Genetic Testing

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Diagnostic Genetic Testing

Author : David Bourn
Publisher : Springer Nature
ISBN 13 : 3030855104
Total Pages : 145 pages
Book Rating : 4.0/5 (38 download)

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Book Synopsis Diagnostic Genetic Testing by : David Bourn

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.

Am I My Genes?

Author : Robert Klitzman
Publisher : OUP USA
ISBN 13 : 0199837163
Total Pages : 376 pages
Book Rating : 4.1/5 (998 download)

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Book Synopsis Am I My Genes? by : Robert Klitzman

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.

An Evidence Framework for Genetic Testing

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309453291
Total Pages : 149 pages
Book Rating : 4.3/5 (94 download)

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Book Synopsis An Evidence Framework for Genetic Testing by : National Academies of Sciences, Engineering, and Medicine

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.

Assessing Genetic Risks

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Assessing Genetic Risks by : Institute of Medicine

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.

Understanding Gene Testing

Author :
Publisher :
ISBN 13 :
Total Pages : 42 pages
Book Rating : 4.:/5 (327 download)

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Book Synopsis Understanding Gene Testing by :

Download or read book Understanding Gene Testing written by and published by . This book was released on 1995 with total page 42 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Heredity and Hope

Author : Ruth Schwartz COWAN
Publisher : Harvard University Press
ISBN 13 : 0674029925
Total Pages : 303 pages
Book Rating : 4.6/5 (74 download)

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Book Synopsis Heredity and Hope by : Ruth Schwartz COWAN

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.

Genetic Testing

Author : Neil F. Sharpe
Publisher : John Wiley & Sons
ISBN 13 : 0471748889
Total Pages : 622 pages
Book Rating : 4.4/5 (717 download)

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Book Synopsis Genetic Testing by : Neil F. Sharpe

Download or read book Genetic Testing written by Neil F. Sharpe and published by John Wiley & Sons. This book was released on 2006-01-20 with total page 622 pages. Available in PDF, EPUB and Kindle. Book excerpt: A complete review of the issues with specific recommendations and guidelines. With over 1,000 tests commercially available, genetic testing is revolutionizing medicine. Health care professionals diagnosing and treating patients today must consider genetic factors, the risks and limitations of genetic testing, and the relevant law. Genetic Testing: Care, Consent, and Liability offers the only complete, practical treatment of the genetic, clinical, ethical, and legal issue surrounding genetic testing. The authors present protocols, policies, and models of care that are currently in use, and explain the legal framework for genetic testing and counseling that has developed in North America, particularly with regard to the law of medical malpractice. This essential book features an international roster of esteemed contributors including, Nancy P. Callanan, Bonnie S. LeRoy, Carole H. Browner, H. Mabel Preloran, Riyana Babul-Hirji, Cheryl Shuman, M.J. Esplen, Maren T. Scheuner, Dena S. Davis, JonBeckwith, Lisa Geller, Mark A. Hall, Andrew R. MacRae, David Chitayat, Roxanne Mykitiuk, Stephanie Turnham, Mireille Lacroix, Jinger G, Hoop, Edwin H, Cook, Jr., S. H. Dinwiddie, Elliot S. Gershon, C. Anthony Rupar, Lynn Holt, Bruce R. Korf, Anne Summers, S. Annie Adams, Daniel L. Van Dyke, Rhett P. Ketterling, Erik C. Thorland, Timothy Caulfield, Lorraine Sheremeta, Richard Gold, Jon F. Merz, David Castle, Peter J. Bridge, JS Parboosingh, Patricia T. Kelly, Julianne M. O'Daniel, Allyn McConkie-Rosell, Beatrice Godard, Bartha Maria Knoppers, David Weisbrot. The coverage also includes: * Genetic screening, including prenatal, neonatal, carrier, and susceptibility testing * Diagnosis, risk assessment, confidentiality, and clinical/legal issues related to follow-up * Interpreting test results and communicating them to patients * psychological considerations * Informed consent * Family history evaluations * Referral to medical geneticists and genetic counselors Genetic Testing Care, Consent, and Liability is a must-have resource for clinical geneticists, genetic counselors, specialists, family physicians, nurses, public health professionals, and medical students.

Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder - Technical Brief Number 23

Author : Department Of Health And Human Services
Publisher :
ISBN 13 : 9781329664968
Total Pages : 0 pages
Book Rating : 4.6/5 (649 download)

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Book Synopsis Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder - Technical Brief Number 23 by : Department Of Health And Human Services

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.

Preimplantation Genetic Testing

Author : Darren K. Griffin
Publisher : CRC Press
ISBN 13 : 0429820305
Total Pages : 208 pages
Book Rating : 4.4/5 (298 download)

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Book Synopsis Preimplantation Genetic Testing by : Darren K. Griffin

Download or read book Preimplantation Genetic Testing written by Darren K. Griffin and published by CRC Press. This book was released on 2020-06-01 with total page 208 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.

Genetic Testing and the Governance of Risk in the Contemporary Economy

Author : Lara Khoury
Publisher : Springer Nature
ISBN 13 : 3030436993
Total Pages : 354 pages
Book Rating : 4.0/5 (34 download)

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Book Synopsis Genetic Testing and the Governance of Risk in the Contemporary Economy by : Lara Khoury

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.

Direct-to-Consumer Genetic Testing

Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309162165
Total Pages : 106 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Direct-to-Consumer Genetic Testing by : National Research Council

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.

The Lost Family

Author : Libby Copeland
Publisher : Abrams
ISBN 13 : 1683358937
Total Pages : 196 pages
Book Rating : 4.6/5 (833 download)

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Book Synopsis The Lost Family by : Libby Copeland

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)

Trace Your Roots with DNA

Author : Megan Smolenyak Smolenyak
Publisher : Rodale Books
ISBN 13 : 1609616162
Total Pages : 290 pages
Book Rating : 4.6/5 (96 download)

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Book Synopsis Trace Your Roots with DNA by : Megan Smolenyak Smolenyak

Download or read book Trace Your Roots with DNA written by Megan Smolenyak Smolenyak and published by Rodale Books. This book was released on 2004-10-07 with total page 290 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by two of the country's top genealogists, this is the first book to explain how new and groundbreaking genetic testing can help you research your ancestry According to American Demographics, 113 million Americans have begun to trace their roots, making genealogy the second most popular hobby in the country (after gardening). Enthusiasts clamor for new information from dozens of subscription-based websites, email newsletters, and magazines devoted to the subject. For these eager roots-seekers looking to take their searches to the next level, DNA testing is the answer. After a brief introduction to genealogy and genetics fundamentals, the authors explain the types of available testing, what kind of information the tests can provide, how to interpret the results, and how the tests work (it doesn't involve digging up your dead relatives). It's in expensive, easy to do, and the results are accurate: It's as simple as swabbing the inside of your cheek and popping a sample in the mail. Family lore has it that a branch of our family emigrated to Argentina and now I've found some people there with our name. Can testing tell us whether we're from the same family? My mother was adopted and doesn't know her ethnicity. Are there any tests available to help her learn about her heritage? I just discovered someone else with my highly unusual surname. How can we find out if we have a common ancestor? These are just a few of the types of genealogical scenarios readers can pursue. The authors reveal exactly what is possible-and what is not possible-with genetic testing. They include case studies of both famous historial mysteries and examples of ordinary folks whose exploration of genetic genealogy has enabled them to trace their roots.

Mathematical and Statistical Methods for Genetic Analysis

Author : Kenneth Lange
Publisher : Springer Science & Business Media
ISBN 13 : 0387217509
Total Pages : 376 pages
Book Rating : 4.3/5 (872 download)

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Book Synopsis Mathematical and Statistical Methods for Genetic Analysis by : Kenneth Lange

Download or read book Mathematical and Statistical Methods for Genetic Analysis written by Kenneth Lange and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written to equip students in the mathematical siences to understand and model the epidemiological and experimental data encountered in genetics research. This second edition expands the original edition by over 100 pages and includes new material. Sprinkled throughout the chapters are many new problems.

Genetic Testing

Author : Christy L. Sutton
Publisher :
ISBN 13 : 9780692950678
Total Pages : 412 pages
Book Rating : 4.9/5 (56 download)

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Book Synopsis Genetic Testing by : Christy L. Sutton

Download or read book Genetic Testing written by Christy L. Sutton and published by . This book was released on 2017-10-27 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: Focused on explaining genetic variants found through "23andMe" testing. What those variants mean, potential health risks, potential ways to work with your doctor to avoid health problems, and labs associated with each genetic variant to monitor health. It is an exploration of epigenetics, nutrigenomics, and wellness.

A Guide to Genetic Counseling

Author : Wendy R. Uhlmann
Publisher : John Wiley & Sons
ISBN 13 : 1118210530
Total Pages : 644 pages
Book Rating : 4.1/5 (182 download)

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Book Synopsis A Guide to Genetic Counseling by : Wendy R. Uhlmann

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.

Primer of Genetic Analysis

Author : James N. Thompson, Jr
Publisher : Cambridge University Press
ISBN 13 : 1139465643
Total Pages : 488 pages
Book Rating : 4.1/5 (394 download)

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Book Synopsis Primer of Genetic Analysis by : James N. Thompson, Jr

Download or read book Primer of Genetic Analysis written by James N. Thompson, Jr and published by Cambridge University Press. This book was released on 2007-10-01 with total page 488 pages. Available in PDF, EPUB and Kindle. Book excerpt: An invaluable student-tested study aid, this primer, first published in 2007, provides guided instruction for the analysis and interpretation of genetic principles and practice in problem solving. Each section is introduced with a summary of useful hints for problem solving and an overview of the topic with key terms. A series of problems, generally progressing from simple to more complex, then allows students to test their understanding of the material. Each question and answer is accompanied by detailed explanation. This third edition includes additional problems in basic areas that often challenge students, extended coverage in molecular biology and development, an expanded glossary of terms, and updated historical landmarks. Students at all levels, from beginning biologists and premedical students to graduates seeking a review of basic genetics, will find this book a valuable aid. It will complement the formal presentation in any genetics textbook or stand alone as a self-paced review manual.