Download or read book Diagnostic Genetic Testing written by David Bourn and published by Springer Nature. This book was released on 2021-11-13 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences. The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients. The book is written for everyone interested to learn about the process of genetic testing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals in health policy or health journalism.
Download or read book Am I My Genes written by Robert Klitzman and published by OUP USA. This book was released on 2012-03 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this volume, the psychiatrist Robert Klitzman explores how individuals confront the complex issues associated with genetic testing in their daily lives.
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 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 Understanding Gene Testing written by and published by . This book was released on 1997 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetic Testing for Developmental Disabilities Intellectual Disability and Autism Spectrum Disorder Technical Brief Number 23 written by Department Of Health And Human Services and published by . This book was released on 2015-11-02 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Technical Brief collects and summarizes information on genetic tests clinically available in the United States to detect genetic markers that predispose to DDs. It also identifies, but does not systematically review, existing evidence addressing the tests' clinical utility. This Brief primarily focuses on patients with idiopathic or unexplained DDs, particularly intellectual disability, global developmental delay, and autism spectrum disorder. Several better-defined DD syndromes, including Angelman syndrome, fragile X syndrome, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Smith-Magenis syndrome, velocardiofacial syndrome, and Williams syndrome are also included. Patient-centered health outcomes (e.g., functional or symptomatic improvement) and intermediate outcomes (e.g., changes in clinical decisions or family reproductive decisions, the tests' diagnostic accuracy and analytic validity) are examined.
Download or read book Genetic Testing and the Governance of Risk in the Contemporary Economy written by Lara Khoury and published by Springer Nature. This book was released on 2020-10-01 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book addresses emerging questions concerning who should bear responsibility for shouldering risk, as well as the viability of existing and experimental governance mechanisms in connection with new technologies. Scholars from 14 jurisdictions unite their efforts in this edited collection to provide a comparative analysis of how various legal systems are tackling the challenges produced by the legal aspects of genetic testing in insurance and employment. They cover the diverse set of norms that surround this issue, and share insights into relevant international, regional and national incursions into the field. By doing so, the authors offer a basis for comparative reflection, including on whether transnational standard setting might be useful or necessary for the legal aspects of genetic testing as they relate to the insurance and employment contexts. The respective texts cover a broad range of topics, including the prevalence of genetic testing in the contexts of insurance and employment, and policy factors that might affect this prevalence, such as the design of national health or social insurance systems, of private insurance schemes or the availability of low-cost direct-to-consumer genetic testing. Further, the field of genetics is gaining in importance at the international and regional levels. Relevant concepts – mainly genetic tests and genetic data/information – have been internationally defined, and these definitions have influenced definitions adopted nationally. International law also recognizes a “special status” for human genetic data. The authors therefore also consider these definitions and the recognition of the special status of human genetic data within regional and national legal orders. They investigate the range of norms that specifically address the use of genetic testing in employment and insurance, encompassing international sources – including human rights norms – that may be binding or non-binding, as well national statutory, regulatory and soft-law mechanisms. Accordingly, some of the texts examine general frameworks relevant to genetic testing in each country, including those that stem from general anti-discrimination rules and norms protecting rights to autonomy, self-determination, confidentiality and privacy. In closing, the authors provide an overview of the efficiency of their respective legal regimes’ approaches – specific and generalist – to genetic testing or disclosure of genetic information in the employment or insurance contexts, including the effect of lack of legal guidance. In this regard, some of the authors highlight the need for transnational action in the field and make recommendation for future legal developments.
Download or read book The Lost Family written by Libby Copeland and published by Abrams. This book was released on 2020-03-03 with total page 196 pages. Available in PDF, EPUB and Kindle. Book excerpt: “A fascinating exploration of the mysteries ignited by DNA genealogy testing—from the intensely personal and concrete to the existential and unsolvable.” —Tana French, New York Times–bestselling author You swab your cheek or spit in a vial, then send it away to a lab somewhere. Weeks later you get a report that might tell you where your ancestors came from or if you carry certain genetic risks. Or, the report could reveal a long-buried family secret that upends your entire sense of identity. Soon a lark becomes an obsession, a relentless drive to find answers to questions at the core of your being, like “Who am I?” and “Where did I come from?” Welcome to the age of home genetic testing. In The Lost Family, journalist Libby Copeland investigates what happens when we embark on a vast social experiment with little understanding of the ramifications. She explores the culture of genealogy buffs, the science of DNA, and the business of companies like Ancestry and 23andMe, all while tracing the story of one woman, her unusual results, and a relentless methodical drive for answers that becomes a thoroughly modern genetic detective story. Gripping and masterfully told, The Lost Family is a spectacular book on a big, timely subject. “An urgently necessary, powerful book that addresses one of the most complex social and bioethical issues of our time.” —Dani Shapiro, New York Times–bestselling author “Before you spit in that vial, read this book.” —The New York Times Book Review “Impeccably researched . . . up-to-the-minute science meets the philosophy of identity in a poignant, engaging debut.” —Kirkus Reviews (starred review)
Download or read book Heredity and Hope written by Ruth Schwartz COWAN and published by Harvard University Press. This book was released on 2009-06-30 with total page 303 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neither minimizing the difficulty of the choices that modern genetics has created for us nor fearing them, Cowan argues that we can improve the quality of our own lives and the lives of our children by using the modern science and technology of genetic screening responsibly.
Download or read book Direct to Consumer Genetic Testing written by National Research Council and published by National Academies Press. This book was released on 2011-01-16 with total page 106 pages. Available in PDF, EPUB and Kindle. Book excerpt: Today, scores of companies, primarily in the United States and Europe, are offering whole genome scanning services directly to the public. The proliferation of these companies and the services they offer demonstrate a public appetite for this information and where the future of genetics may be headed; they also demonstrate the need for serious discussion about the regulatory environment, patient privacy, and other policy implications of direct-to-consumer (DTC) genetic testing. Rapid advances in genetic research already have begun to transform clinical practice and our understanding of disease progression. Existing research has revealed a genetic basis or component for numerous diseases, including Parkinson's disease, Alzheimer's disease, diabetes, heart disease, and several forms of cancer. The availability of the human genome sequence and the HapMap, plummeting costs of high-throughput screening, and increasingly sophisticated computational analyses have led to an explosion of discoveries of linkages between patterns of genetic variation and disease susceptibility. While this research is by no means a straight path toward better public health, improved knowledge of the genetic linkages has the potential to change fundamentally the way health professionals and public health practitioners approach the prevention and treatment of disease. Realizing this potential will require greater sophistication in the interpretation of genetic tests, new training for physicians and other diagnosticians, and new approaches to communicating findings to the public. As this rapidly growing field matures, all of these questions require attention from a variety of perspectives. To discuss some of the foregoing issues, several units of the National Academies held a workshop on August 31 and September 1, 2009, to bring together a still-developing community of professionals from a variety of relevant disciplines, to educate the public and policy-makers about this emerging field, and to identify issues for future study. The meeting featured several invited presentations and discussions on the many technical, legal, policy, and ethical questions that such DTC testing raises, including: (1) overview of the current state of knowledge and the future research trajectory; (2) shared genes and emerging issues in privacy; (3) the regulatory framework; and (4) education of the public and the medical community.
Download or read book Genetic Toxicology Testing written by Ray Proudlock and published by Academic Press. This book was released on 2016-05-28 with total page 460 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Toxicology Testing: A Laboratory Manual presents a practical guide to genetic toxicology testing of chemicals in a GLP environment. The most commonly used assays are described, from laboratory and test design to results analysis. In a methodical manner, individual test methods are described step-by-step, along with equipment, suggested suppliers, recipes for reagents, and evaluation criteria. An invaluable resource in the lab, this book will help to troubleshoot any assay problems you may encounter to optimise quality and efficiency in your genetic toxicology tests. Genetic Toxicology Testing: A Laboratory Manual is an essential reference for those new to the genetic toxicology laboratory, or anyone involved in setting up their own. Offers practical and consistent guidance on the most commonly-performed tests and procedures in a genetic toxicology lab Describes standard genetic toxicology assays, their methodology, reagents, suppliers, and analysis of their results Includes guidance on general approaches: formulation for in vitro assays, study monitoring, and Good Laboratory Practice (GLP) Serves as an essential reference for those new to the genetic toxicology laboratory, or anyone involved in setting up their own lab
Download or read book Preimplantation Genetic Testing written by Darren K. Griffin and published by CRC Press. This book was released on 2020-06-20 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preimplantation genetic testing (PGT) is now well established as a valuable treatment option for patients wishing to start or continue a family, for a range of indications from advanced maternal age to high risk of transmitting inherited disease. This text brings together contemporary thinking from international opinion leaders and will be an invaluable guide for practitioners in Reproductive Medicine wishing to keep pace with the latest developments and clinical data.
Download or read book A Guide to Genetic Counseling written by Wendy R. Uhlmann and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 644 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.
Download or read book Consumer Genetic Technologies written by I. Glenn Cohen and published by Cambridge University Press. This book was released on 2021-09-16 with total page 303 pages. Available in PDF, EPUB and Kindle. Book excerpt: Examines the ethical, legal, and regulatory challenges presented as genomics become commonplace, easily available consumer products.
Download or read book The Family Tree Guide to DNA Testing and Genetic Genealogy written by Blaine T. Bettinger and published by Penguin. This book was released on 2019-08-13 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: Unlock the family secrets in your DNA! Discover the answers to your family history mysteries using the most cutting edge tool available. This plain-English guide (newly updated and expanded to include th latest DNA developments) will teach you what DNA tests are available; the pros and cons of the major testing companies; and how to choose the right test to answer your specific genealogy questions. And once you've taken a DNA test, this guide will help you use your often-overwhelming results, with tips for understanding ethnicity estimates, navigating suggested cousin matches, and using third-party tools like GEDmatch to further analyze your data. The book features: · Colorful diagrams and expert definitions that explain key DNA terms and concepts such as haplogroups and DNA inheritance patterns · Detailed guides to each of the major kinds of DNA tests and tips for selecting the DNA test that can best help you solve your family mysteries, with case studies showing how each can be useful · Information about third-party tools you can use to more thoroughly analyze your test results once you've received them · Test comparison guides and research forms to help you select the most appropriate DNA test and organize your results · Insights into how adoptees and others who know little about their ancestry can benefit from DNA testing Whether you've just heard of DNA testing or you've tested at all three major companies, this guide will give you the tools you need to unpuzzle your DNA and discover what it can tell you about your family tree.
Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
Download or read book Saving Babies written by Stefan Timmermans and published by University of Chicago Press. This book was released on 2013 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: It has been close to six decades since Watson and Crick discovered the structure of DNA and more than ten years since the human genome was decoded. Today, through the collection and analysis of a small blood sample, every baby born in the United States is screened for more than fifty genetic disorders. Though the early detection of these abnormalities can potentially save lives, the test also has a high percentage of false positives—inaccurate results that can take a brutal emotional toll on parents before they are corrected. Now some doctors are questioning whether the benefits of these screenings outweigh the stress and pain they sometimes produce. In Saving Babies?, Stefan Timmermans and Mara Buchbinder evaluate the consequences and benefits of state-mandated newborn screening—and the larger policy questions they raise about the inherent inequalities in American medical care that limit the effectiveness of this potentially lifesaving technology. Drawing on observations and interviews with families, doctors, and policy actors, Timmermans and Buchbinder have given us the first ethnographic study of how parents and geneticists resolve the many uncertainties in screening newborns. Ideal for scholars of medicine, public health, and public policy, this book is destined to become a classic in its field.
