Building Genetic Medicine
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Building Genetic Medicine
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Author : Shobita Parthasarathy
language : en
Publisher: MIT Press
Release Date : 2012-01-13
Building Genetic Medicine written by Shobita Parthasarathy and has been published by MIT Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-01-13 with Science categories.
A comparative study of genetic testing for breast and ovarian cancer in the United States and Britain that shows the importance of national context in the development and use of science and technology even in an era of globalization. In Building Genetic Medicine, Shobita Parthasarathy shows how, even in an era of globalization, national context is playing an important role in the development and use of genetic technologies. Focusing on the development and deployment of genetic testing for breast and ovarian cancer (known as BRCA testing) in the United States and Britain, Parthasarathy develops a comparative analysis framework in order to investigate how national “toolkits” shape both regulations and the architectures of technologies and uses this framework to assess the implications of new genetic technologies. Parthasarathy argues that differences in the American and British approaches to health care and commercialization of research led to the establishment of different BRCA services in the two countries. In Britain, the technology was available through the National Health Service as an integrated program of counseling and laboratory analysis, and was viewed as a potentially cost-effective form of preventive care. In the United States, although BRCA testing was initially offered by a number of providers, one company eventually became the sole provider of a test available to consumers on demand. Parthasarathy draws lessons for the future of genetic medicine from these cross-national differences, and discusses the ways in which comparative case studies can inform policy-making efforts in science and technology.
Life Histories Of Genetic Disease
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Author : Andrew J. Hogan
language : en
Publisher: Johns Hopkins University Press+ORM
Release Date : 2016-10-30
Life Histories Of Genetic Disease written by Andrew J. Hogan and has been published by Johns Hopkins University Press+ORM this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-10-30 with Medical categories.
A richly detailed history that “uncovers the challenges and limitations of our increasing reliance on genetic data in medical decision making” (Shobita Parthasarathy, author of Building Genetic Medicine). Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing expectant parents to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In this book, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies offer whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.
Medical Genetics
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Author : G. Bradley Schaefer
language : en
Publisher: McGraw Hill Professional
Release Date : 2013-11-22
Medical Genetics written by G. Bradley Schaefer and has been published by McGraw Hill Professional this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-11-22 with Medical categories.
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.
Toward Precision Medicine
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Author : National Research Council
language : en
Publisher: National Academies Press
Release Date : 2012-01-16
Toward Precision Medicine written by National Research Council and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-01-16 with Medical categories.
Motivated by the explosion of molecular data on humans-particularly data associated with individual patients-and the sense that there are large, as-yet-untapped opportunities to use this data to improve health outcomes, Toward Precision Medicine explores the feasibility and need for "a new taxonomy of human disease based on molecular biology" and develops a potential framework for creating one. The book says that a new data network that integrates emerging research on the molecular makeup of diseases with clinical data on individual patients could drive the development of a more accurate classification of diseases and ultimately enhance diagnosis and treatment. The "new taxonomy" that emerges would define diseases by their underlying molecular causes and other factors in addition to their traditional physical signs and symptoms. The book adds that the new data network could also improve biomedical research by enabling scientists to access patients' information during treatment while still protecting their rights. This would allow the marriage of molecular research and clinical data at the point of care, as opposed to research information continuing to reside primarily in academia. Toward Precision Medicine notes that moving toward individualized medicine requires that researchers and health care providers have access to very large sets of health- and disease-related data linked to individual patients. These data are also critical for developing the information commons, the knowledge network of disease, and ultimately the new taxonomy.
Human Genome Epidemiology 2nd Edition
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Author : Muin Khoury
language : en
Publisher: Oxford University Press
Release Date : 2010-01-20
Human Genome Epidemiology 2nd Edition written by Muin Khoury and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-01-20 with Medical categories.
The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace. With contributions from leaders in the field from around the world, this new edition is a fully updated look at the ways in which genetic factors in common diseases are studied. Methodologic developments in collection, analysis and synthesis of data, as well as issues surrounding specific applications of human genomic information for medicine and public health are all discussed. In addition, the book focuses on practical applications of human genome variation in clinical practice and disease prevention. Students, clinicians, public health professionals and policy makers will find the book a useful tool for understanding the rapidly evolving methods of the discovery and use of genetic information in medicine and public health in the 21st century.
Concepts In Genetic Medicine
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Author : Boro Dropulic
language : en
Publisher: John Wiley & Sons
Release Date : 2008-01-03
Concepts In Genetic Medicine written by Boro Dropulic and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-01-03 with Medical categories.
This book delivers a collection of organized and succinct reviews in the field of therapeutic genetic medicine presented by a carefully selected group of top experts. Each chapter focuses on a single, current topic and explains issues in the development of genetic treatments, critical challenges and strategies for implementing them, and future directions in research and translational applications. The book is complemented with uniformly designed illustrations and a supplementary Web site with a PowerPoint presentation for educators.
Genomics And Clinical Medicine
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Author : Dhavendra Kumar
language : en
Publisher: Oxford University Press
Release Date : 2008-02-15
Genomics And Clinical Medicine written by Dhavendra Kumar and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-02-15 with Medical categories.
An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.
Genetic Medicine
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Author : Karl H. Muench
language : en
Publisher: McGraw-Hill/Appleton & Lange
Release Date : 1987-12-01
Genetic Medicine written by Karl H. Muench and has been published by McGraw-Hill/Appleton & Lange this book supported file pdf, txt, epub, kindle and other format this book has been release on 1987-12-01 with Medical categories.
Moments Of Truth In Genetic Medicine
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Author : M. Susan Lindee
language : en
Publisher: JHU Press
Release Date : 2008-11-24
Moments Of Truth In Genetic Medicine written by M. Susan Lindee and has been published by JHU Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-11-24 with Medical categories.
Genetic research increasingly dominates medical thought and practice in the United States and in many other industrialized nations. Susan Lindee's original study explores the institutions, disciplines, and ideas that initiated the reconfiguration of genetic medicine from a marginal field in the mid-1950s to a core research frontier of biomedicine. Tracing the work of geneticists and other experts in identifying and classifying disease during the explosive period between 1950 and 1980, Lindee identifies the individual "moments of truth" that moved the field away from its eugenic past to the center of a new world view in which nearly all disease is understood to be fundamentally genetic. She suggests that these moments of truth were experienced not only by scientists but also by those who had familial, intimate, emotional knowledge of hereditary disease: patients, family members, and research subjects. Focusing on benchmarks in the field—such as the rise of neonatal testing in the 1960s, genetic studies of unique human populations such as the Amish, the development of human cytogenetics and human behavioral genetics, and the efforts to find genes for rare diseases such as familial dysautonomia—she tracks the emergence of a biomedical consensus that nearly all disease is genetic disease. Using the success of this field as a point of entry, Lindee chronicles both the production of knowledge in biomedicine and changes in the cultural meaning of the body in the late twentieth century. She suggests that scientific knowledge is a community project that is shaped directly by people in many different social and professional locations. The power to experience and report scientific truth may be much more dispersed than it sometimes appears, because people know things about their own bodies, and their knowledge has often been incorporated into the technical infrastructure of genomic medicine. Lindee's pathbreaking study shows the interdependence of technical and social parameters in contemporary biomedicine.
Status Of Research In Genetics
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Author : National Institute of General Medical Sciences (U.S.). Genetics Training Committee
language : en
Publisher:
Release Date : 1968
Status Of Research In Genetics written by National Institute of General Medical Sciences (U.S.). Genetics Training Committee and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1968 with Genetics categories.