While some theorists argue that medicine is caught in a relentless process of ‘geneticization’ and others offer a thesis of biomedicalization, there is still little research that explores how these effects are accomplished in practice. Joanna Latimer, whose groundbreaking ethnography on acute medicine gave us the social science classic The Conduct of Care, moves her focus from the bedside to the clinic in this in-depth study of genetic medicine. Against current thinking that proselytises the rise of laboratory science, Professor Latimer shows how the genetic clinic is at the heart of the revolution in the new genetics. Tracing how work on the abnormal in an embryonic genetic science, dysmorphology, is changing our thinking about the normal, The Gene, the Clinic, and the Family charts new understandings about family, procreation and choice. Far from medicine experiencing the much-proclaimed ‘death of the clinic’, this book shows how medicine is both reasserting its status as a science and revitalising its dominance over society, not only for now but for societies in the future. This book will appeal to students, scholars and professionals interested in medical sociology, science and technology studies, the anthropology of science, medical science and genetics, as well as genetic counselling.

This book moves the focus from the bedside to the clinic in this in-depth study of genetic medicine. Against current thinking that proselytises the rise of laboratory science, Professor Latimer shows how the genetic clinic is at the heart of the revolution in the new genetics. Tracing how work on the abnormal in an embryonic genetic science, dysmorphology, is changing our thinking about the normal, The Gene, the Clinic, and the Family charts new understandings about family, procreation and choice.

HELPS YOU DEVELOP AND ASSESS PEDIGREES TO MAKE DIAGNOSES, EVALUATE RISK, AND COUNSEL PATIENTS The Second Edition of The Practical Guide to the Genetic Family History not only shows how to take a medical-family history and record a pedigree, but also explains why each bit of information gathered is important. It provides essential support in diagnosing conditions with a genetic component. Moreover, it aids in recommending genetic testing, referring patients for genetic counseling, determining patterns of inheritance, calculating risk of disease, making decisions for medical management and surveillance, and informing and educating patients. Based on the author's twenty-five years as a genetic counselor, the book also helps readers deal with the psychological, social, cultural, and ethical problems that arise in gathering a medical-family history and sharing findings with patients. Featuring a new Foreword by Arno Motulsky, widely recognized as the founder of medical genetics, and completely updated to reflect the most recent findings in genetic medicine, this Second Edition presents the latest information and methods for preparing and assessing a pedigree, including: Value and utility of a thorough medical-family history Directed questions to ask when developing a medical-family history for specific disease conditions Use of pedigrees to identify individuals with an increased susceptibility to cancer Verification of family medical information Special considerations when adoptions or gamete donors are involved Ethical issues that may arise in recording a pedigree Throughout the book, clinical examples based on hypothetical families illustrate key concepts, helping readers understand how real issues present themselves and how they can be resolved. This book will enable all healthcare providers, including physicians, nurses, medical social workers, and physician assistants, as well as genetic counselors, to take full advantage of the pedigree as a primary tool for making a genetic risk assessment and providing counseling for patients and their families.

The #1 NEW YORK TIMES Bestseller The basis for the PBS Ken Burns Documentary The Gene: An Intimate History Now includes an excerpt from Siddhartha Mukherjee’s new book Song of the Cell! From the Pulitzer Prize–winning author of The Emperor of All Maladies—a fascinating history of the gene and “a magisterial account of how human minds have laboriously, ingeniously picked apart what makes us tick” (Elle). “Sid Mukherjee has the uncanny ability to bring together science, history, and the future in a way that is understandable and riveting, guiding us through both time and the mystery of life itself.” —Ken Burns “Dr. Siddhartha Mukherjee dazzled readers with his Pulitzer Prize-winning The Emperor of All Maladies in 2010. That achievement was evidently just a warm-up for his virtuoso performance in The Gene: An Intimate History, in which he braids science, history, and memoir into an epic with all the range and biblical thunder of Paradise Lost” (The New York Times). In this biography Mukherjee brings to life the quest to understand human heredity and its surprising influence on our lives, personalities, identities, fates, and choices. “Mukherjee expresses abstract intellectual ideas through emotional stories…[and] swaddles his medical rigor with rhapsodic tenderness, surprising vulnerability, and occasional flashes of pure poetry” (The Washington Post). Throughout, the story of Mukherjee’s own family—with its tragic and bewildering history of mental illness—reminds us of the questions that hang over our ability to translate the science of genetics from the laboratory to the real world. In riveting and dramatic prose, he describes the centuries of research and experimentation—from Aristotle and Pythagoras to Mendel and Darwin, from Boveri and Morgan to Crick, Watson and Franklin, all the way through the revolutionary twenty-first century innovators who mapped the human genome. “A fascinating and often sobering history of how humans came to understand the roles of genes in making us who we are—and what our manipulation of those genes might mean for our future” (Milwaukee Journal-Sentinel), The Gene is the revelatory and magisterial history of a scientific idea coming to life, the most crucial science of our time, intimately explained by a master. “The Gene is a book we all should read” (USA TODAY).

Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine. - Clearly explains central concepts of genetic testing and genomic medicine for non-genetic physicians, healthcare providers, and trainees - Offers clear steps for clinical integration of genetic concepts, genomic technology, and interpretation of genetic test results approachable and relevant to clinical practice - Descriptive, applied case studies illustrate recommended genetic evaluation, counseling and management for a range of conditions throughout the lifetime

This issue of Heart Failure Clinics--edited by Drs. Giuseppe Limongelli, Sharlene Day, and Perry Elliott--will cover Clinical and Molecular Aspects of Cardiomyopathies: On the Road from Gene to Therapy. Topics include, but are not limited to, Epidemiology and Clinical aspects of Genetic Cardiomyopathies, Existing and New therapies, Gene editing and gene-based therapeutics, Controversies surrounding exercise in genetic cardiomyopathies, Genetic infiltrative cardiomyopathies, LV Noncompaction, Clinical presentation and natural history of hypertrophic cardiomyopathy in Rasopathies, and Moelcular basis and new treatments of cardiac diseases in Rasopathies.

The discovery of the two inherited susceptibility genes BRCA1 and BRCA2 in the mid-1990s created the possibility of predictive genetic testing and led to the establishment of specific medical programmes for those at high risk of developing breast cancer in the UK, US and Europe. The book provides a coherent structure for examining the diversity of practices and discourses that surround developments linked to BRCA genetics, and to the evolving field of genetics more broadly. It will be of interest to students and scholars of anthropology, sociology, history of science, STS, public health and bioethics. Chapter 8 of this book is freely available as a downloadable Open Access PDF at http://www.taylorfrancis.com under a Creative Commons Attribution-Non Commercial-No Derivatives (CC-BY-NC-ND) 3.0 license.

Written by seasoned faculty at the Mayo Clinic, this Seventh Edition is a completely revised and updated study tool that has proven invaluable for the American Board of Internal Medicine certification or recertification. Using this source, readers will access a virtual blueprint for exam preparation and acquire clear guidance on question format, types of questions, and hints on topics commonly encountered on the test.

The Oxford Handbook of Clinical Medicine is a guiding star for all medical students, junior doctors and trainees. The Key references are clearly identified for each subject, representing the essential reading that underpins each area.

Birth defects are one of the major public health concerns in the world, as they cause approximately 20% of infant deaths. Genetic disorders, including chromosome abnormalities and single gene disorders, are the most common causes of birth defects for which there is no efficient treatment. Prenatal genetic screening and diagnosis allow early identification of affected conceptuses and facilitates reproduction planning or counseling. Molecular technologies have developed rapidly in recent years and have been widely used in screening and diagnosis of genetic disorders at all stages of prenatal development (e.g. pre-implantation, embryonic and fetal). However, their performance still needs to be validated and assessed as the balance between their advantages and disadvantages need to be discussed. With the ability to detect copy number variations (CNVs), polyploidy, uniparental disomy and maternal cell contamination, SNP-based chromosomal microarray analysis (CMA) is showing the unique importance in diagnosing chromosomal abnormalities. The interpretation of CNVs remains a challenge; however, ultrasound and biochemical screening improve the diagnosis of fetal chromosomal abnormalities. Whole exome sequencing (WES) and whole genome sequencing (WGS) play increasingly significant roles in prenatal and carrier screening for genetic disorders. NGS-based non-invasive prenatal screening (NIPS) is now widely used for detecting common autosomal aneuploidies and has shown the potential of detecting microdeletions and microduplications. However, further investigations of the sensitivity and accuracy are required and large-scale data is necessary to evaluate the performance and clinical applications of current and new methods. Recently, reports of application of newer technologies in prenatal setting became available. Examples include third generation sequencing (reading the nucleotide sequences at the single molecule level), digital PCR (used for direct quantification of DNA) and cell-based NIPT. In the followed listed papers, the authors showed their successful experiences in identifying novel mutation, detecting low-level mosaicism or de novo mutations limited in germline cells, investigating the association of the CNVs with specific phenotypic alterations by using WES, CMA, digital PCR and some other new-developed molecular techniques. More interesting, the authors also presented a report about the evaluation of diagnostic yield in fetal WES, which suggested a new tendency to apply WES or WGS directly for prenatal diagnosis. We believed that the efficiency of scanning causative mutations and prenatal or preimplantion genetic diagnosis for genetic disorders will further improved based on the technologies of whole genomic sequencing with further improved output and resolution. New techniques, such as quick-WES for the newborn in intensive care unit, direct-WGS for prenatal diagnosis and non-invasive test for fetal monogenic disorders, will become available in the near future.