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The fourth, completely revised edition of this classic reference and textbook presents a cohesive and up-to-date exposition of the concepts, results, and problems underlying theory and practice in human and medical genetics. In the 10 years since the appearance of the third edition, many new insights have emerged for understanding the genetic basis of development and function in human health and disease. Human genetics, with its emphasis on molecular concepts and techniques, has become a key discipline in medicine and the biomedical sciences. The fourth edition has been extensively expanded by new chapters on timely topics such as epigenetics, pharmacogenetics, gene therapy, cloning, and genetic epidemiology, and databases for basic and clinical genetics. In addition a multi/chapter section giving an overview on the main model organisms (mouse, dog, worm, fly, fish) used in human genetics research has been introduced. This book will be of interest to human and medical geneticists, scientists in all biomedical sciences, physicians and epidemiologists, as well as to graduate and postgraduate students who desire to learn the fundamentals of this fascinating field.

Genetics, Medical. --- Human genetics. --- Human genetics --- Medicine --- Biology --- Health Occupations --- Biological Science Disciplines --- Genetics, Medical --- Genetics --- Natural Science Disciplines --- Disciplines and Occupations --- Health & Biological Sciences --- Pathology --- Genetics. --- Medicine. --- Biomedicine. --- Human Genetics. --- Heredity, Human --- Human biology --- Physical anthropology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Xenética humana

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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, financing and more. Among the important issues covered are quality control in genetic testing; appropriate roles for public agencies, private health practitioners, research laboratories and centers, and companies involved in testing; value-neutral education and counseling for persons considering testing; professional and public education; access to test results for insurance, employment, and other uses.

Medical genetics --- Human chromosome abnormalities --- Medical policy --- Probability --- Epidemiologic Measurements --- Organizations --- Cytogenetic Analysis --- Forensic Psychiatry --- Genetic Services --- Patient Rights --- Diagnostic Techniques and Procedures --- Communication --- Risk Management --- Investigative Techniques --- Health Surveys --- Causality --- Infant --- Laboratory Techniques and Procedures --- Genetic Techniques --- Psychology, Social --- Public Health --- Ethics --- Social Control Policies --- Diagnostic Services --- Persons --- Age Factors --- Diagnostic Techniques, Obstetrical and Gynecological --- Public Health Practice --- Genotype --- Age Groups --- Jurisprudence --- Medicine --- Insurance --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Organization and Administration --- Health Care Facilities, Manpower, and Services --- Sociology --- Biology --- Health Care Economics and Organizations --- Social Sciences --- Health Facilities --- Economics --- Health Care Evaluation Mechanisms --- Occupational Groups --- Mathematics --- Epidemiologic Methods --- Educational Measurement --- Weights and Measures --- North America --- Information Science --- Science --- Anthropology, Education, Sociology and Social Phenomena --- Data Collection --- Mathematical Concepts --- Behavior --- Behavior and Behavior Mechanisms --- Natural Science Disciplines --- Diseases --- Human Rights --- Policy --- Epidemiologic Factors --- Health Services --- Preventive Health Services --- Health Care --- Psychiatry --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Diagnosis --- Named Groups --- Health Services Administration --- Quality of Health Care --- Financing, Organized --- Americas --- Health Care Quality, Access, and Evaluation --- Humanities --- Health Occupations --- Genetic Phenomena --- Biological Science Disciplines --- Environment and Public Health --- Disciplines and Occupations --- Geographic Locations --- Community Health Services --- Psychiatry and Psychology --- Behavioral Sciences --- Phenomena and Processes --- Geographicals --- Behavioral Disciplines and Activities --- Genetic Testing --- Infant, Newborn --- Informed Consent --- Reference Standards --- Risk Assessment --- Age of Onset --- Confidentiality --- Government --- Mass Screening --- Risk Factors --- Federal Government --- Genetic Counseling --- Government Regulation --- Human Experimentation --- Public Policy --- Risk --- Sex Determination Analysis --- Statistics as Topic --- Policy Making --- Prejudice --- Financial Support --- Health Personnel --- Social Control, Formal --- State Government --- Genetics, Medical --- Information Dissemination --- Minority Groups --- Prenatal Diagnosis --- Education --- Insurance, Health --- Minors --- Adolescent --- Genetics --- Health Policy --- Heterozygote --- Laboratories --- Research --- Voluntary Programs --- Biomedical Research --- Advisory Committees --- Information Services --- Professional Competence --- Chromosome Mapping --- Conflict of Interest --- Family --- Adult --- Epidemiology --- Genetic Diseases, Inborn --- United States --- Health & Biological Sciences --- Pathology --- Social aspects --- -Human chromosome abnormalities --- -Medical policy --- -#GBIB:CBMER --- genetische test (genetische zelftest) --- genetische screening --- genetische counseling --- genetisch onderzoek --- Health care policy --- Health policy --- Medical care --- Medicine and state --- Policy, Medical --- Public health --- Public health policy --- State and medicine --- Science and state --- Social policy --- Human chromosomes --- Chromosome abnormalities --- Genetic disorders --- Clinical genetics --- Heredity of disease --- Human genetics --- Medical sciences --- -Social aspects --- test génétique (autotest génétique) --- dépistage génétique --- conseil génétique --- recherche génétique --- Government policy --- Abnormalities --- Genetic aspects --- Hereditary Diseases --- Risk Factors. --- Social aspects. --- United States. --- epidemiology. --- genetics. --- Epidemiology. --- Genetics. --- #GBIB:CBMER --- Diagnosis&delete&