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"It will be the basic aim of this book," writes Peter J. Bridge, "to impart to the reader the fundamentals of how we start with laboratory results and end up with numbers representing genetic risks." This practical guide for both clinical and research geneticists explains how to calculate an individual's genetic risk based on information available from genetic testing and from family pedigrees. Bridge begins with the general theory of estimating genetic risks, then progresses through familial and isolated cases, both simple and complex. A major strength of the book lies in the wealth of worked examples provided throughout the text. The disorders are selected to be widely applicable or adaptable as needed. New to this edition are sections on consanguinity, multipoint linkage analysis, nonparametric methods, homozygosity mapping, and physical mapping. Also new is a chapter on other DNA-based calculations, including sections on paternity, zygosity, family reconstructions, and quantification of mitochondrial mutations. From reviews of the first edition: "To use a computer package intelligently and safely, you need to have in reserve the ability to do the calculation by hand, at least approximately, so as to appreciate which factors contribute to the risk. And the current computer packages cannot cope with several factors which can crucially affect the final risk, such as germinal mosaicism or the risk of maternal cell contamination... Bridge's book is very thorough. Every combination of pedigree structure and marker data is discussed, with numerous tables showing the result of systematically varying one or more parameters." -- Journal of Medical Genetics "A useful reference book."-- American Journal of Human Genetics
Genetic counselling is widely accepted as an integral part of the management of every patient with an inherited disorder. This book describes in detail how risks can be estimated or calculated for most counselling situations, using nothing more complex than a knowledge of the simple laws of probability and a pocket calculator. All patterns of inheritance are considered. Particular attention is paid to the segregation of balanced chromosome rearrangements and risk calculation in single gene inheritance taking into account factors such as reduced penetrance, late age of onset, consanguinity and the extended family. The use of linked markers -- an area of rapidly increasing importance in carrier detection and prenatal diagnosis -- is also covered at length. The text has been written in a straightforward, "user-friendly" style with liberal use of worked examples and will be of benefit to everyone involved in the provision and delivery of genetic counselling services.
In third edition of this clear, reader-friendly guide, the author addresses the challenge of calculations in genetic counseling and demonstrates how risk can be estimated for inherited disorders using a basic knowledge of the laws of probability and their application to clinical problems. The text employs a wealth of clearly explained examples and "key points" in order to guide the reader to an accurate assessment of the risk of genetic disease.
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.
Research on gene drive systems is rapidly advancing. Many proposed applications of gene drive research aim to solve environmental and public health challenges, including the reduction of poverty and the burden of vector-borne diseases, such as malaria and dengue, which disproportionately impact low and middle income countries. However, due to their intrinsic qualities of rapid spread and irreversibility, gene drive systems raise many questions with respect to their safety relative to public and environmental health. Because gene drive systems are designed to alter the environments we share in ways that will be hard to anticipate and impossible to completely roll back, questions about the ethics surrounding use of this research are complex and will require very careful exploration. Gene Drives on the Horizon outlines the state of knowledge relative to the science, ethics, public engagement, and risk assessment as they pertain to research directions of gene drive systems and governance of the research process. This report offers principles for responsible practices of gene drive research and related applications for use by investigators, their institutions, the research funders, and regulators.
This book reevaluates the health risks of ionizing radiation in light of data that have become available since the 1980 report on this subject was published. The data include new, much more reliable dose estimates for the A-bomb survivors, the results of an additional 14 years of follow-up of the survivors for cancer mortality, recent results of follow-up studies of persons irradiated for medical purposes, and results of relevant experiments with laboratory animals and cultured cells. It analyzes the data in terms of risk estimates for specific organs in relation to dose and time after exposure, and compares radiation effects between Japanese and Western populations.
The second edition of Genetic Counseling Practice: Advanced Concepts and Skills, provides in-depth content regarding the advanced competencies for meeting patient needs across the changing landscape of genetic counseling practice. The content aligns with the Reciprocal Engagement Model (REM) of practice which integrates the biomedical knowledge and psychosocial aspects of genetic counseling. This edition has been revised and expanded to reflect advances made in the present-day field. Edited by a team two genetic counselors and a psychologist, the chapters offer a holistic picture of genetic counseling. Chapter authors are all recognized experts in the profession. The chapters are grounded in evidence-based practice and research. Each chapter includes learning activities to help readers apply concepts and skills. Featured topic areas include: Meeting the needs of culturally diverse patients Addressing challenging patient dynamics Working with children, adolescents and families Using emerging service delivery models for genetic counseling Engaging in self-reflective, deliberate practice Promoting genetic counselor professional development Genetic Counseling Practice is an indispensable guide to the complex and evolving field of genetic counseling, and this updated second edition will help practitioners and trainees alike navigate its most pressing and practical challenges with skill and care.
This book is the seventh in a series of titles from the National Research Council that addresses the effects of exposure to low dose LET (Linear Energy Transfer) ionizing radiation and human health. Updating information previously presented in the 1990 publication, Health Effects of Exposure to Low Levels of Ionizing Radiation: BEIR V, this book draws upon new data in both epidemiologic and experimental research. Ionizing radiation arises from both natural and man-made sources and at very high doses can produce damaging effects in human tissue that can be evident within days after exposure. However, it is the low-dose exposures that are the focus of this book. So-called “late” effects, such as cancer, are produced many years after the initial exposure. This book is among the first of its kind to include detailed risk estimates for cancer incidence in addition to cancer mortality. BEIR VII offers a full review of the available biological, biophysical, and epidemiological literature since the last BEIR report on the subject and develops the most up-to-date and comprehensive risk estimates for cancer and other health effects from exposure to low-level ionizing radiation.
At the beginning of the twentieth century, H. G. Wells predicted that statistical thinking would be as necessary for citizenship in a technological world as the ability to read and write. But in the twenty-first century, we are often overwhelmed by a baffling array of percentages and probabilities as we try to navigate in a world dominated by statistics. Cognitive scientist Gerd Gigerenzer says that because we haven't learned statistical thinking, we don't understand risk and uncertainty. In order to assess risk -- everything from the risk of an automobile accident to the certainty or uncertainty of some common medical screening tests -- we need a basic understanding of statistics. Astonishingly, doctors and lawyers don't understand risk any better than anyone else. Gigerenzer reports a study in which doctors were told the results of breast cancer screenings and then were asked to explain the risks of contracting breast cancer to a woman who received a positive result from a screening. The actual risk was small because the test gives many false positives. But nearly every physician in the study overstated the risk. Yet many people will have to make important health decisions based on such information and the interpretation of that information by their doctors. Gigerenzer explains that a major obstacle to our understanding of numbers is that we live with an illusion of certainty. Many of us believe that HIV tests, DNA fingerprinting, and the growing number of genetic tests are absolutely certain. But even DNA evidence can produce spurious matches. We cling to our illusion of certainty because the medical industry, insurance companies, investment advisers, and election campaigns have become purveyors of certainty, marketing it like a commodity. To avoid confusion, says Gigerenzer, we should rely on more understandable representations of risk, such as absolute risks. For example, it is said that a mammography screening reduces the risk of breast cancer by 25 percent. But in absolute risks, that means that out of every 1,000 women who do not participate in screening, 4 will die; while out of 1,000 women who do, 3 will die. A 25 percent risk reduction sounds much more significant than a benefit that 1 out of 1,000 women will reap. This eye-opening book explains how we can overcome our ignorance of numbers and better understand the risks we may be taking with our money, our health, and our lives.
Stroke is a major cause of death and the major cause of adult neurological disability in most of the world. Despite its importance on a population basis, research into the genetics of stroke has lagged behind that of many other disorders. However, the situation is now changing. An increasing number of single gene disorders causing stroke are being described, and there is growing evidence that polygenic factors are important in the risk of apparently "sporadic" stroke. Stroke Genetics provides an up-to-date review of the area, suitable for clinicians treating stroke patients, and both clinical and non-clinical researchers in the field of cerebrovascular disease. The full range of monogenic stroke disorders causing cerebrovascular disease, including ischaemic stroke, intracerebral haemorrhage, aneurysms and arteriovenous malformations, are covered. For each, clinical features, diagnosis, and genetics are described. Increasing evidence suggest that genetic factors are also important for the much more common multifactorial stroke; this evidence is reviewed along with the results of genetic studies in this area. Optimal and novel strategies for investigating multifactorial stroke, including the use of intermediate phenotypes such as intima-media thickness and MRI detected small vessel disease are reviewed. The book concludes by describing a practical approach to investigating patients with stroke for underlying genetic disorders. Also included is a list of useful websites.