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

Publisher: National Academies Press

Published: 2018-05-16

Total Pages: 151

ISBN-13: 0309473446

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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.

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

Publisher: National Academies Press

Published: 2018-06-16

Total Pages: 151

ISBN-13: 0309473411

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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.

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

Author: Institute of Medicine

Publisher: National Academies Press

Published: 2009-11-10

Total Pages: 103

ISBN-13: 0309147417

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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?

An Evidence Framework for Genetic Testing
An Evidence Framework for Genetic Testing

Author: National Academies of Sciences, Engineering, and Medicine

Publisher: National Academies Press

Published: 2017-04-21

Total Pages: 149

ISBN-13: 0309453291

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Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Registries for Evaluating Patient Outcomes
Registries for Evaluating Patient Outcomes

Author: Agency for Healthcare Research and Quality/AHRQ

Publisher: Government Printing Office

Published: 2014-04-01

Total Pages: 385

ISBN-13: 1587634333

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This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase understanding of patient outcomes. For the purposes of this guide, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. A registry database is a file (or files) derived from the registry. Although registries can serve many purposes, this guide focuses on registries created for one or more of the following purposes: to describe the natural history of disease, to determine clinical effectiveness or cost-effectiveness of health care products and services, to measure or monitor safety and harm, and/or to measure quality of care. Registries are classified according to how their populations are defined. For example, product registries include patients who have been exposed to biopharmaceutical products or medical devices. Health services registries consist of patients who have had a common procedure, clinical encounter, or hospitalization. Disease or condition registries are defined by patients having the same diagnosis, such as cystic fibrosis or heart failure. The User’s Guide was created by researchers affiliated with AHRQ’s Effective Health Care Program, particularly those who participated in AHRQ’s DEcIDE (Developing Evidence to Inform Decisions About Effectiveness) program. Chapters were subject to multiple internal and external independent reviews.

Assessing Genetic Risks
Assessing Genetic Risks

Author: Institute of Medicine

Publisher: National Academies Press

Published: 1994-01-01

Total Pages: 353

ISBN-13: 0309047986

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Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Implementing Biomedical Innovations into Health, Education, and Practice
Implementing Biomedical Innovations into Health, Education, and Practice

Author: James O. Woolliscroft

Publisher: Academic Press

Published: 2019-10-23

Total Pages: 310

ISBN-13: 0128216042

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Our increased understanding of health and disease coupled with major technologic advances has resulted in rapid and significant changes in the practice of medicine. How we prepare physicians for clinical practice 20, 30, or 40 years from now is of paramount importance to medical educators, to the future professionals, and to society at large. Implementing Biomedical Innovations into Health, Education, and Practice delves into this important question, discussing the effects of precision medicine, bioinformatics, biologic and environmental forces, and societal shifts on the physician's approach to diagnosis and therapy. The author interviewed world-renowned physicians, medical educators, healthcare leaders, and research professionals—their insights and quotes are woven throughout the narrative. Professionally illustrated, this relevant resource is a must-have for all medical professionals who incorporate technology and biomedical innovations in their research and clinical practice. It encourages thoughtful analysis on adapting and developing the foundational knowledge, skills, and aptitudes of future physicians and other healthcare professionals, and it belongs in your library. "Having completed deanship at one of America's leading medical schools, Jim Woolliscroft produces an insightful, contemplative projection of the likely skill and behavioral needs of the physician workforce for the mid-21st century...The result is a playbook for physician training that responds effectively to the daunting challenges faced in the coming transformation of the role of physicians in protecting the health of our nation. James L. Madara, MD, CEO, American Medical Association "Dr. Woolliscroft's provocative new book will become must reading for all who are serious about educating the next generation of physicians and health care leaders. Leveraging his own experience as a consummate educator and interviews with numerous thought leaders, he identifies the uncertainties, challenges and disruptions to the practice of medicine in the decades ahead. The implications and imperatives for the coming generations of physicians are compelling and of critical importance for care givers, policy makers, and most pointedly educators in the U.S. and around the world. Gary S. Kaplan MD, Chairman and CEO, Virginia Mason Health System "This ambitious masterpiece, by one of the leading medical educators of our time, fully captures the ongoing changes and disruptions in medicine today, and how they will influence the care of patients and the training of young physicians in the future. Eric Topol, MD, Executive Vice President, Scripps Research, Author of Deep Medicine - Discusses likely technologic disruptors: sensors, AI, machine learning, and robotics - Highlights microbiota, genetics, molecular biology, gene therapy, and regenerative and precision medicine as likely disruptors - Presents an intriguing set of scenarios depicting the life of future physicians

Biomedical Research Developments for Improved Healthcare
Biomedical Research Developments for Improved Healthcare

Author: Prabhakar, Pranav Kumar

Publisher: IGI Global

Published: 2024-03-04

Total Pages: 411

ISBN-13:

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A chasm grows between the currently established knowledge and the rapidly evolving landscape of healthcare. As the field of biomedical research hurtles forward with groundbreaking discoveries and transformative technologies, academic scholars find themselves grappling with a significant dilemma. There exists a disconnect between traditional educational resources and the need to keep pace with the latest innovations that are reshaping medicine, diagnosis, and treatment. This widening gap inhibits scholars from adequately preparing their students and hampers their ability to engage in relevant, cutting-edge research, ultimately impeding the advancement of healthcare as a whole. Biomedical Research Developments for Improved Healthcare serves as the ultimate solution to this academic challenge. This book offers a compelling bridge between the realm of academic theory and the dynamic world of practical, real-world biomedical research. Its primary objective is to equip scholars with the knowledge, insights, and materials needed to inspire the next generation of healthcare professionals. By presenting a comprehensive overview of the most recent and groundbreaking advancements in biomedical research, the book enables scholars to transcend the limitations of traditional academia and empower their students with up-to-date, practical knowledge.

Oxford Textbook of Global Public Health
Oxford Textbook of Global Public Health

Author: Roger Detels

Publisher: Oxford University Press

Published: 2017

Total Pages: 1717

ISBN-13: 019881013X

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Sixth edition of the hugely successful, internationally recognised textbook on global public health and epidemiology, with 3 volumes comprehensively covering the scope, methods, and practice of the discipline

Human Genetics and Genomics
Human Genetics and Genomics

Author: Bruce R. Korf

Publisher: John Wiley & Sons

Published: 2012-11-19

Total Pages: 280

ISBN-13: 1118537661

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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.