An Evidence Framework for Genetic Testing

An Evidence Framework for Genetic Testing

Author: National Academies of Sciences, Engineering, and Medicine

Publisher: National Academies Press

Published: 2017-04-21

Total Pages: 149

ISBN-13: 0309453291

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


Genetics for Surgeons

Genetics for Surgeons

Author: Patrick John Morrison

Publisher: Remedica

Published: 2005

Total Pages: 237

ISBN-13: 1901346692

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Morrison (human genetics, University of Ulster, UK) and Spence (biomedical science, University of Ulster, UK) offer an accessible reference on the genetic disorders that surgeons can expect to meet in general surgical practice. Written in non-technical language, with a glossary, list of abbreviations, and color and b&w photos and medical images, the book supplies an introduction to the nomenclature and technology of molecular biology, and will be a useful starting point for those who wish to extend their knowledge. Annotation :2005 Book News, Inc., Portland, OR (booknews.com).


Biosocial Surveys

Biosocial Surveys

Author: National Research Council

Publisher: National Academies Press

Published: 2008-01-06

Total Pages: 429

ISBN-13: 0309108675

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Biosocial Surveys analyzes the latest research on the increasing number of multipurpose household surveys that collect biological data along with the more familiar interviewerâ€"respondent information. This book serves as a follow-up to the 2003 volume, Cells and Surveys: Should Biological Measures Be Included in Social Science Research? and asks these questions: What have the social sciences, especially demography, learned from those efforts and the greater interdisciplinary communication that has resulted from them? Which biological or genetic information has proven most useful to researchers? How can better models be developed to help integrate biological and social science information in ways that can broaden scientific understanding? This volume contains a collection of 17 papers by distinguished experts in demography, biology, economics, epidemiology, and survey methodology. It is an invaluable sourcebook for social and behavioral science researchers who are working with biosocial data.


Understanding Racial and Ethnic Differences in Health in Late Life

Understanding Racial and Ethnic Differences in Health in Late Life

Author: National Research Council

Publisher: National Academies Press

Published: 2004-09-08

Total Pages: 184

ISBN-13: 0309165865

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As the population of older Americans grows, it is becoming more racially and ethnically diverse. Differences in health by racial and ethnic status could be increasingly consequential for health policy and programs. Such differences are not simply a matter of education or ability to pay for health care. For instance, Asian Americans and Hispanics appear to be in better health, on a number of indicators, than White Americans, despite, on average, lower socioeconomic status. The reasons are complex, including possible roles for such factors as selective migration, risk behaviors, exposure to various stressors, patient attitudes, and geographic variation in health care. This volume, produced by a multidisciplinary panel, considers such possible explanations for racial and ethnic health differentials within an integrated framework. It provides a concise summary of available research and lays out a research agenda to address the many uncertainties in current knowledge. It recommends, for instance, looking at health differentials across the life course and deciphering the links between factors presumably producing differentials and biopsychosocial mechanisms that lead to impaired health.


Genes, Behavior, and the Social Environment

Genes, Behavior, and the Social Environment

Author: Institute of Medicine

Publisher: National Academies Press

Published: 2006-11-07

Total Pages: 384

ISBN-13: 0309133815

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Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.


Medical Genetics

Medical Genetics

Author: G. Bradley Schaefer

Publisher: McGraw Hill Professional

Published: 2013-11-22

Total Pages: 385

ISBN-13: 0071819282

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A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.


The Selfish Gene

The Selfish Gene

Author: Richard Dawkins

Publisher: Oxford University Press, USA

Published: 1989

Total Pages: 372

ISBN-13: 9780192860927

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Science need not be dull and bogged down by jargon, as Richard Dawkins proves in this entertaining look at evolution. The themes he takes up are the concepts of altruistic and selfish behaviour; the genetical definition of selfish interest; the evolution of aggressive behaviour; kinshiptheory; sex ratio theory; reciprocal altruism; deceit; and the natural selection of sex differences. 'Should be read, can be read by almost anyone. It describes with great skill a new face of the theory of evolution.' W.D. Hamilton, Science


Systems Genetics

Systems Genetics

Author: Florian Markowetz

Publisher: Cambridge University Press

Published: 2015-07-02

Total Pages: 287

ISBN-13: 131638098X

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Whereas genetic studies have traditionally focused on explaining heritance of single traits and their phenotypes, recent technological advances have made it possible to comprehensively dissect the genetic architecture of complex traits and quantify how genes interact to shape phenotypes. This exciting new area has been termed systems genetics and is born out of a synthesis of multiple fields, integrating a range of approaches and exploiting our increased ability to obtain quantitative and detailed measurements on a broad spectrum of phenotypes. Gathering the contributions of leading scientists, both computational and experimental, this book shows how experimental perturbations can help us to understand the link between genotype and phenotype. A snapshot of current research activity and state-of-the-art approaches to systems genetics are provided, including work from model organisms such as Saccharomyces cerevisiae and Drosophila melanogaster, as well as from human studies.


The Genetic Lottery

The Genetic Lottery

Author: Kathryn Paige Harden

Publisher: Princeton University Press

Published: 2021-09-21

Total Pages: 312

ISBN-13: 0691190801

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A provocative and timely case for how the science of genetics can help create a more just and equal society In recent years, scientists like Kathryn Paige Harden have shown that DNA makes us different, in our personalities and in our health—and in ways that matter for educational and economic success in our current society. In The Genetic Lottery, Harden introduces readers to the latest genetic science, dismantling dangerous ideas about racial superiority and challenging us to grapple with what equality really means in a world where people are born different. Weaving together personal stories with scientific evidence, Harden shows why our refusal to recognize the power of DNA perpetuates the myth of meritocracy, and argues that we must acknowledge the role of genetic luck if we are ever to create a fair society. Reclaiming genetic science from the legacy of eugenics, this groundbreaking book offers a bold new vision of society where everyone thrives, regardless of how one fares in the genetic lottery.


A Troublesome Inheritance

A Troublesome Inheritance

Author: Nicholas Wade

Publisher: Penguin

Published: 2014-05-06

Total Pages: 249

ISBN-13: 0698163796

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Drawing on startling new evidence from the mapping of the genome, an explosive new account of the genetic basis of race and its role in the human story Fewer ideas have been more toxic or harmful than the idea of the biological reality of race, and with it the idea that humans of different races are biologically different from one another. For this understandable reason, the idea has been banished from polite academic conversation. Arguing that race is more than just a social construct can get a scholar run out of town, or at least off campus, on a rail. Human evolution, the consensus view insists, ended in prehistory. Inconveniently, as Nicholas Wade argues in A Troublesome Inheritance, the consensus view cannot be right. And in fact, we know that populations have changed in the past few thousand years—to be lactose tolerant, for example, and to survive at high altitudes. Race is not a bright-line distinction; by definition it means that the more human populations are kept apart, the more they evolve their own distinct traits under the selective pressure known as Darwinian evolution. For many thousands of years, most human populations stayed where they were and grew distinct, not just in outward appearance but in deeper senses as well. Wade, the longtime journalist covering genetic advances for The New York Times, draws widely on the work of scientists who have made crucial breakthroughs in establishing the reality of recent human evolution. The most provocative claims in this book involve the genetic basis of human social habits. What we might call middle-class social traits—thrift, docility, nonviolence—have been slowly but surely inculcated genetically within agrarian societies, Wade argues. These “values” obviously had a strong cultural component, but Wade points to evidence that agrarian societies evolved away from hunter-gatherer societies in some crucial respects. Also controversial are his findings regarding the genetic basis of traits we associate with intelligence, such as literacy and numeracy, in certain ethnic populations, including the Chinese and Ashkenazi Jews. Wade believes deeply in the fundamental equality of all human peoples. He also believes that science is best served by pursuing the truth without fear, and if his mission to arrive at a coherent summa of what the new genetic science does and does not tell us about race and human history leads straight into a minefield, then so be it. This will not be the last word on the subject, but it will begin a powerful and overdue conversation.