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An Evidence Framework for Genetic Testing

An Evidence Framework for Genetic Testing PDF Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309453321
Category : Medical
Languages : en
Pages : 149

Book Description
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.

An Evidence Framework for Genetic Testing

An Evidence Framework for Genetic Testing PDF Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309453321
Category : Medical
Languages : en
Pages : 149

Book Description
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.

Assessing Genetic Risks

Assessing Genetic Risks PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309047986
Category : Medical
Languages : en
Pages : 353

Book Description
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.

The Evaluation of Forensic DNA Evidence

The Evaluation of Forensic DNA Evidence PDF Author: National Research Council
Publisher: National Academies Press
ISBN: 0309121949
Category : Science
Languages : en
Pages : 271

Book Description
In 1992 the National Research Council issued DNA Technology in Forensic Science, a book that documented the state of the art in this emerging field. Recently, this volume was brought to worldwide attention in the murder trial of celebrity O. J. Simpson. The Evaluation of Forensic DNA Evidence reports on developments in population genetics and statistics since the original volume was published. The committee comments on statements in the original book that proved controversial or that have been misapplied in the courts. This volume offers recommendations for handling DNA samples, performing calculations, and other aspects of using DNA as a forensic toolâ€"modifying some recommendations presented in the 1992 volume. The update addresses two major areas: Determination of DNA profiles. The committee considers how laboratory errors (particularly false matches) can arise, how errors might be reduced, and how to take into account the fact that the error rate can never be reduced to zero. Interpretation of a finding that the DNA profile of a suspect or victim matches the evidence DNA. The committee addresses controversies in population genetics, exploring the problems that arise from the mixture of groups and subgroups in the American population and how this substructure can be accounted for in calculating frequencies. This volume examines statistical issues in interpreting frequencies as probabilities, including adjustments when a suspect is found through a database search. The committee includes a detailed discussion of what its recommendations would mean in the courtroom, with numerous case citations. By resolving several remaining issues in the evaluation of this increasingly important area of forensic evidence, this technical update will be important to forensic scientists and population geneticistsâ€"and helpful to attorneys, judges, and others who need to understand DNA and the law. Anyone working in laboratories and in the courts or anyone studying this issue should own this book.

Addressing Challenges in Genetic Test Evaluation

Addressing Challenges in Genetic Test Evaluation PDF Author: U. S. Department of Health and Human Services
Publisher: CreateSpace
ISBN: 9781484124420
Category : Medical
Languages : en
Pages : 110

Book Description
Genetic testing is a rapidly expanding area with many clinical applications. While the introduction of new genetic tests creates tremendous potential for improving patient care, it is essential to evaluate these tests thoroughly to ensure that they are accurate and lead to improved patient outcomes when used in clinical practice settings. While the general principles for evaluating genetic tests are similar to those for evaluating other clinical tests, there are differences in how the principles are applied and the degree to which certain issues are relevant. The context for genetic testing is often more complex than that of other clinical tests. Evaluating the clinical impact of genetic tests under a broad range of clinical scenarios, particularly when the evaluation involves heritable conditions, requires use of appropriate frameworks. To date, systematic reviewers have not been consistent in their approaches to evaluating genetic tests. Clarifying a set of analytic frameworks customized for different testing scenarios but sharing the same principles could be beneficial to the practice of genetic testing evaluation. Another challenge in evaluating genetic tests is the assessment of analytic validity. Analytic validity refers to the ability of a laboratory test to accurately and reliably measure the properties or characteristics it is intended to measure (e.g., the presence of a gene mutation). Evaluation of a genetic test's analytic validity is often required as part of the effort to establish the aforementioned “chain of evidence.” The paucity of published data and a lack of an optimized search strategy for identifying data on analytic validity from gray literature remain a major barrier to evaluating analytic validity of genetic tests. Meanwhile, there is a lack of established quality assessment guidance for assessing analytic validity studies when they are identified. To address these important issues related to genetic test evaluation, the Agency for Healthcare Research and Quality commissioned this report. The report addressed the following four Key Questions: Key Question 1: Is it feasible to clarify a comprehensive framework or a limited set of frameworks for evaluating genetic tests by modifying existing frameworks? Key Question 2: What are the strengths and limitations of different approaches to literature searching to assess evidence on variability in genetic and laboratory testing? Is there an optimal approach to literature search? Key Question 3: Is it feasible to apply existing quality rating criteria to analytic validity studies on genetic tests? Is there an optimal quality rating instrument for these studies? Key Question 4: What are existing gaps in evidence on sources and contributors of variability common to all genetic tests, or to specific categories of genetic tests? What approaches will lead to generating data to fill these gaps? These four key questions fall into two categories that are intrinsically connected but different in scope: evaluation frameworks and analytic validity

Educating Health Professionals in Genomic Medicine: Evidence-Based Strategies and Approaches

Educating Health Professionals in Genomic Medicine: Evidence-Based Strategies and Approaches PDF Author: Sylvia Ann Metcalfe
Publisher: Frontiers Media SA
ISBN: 2889660591
Category : Medical
Languages : en
Pages : 129

Book Description
This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.

An Evidence Framework for Genetic Testing

An Evidence Framework for Genetic Testing PDF Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309453291
Category : Medical
Languages : en
Pages : 149

Book Description
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.

Medical and Health Genomics

Medical and Health Genomics PDF Author: Dhavendra Kumar
Publisher: Academic Press
ISBN: 0127999221
Category : Science
Languages : en
Pages : 358

Book Description
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

Clinical Genome Sequencing

Clinical Genome Sequencing PDF Author: Aad Tibben
Publisher: Academic Press
ISBN: 9780128133354
Category : Medical
Languages : en
Pages : 0

Book Description
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.

Protection of Human Genetic Information

Protection of Human Genetic Information PDF Author: Australia. Law Reform Commission
Publisher: Sydney : Australian Law Reform Commission
ISBN: 9780642732118
Category : Data protection
Languages : en
Pages : 441

Book Description
13. Law enforcement issues

DNA Technology in Forensic Science

DNA Technology in Forensic Science PDF Author: National Research Council
Publisher: National Academies Press
ISBN: 0309045878
Category : Science
Languages : en
Pages : 199

Book Description
Matching DNA samples from crime scenes and suspects is rapidly becoming a key source of evidence for use in our justice system. DNA Technology in Forensic Science offers recommendations for resolving crucial questions that are emerging as DNA typing becomes more widespread. The volume addresses key issues: Quality and reliability in DNA typing, including the introduction of new technologies, problems of standardization, and approaches to certification. DNA typing in the courtroom, including issues of population genetics, levels of understanding among judges and juries, and admissibility. Societal issues, such as privacy of DNA data, storage of samples and data, and the rights of defendants to quality testing technology. Combining this original volume with the new update-The Evaluation of Forensic DNA Evidence-provides the complete, up-to-date picture of this highly important and visible topic. This volume offers important guidance to anyone working with this emerging law enforcement tool: policymakers, specialists in criminal law, forensic scientists, geneticists, researchers, faculty, and students.