Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-03-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The Evaluation of Forensic DNA Evidence written by National Research Council and published by National Academies Press. This book was released on 1997-01-12 with total page 271 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Addressing Challenges in Genetic Test Evaluation written by U. S. Department of Health and Human Services and published by CreateSpace. This book was released on 2013-04-15 with total page 110 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Educating Health Professionals in Genomic Medicine Evidence Based Strategies and Approaches written by Sylvia Ann Metcalfe and published by Frontiers Media SA. This book was released on 2020-10-09 with total page 129 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Generating Evidence for Genomic Diagnostic Test Development written by Institute of Medicine and published by National Academies Press. This book was released on 2011-07-27 with total page 106 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ten years after the sequencing of the human genome, scientists have developed genetic tests that can predict a person's response to certain drugs, estimate the risk of developing Alzheimer's disease, and make other predictions based on known links between genes and diseases. However, genetic tests have yet to become a routine part of medical care, in part because there is not enough evidence to show they help improve patients' health. The Institute of Medicine (IOM) held a workshop to explore how researchers can gather better evidence more efficiently on the clinical utility of genetic tests. Generating Evidence for Genomic Diagnostic Test Development compares the evidence that is required for decisions regarding clearance, use, and reimbursement, to the evidence that is currently generated. The report also addresses innovative and efficient ways to generate high-quality evidence, as well as barriers to generating this evidence. Generating Evidence for Genomic Diagnostic Test Development contains information that will be of great value to regulators and policymakers, payers, health-care providers, researchers, funders, and evidence-based review groups.
Download or read book Protection of Human Genetic Information written by Australia. Law Reform Commission and published by Sydney : Australian Law Reform Commission. This book was released on 2001 with total page 441 pages. Available in PDF, EPUB and Kindle. Book excerpt: 13. Law enforcement issues
Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-04-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Assessing Genomic Sequencing Information for Health Care Decision Making written by Institute of Medicine and published by . This book was released on 2014 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This work is a summary of the workshop by Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine. This report compares and contrasts evidence evaluation processes for different clinical indications and discusses key challenges in the evidence evaluation process.
Download or read book Medical and Health Genomics written by Dhavendra Kumar and published by Academic Press. This book was released on 2016-06-04 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book DNA Technology in Forensic Science written by National Research Council and published by National Academies Press. This book was released on 1992-02-01 with total page 199 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book A Framework for K 12 Science Education written by National Research Council and published by National Academies Press. This book was released on 2012-02-28 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: Science, engineering, and technology permeate nearly every facet of modern life and hold the key to solving many of humanity's most pressing current and future challenges. The United States' position in the global economy is declining, in part because U.S. workers lack fundamental knowledge in these fields. To address the critical issues of U.S. competitiveness and to better prepare the workforce, A Framework for K-12 Science Education proposes a new approach to K-12 science education that will capture students' interest and provide them with the necessary foundational knowledge in the field. A Framework for K-12 Science Education outlines a broad set of expectations for students in science and engineering in grades K-12. These expectations will inform the development of new standards for K-12 science education and, subsequently, revisions to curriculum, instruction, assessment, and professional development for educators. This book identifies three dimensions that convey the core ideas and practices around which science and engineering education in these grades should be built. These three dimensions are: crosscutting concepts that unify the study of science through their common application across science and engineering; scientific and engineering practices; and disciplinary core ideas in the physical sciences, life sciences, and earth and space sciences and for engineering, technology, and the applications of science. The overarching goal is for all high school graduates to have sufficient knowledge of science and engineering to engage in public discussions on science-related issues, be careful consumers of scientific and technical information, and enter the careers of their choice. A Framework for K-12 Science Education is the first step in a process that can inform state-level decisions and achieve a research-grounded basis for improving science instruction and learning across the country. The book will guide standards developers, teachers, curriculum designers, assessment developers, state and district science administrators, and educators who teach science in informal environments.
Download or read book Truth Machine written by Michael Lynch and published by University of Chicago Press. This book was released on 2010-02-15 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: DNA profiling—commonly known as DNA fingerprinting—is often heralded as unassailable criminal evidence, a veritable “truth machine” that can overturn convictions based on eyewitness testimony, confessions, and other forms of forensic evidence. But DNA evidence is far from infallible. Truth Machine traces the controversial history of DNA fingerprinting by looking at court cases in the United States and United Kingdom beginning in the mid-1980s, when the practice was invented, and continuing until the present. Ultimately, Truth Machine presents compelling evidence of the obstacles and opportunities at the intersection of science, technology, sociology, and law.
Download or read book Generating Evidence for Genomic Diagnostic Test Development written by Theresa M. Wizemann and published by . This book was released on 2011 with total page 85 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Ten years after the sequencing of the human genome, scientists have developed genetic tests that can predict a person's response to certain drugs, estimate the risk of developing Alzheimer's disease, and make other predictions based on known links between genes and diseases. However, genetic tests have yet to become a routine part of medical care, in part because there is not enough evidence to show they help improve patients' health. The Institute of Medicine (IOM) held a workshop to explore how researchers can gather better evidence more efficiently on the clinical utility of genetic tests. Generating Evidence for Genomic Diagnostic Test Development compares the evidence that is required for decisions regarding clearance, use, and reimbursement, to the evidence that is currently generated. The report also addresses innovative and efficient ways to generate high-quality evidence, as well as barriers to generating this evidence. Generating Evidence for Genomic Diagnostic Test Development contains information that will be of great value to regulators and policymakers, payers, health-care providers, researchers, funders, and evidence-based review groups."--Publisher's description.
Download or read book Evaluation of the Congressionally Directed Medical Research Programs Review Process written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2016-12-19 with total page 165 pages. Available in PDF, EPUB and Kindle. Book excerpt: The medical research landscape in the United States is supported by a variety of organizations that spend billions of dollars in government and private funds each year to seek answers to complex medical and public health problems. The largest government funder is the National Institutes of Health (NIH), followed by the Department of Defense (DoD). Almost half of DoD's medical research funding is administered by the Congressionally Directed Medical Research Programs (CDMRP). The mission of CDMRP is to foster innovative approaches to medical research in response to the needs of its stakeholdersâ€"the U.S. military, their families, the American public, and Congress. CDMRP funds medical research to be performed by other government and nongovernmental organizations, but it does not conduct research itself. The major focus of CDMRP funded research is the improved prevention, diagnosis, and treatment of diseases, injuries, or conditions that affect service members and their families, and the general public. The hallmarks of CDMRP include reviewing applications for research funding using a two-tiered review process, and involving consumers throughout the process. Evaluation of the Congressionally Directed Medical Research Programs Review Process evaluates the CDMRP two-tiered peer review process, its coordination of research priorities with NIH and the Department of Veterans Affairs, and provides recommendations on how the process for reviewing and selecting studies can be improved.
Download or read book Nutrigenomics and the Future of Nutrition written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2018-08-27 with total page 155 pages. Available in PDF, EPUB and Kindle. Book excerpt: On December 5, 2017, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop titled Nutrigenomics and the Future of Nutrition in Washington, DC, to review current knowledge in the field of nutrigenomics as it relates to nutrition. Workshop participants explored the influence of genetic and epigenetic expression on nutritional status and the potential impact of personalized nutrition on health maintenance and chronic disease prevention. This publication summarizes the presentations and discussions from the workshop.
Download or read book The Immortal Life of Henrietta Lacks written by Rebecca Skloot and published by Crown. This book was released on 2010-02-02 with total page 386 pages. Available in PDF, EPUB and Kindle. Book excerpt: #1 NEW YORK TIMES BESTSELLER • “The story of modern medicine and bioethics—and, indeed, race relations—is refracted beautifully, and movingly.”—Entertainment Weekly NOW A MAJOR MOTION PICTURE FROM HBO® STARRING OPRAH WINFREY AND ROSE BYRNE • ONE OF THE “MOST INFLUENTIAL” (CNN), “DEFINING” (LITHUB), AND “BEST” (THE PHILADELPHIA INQUIRER) BOOKS OF THE DECADE • ONE OF ESSENCE’S 50 MOST IMPACTFUL BLACK BOOKS OF THE PAST 50 YEARS • WINNER OF THE CHICAGO TRIBUNE HEARTLAND PRIZE FOR NONFICTION NAMED ONE OF THE BEST BOOKS OF THE YEAR BY The New York Times Book Review • Entertainment Weekly • O: The Oprah Magazine • NPR • Financial Times • New York • Independent (U.K.) • Times (U.K.) • Publishers Weekly • Library Journal • Kirkus Reviews • Booklist • Globe and Mail Her name was Henrietta Lacks, but scientists know her as HeLa. She was a poor Southern tobacco farmer who worked the same land as her slave ancestors, yet her cells—taken without her knowledge—became one of the most important tools in medicine: The first “immortal” human cells grown in culture, which are still alive today, though she has been dead for more than sixty years. HeLa cells were vital for developing the polio vaccine; uncovered secrets of cancer, viruses, and the atom bomb’s effects; helped lead to important advances like in vitro fertilization, cloning, and gene mapping; and have been bought and sold by the billions. Yet Henrietta Lacks remains virtually unknown, buried in an unmarked grave. Henrietta’s family did not learn of her “immortality” until more than twenty years after her death, when scientists investigating HeLa began using her husband and children in research without informed consent. And though the cells had launched a multimillion-dollar industry that sells human biological materials, her family never saw any of the profits. As Rebecca Skloot so brilliantly shows, the story of the Lacks family—past and present—is inextricably connected to the dark history of experimentation on African Americans, the birth of bioethics, and the legal battles over whether we control the stuff we are made of. Over the decade it took to uncover this story, Rebecca became enmeshed in the lives of the Lacks family—especially Henrietta’s daughter Deborah. Deborah was consumed with questions: Had scientists cloned her mother? Had they killed her to harvest her cells? And if her mother was so important to medicine, why couldn’t her children afford health insurance? Intimate in feeling, astonishing in scope, and impossible to put down, The Immortal Life of Henrietta Lacks captures the beauty and drama of scientific discovery, as well as its human consequences.
