law
Author: I. Glenn Cohen
Publsiher: Oxford University Press
Total Pages: 1216
Release: 2016-12-16
ISBN 10: 0199366527
ISBN 13: 9780199366521
Language: EN, FR, DE, ES & NL

The Oxford Handbook of U S Healthcare Law Book Review:

The Oxford Handbook of U.S. Health Law covers the breadth and depth of health law, with contributions from the most eminent scholars in the field. The Handbook paints with broad thematic strokes the major features of American healthcare law and policy, its recent reforms including the Affordable Care Act, its relationship to medical ethics and constitutional principles, and how it compares to the experience of other countries. It explores the legal framework for the patient experience, from access through treatment, to recourse (if treatment fails), and examines emerging issues involving healthcare information, the changing nature of healthcare regulation, immigration, globalization, aging, and the social determinants of health. This Handbook provides valuable content, accessible to readers new to the subject, as well as to those who write, teach, practice, or make policy in health law.

Anticipate and Communicate

Anticipate and Communicate
Author: Presidential Commission for the Study of Bioethical Issues,The Presidential Commission for the Stud
Publsiher: CreateSpace
Total Pages: 156
Release: 2015-03-11
ISBN 10: 9781508807643
ISBN 13: 1508807647
Language: EN, FR, DE, ES & NL

Anticipate and Communicate Book Review:

Anticipate and Communicate is the Bioethics Commission's sixth major report. In this report the Bioethics Commission offers specific recommendations for the management of incidental and secondary findings in clinical, research and direct-to-consumer settings. Emerging medical technologies, changing cost structures, and evolving medical practice make the likelihood of discovering incidental and secondary findings across contexts a growing certainty. Such findings can be lifesaving, but also can lead to uncertainty and distress if they are unexpected or identify conditions for which no effective treatment is available.

Cancer Genomics

Cancer Genomics
Author: Matthew Herder,Conrad V Fernandez
Publsiher: Elsevier Inc. Chapters
Total Pages: 510
Release: 2013-11-21
ISBN 10: 0128061219
ISBN 13: 9780128061213
Language: EN, FR, DE, ES & NL

Cancer Genomics Book Review:

Large-scale cancer genomics research projects raise a range of ethical and legal issues. We focus on two emerging themes challenged within genomic research: (1) issues surrounding the return of research results to research participants, whether in summary or individualized form, and (2) issues connected to the commercialization of research, including the patenting of biomedical discoveries and biological materials. We examine current thinking in these areas and highlight areas for further exploration.

The Drama of DNA

The Drama of DNA
Author: Karen H. Rothenberg JD, MPA,Lynn Wein Bush PhD, MS, MA
Publsiher: Oxford University Press
Total Pages: 224
Release: 2014-03-14
ISBN 10: 0199373159
ISBN 13: 9780199373154
Language: EN, FR, DE, ES & NL

The Drama of DNA Book Review:

Through the use of dramatic narratives, The Drama of DNA brings to life the complexities raised by the application of genomic technologies to health care and diagnosis. This creative, pedagogical approach shines a unique light on the ethical, psychosocial, and policy challenges that emerge as comprehensive sequencing of the human genome transitions from research to clinical medicine. Narrative genomics aims to enhance understanding of how we evaluate, process, and share genomic information, and to cultivate a deeper appreciation for difficult decisions encountered by health care professionals, bioethicists, families, and society as this technology reaches the bedside. This innovative book includes both original genomic plays and theatrical excerpts that illuminate the implications of genomic information and emerging technologies for physicians, scientists, counselors, patients, blood relatives, and society. In addition to the plays, the authors provide an analytical foundation to frame the many challenges that often arise.

The Drama of DNA

The Drama of DNA
Author: Karen H. Rothenberg,Lynn Wein Bush
Publsiher: Oxford University Press, USA
Total Pages: 211
Release: 2014
ISBN 10: 0199309353
ISBN 13: 9780199309351
Language: EN, FR, DE, ES & NL

The Drama of DNA Book Review:

Through the use of dramatic narratives, The Drama of DNA brings to life the complexities raised by the application of genomic technologies to health care and diagnosis. This creative, pedagogical approach shines a unique light on the ethical, psychosocial, and policy challenges that emerge as comprehensive sequencing of the human genome transitions from research to clinical medicine. Narrative genomics aims to enhance understanding of how we evaluate, process, and share genomic information, and to cultivate a deeper appreciation for difficult decisions encountered by health care professionals, bioethicists, families, and society as this technology reaches the bedside. This innovative book includes both original genomic plays and theatrical excerpts that illuminate the implications of genomic information and emerging technologies for physicians, scientists, counselors, patients, blood relatives, and society. In addition to the plays, the authors provide an analytical foundation to frame the many challenges that often arise.

Clinical Genomics

Clinical Genomics
Author: Shashikant Kulkarni,John Pfeifer
Publsiher: Academic Press
Total Pages: 488
Release: 2014-11-10
ISBN 10: 0124051731
ISBN 13: 9780124051737
Language: EN, FR, DE, ES & NL

Clinical Genomics Book Review:

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

The Oxford Handbook of Public Health Ethics

The Oxford Handbook of Public Health Ethics
Author: Anna C. Mastroianni,Jeffrey P. Kahn,Nancy E. Kass
Publsiher: Oxford University Press
Total Pages: 992
Release: 2019-07-23
ISBN 10: 0190245212
ISBN 13: 9780190245214
Language: EN, FR, DE, ES & NL

The Oxford Handbook of Public Health Ethics Book Review:

Natural disasters and cholera outbreaks. Ebola, SARS, and concerns over pandemic flu. HIV and AIDS. E. coli outbreaks from contaminated produce and fast foods. Threats of bioterrorism. Contamination of compounded drugs. Vaccination refusals and outbreaks of preventable diseases. These are just some of the headlines from the last 30-plus years highlighting the essential roles and responsibilities of public health, all of which come with ethical issues and the responsibilities they create. Public health has achieved extraordinary successes. And yet these successes also bring with them ethical tension. Not all public health successes are equally distributed in the population; extraordinary health disparities between rich and poor still exist. The most successful public health programs sometimes rely on policies that, while improving public health conditions, also limit individual rights. Public health practitioners and policymakers face these and other questions of ethics routinely in their work, and they must navigate their sometimes competing responsibilities to the health of the public with other important societal values such as privacy, autonomy, and prevailing cultural norms. This Oxford Handbook provides a sweeping and comprehensive review of the current state of public health ethics, addressing these and numerous other questions. Taking account of the wide range of topics under the umbrella of public health and the ethical issues raised by them, this volume is organized into fifteen sections. It begins with two sections that discuss the conceptual foundations, ethical tensions, and ethical frameworks of and for public health and how public health does its work. The thirteen sections that follow examine the application of public health ethics considerations and approaches across a broad range of public health topics. While chapters are organized into topical sections, each chapter is designed to serve as a standalone contribution. The book includes 73 chapters covering many topics from varying perspectives, a recognition of the diversity of the issues that define public health ethics in the U.S. and globally. This Handbook is an authoritative and indispensable guide to the state of public health ethics today.

Ethical Dilemmas in Genetics and Genetic Counseling

Ethical Dilemmas in Genetics and Genetic Counseling
Author: Janice L. Berliner
Publsiher: Oxford University Press, USA
Total Pages: 226
Release: 2014-09-25
ISBN 10: 019994489X
ISBN 13: 9780199944897
Language: EN, FR, DE, ES & NL

Ethical Dilemmas in Genetics and Genetic Counseling Book Review:

By using a creative approach that focuses on a single extended family as a case example to illustrate each chapter's key point, the authors elucidate ethical issues arising in the genetics clinic and laboratory surrounding many timely issues.

Genetic Screening

Genetic Screening
Author: Anonim
Publsiher: National Academies
Total Pages: 388
Release: 1975-01-01
ISBN 10: 1928374650XXX
ISBN 13: NAP:13983
Language: EN, FR, DE, ES & NL

Genetic Screening Book Review:

Implementing and Evaluating Genomic Screening Programs in Health Care Systems

Implementing and Evaluating Genomic Screening Programs in Health Care Systems
Author: National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Sciences Policy,Roundtable on Genomics and Precision Health
Publsiher: National Academies Press
Total Pages: 150
Release: 2018-06-16
ISBN 10: 0309473411
ISBN 13: 9780309473415
Language: EN, FR, DE, ES & NL

Implementing and Evaluating Genomic Screening Programs in Health Care Systems Book Review:

Genomic applications are being integrated into a broad range of clinical and research activities at health care systems across the United States. This trend can be attributed to a variety of factors, including the declining cost of genome sequencing and the potential for improving health outcomes and cutting the costs of care. The goals of these genomics-based programs may be to identify individuals with clinically actionable variants as a way of preventing disease, providing diagnoses for patients with rare diseases, and advancing research on genetic contributions to health and disease. Of particular interest are genomics- based screening programs, which will, in this publication, be clinical screening programs that examine genes or variants in unselected populations in order to identify individuals who are at an increased risk for a particular health concern (e.g., diseases, adverse drug outcomes) and who might benefit from clinical interventions. On November 1, 2017, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop to explore the challenges and opportunities associated with integrating genomics-based screening programs into health care systems. This workshop was developed as a way to explore the challenges and opportunities associated with integrating genomics-based programs in health care systems in the areas of evidence collection, sustainability, data sharing, infrastructure, and equity of access. This publication summarizes the presentations and discussions from the workshop.

The Economics of Genomic Medicine

The Economics of Genomic Medicine
Author: Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publsiher: National Academies Press
Total Pages: 128
Release: 2013-06-20
ISBN 10: 0309269733
ISBN 13: 9780309269735
Language: EN, FR, DE, ES & NL

The Economics of Genomic Medicine Book Review:

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.