Advances in medical genetics during the past two decades have made possible the detection and prevention of many genetic disorders and developmental disabilities. The emphasis of this book is on the application of these new developments to real-life situations. Covering homozygote newborn screening, heterozygote detection in the community, and pren

Brain disordersâ€"neurological, psychiatric, and developmentalâ€"now affect at least 250 million people in the developing world, and this number is expected to rise as life expectancy increases. Yet public and private health systems in developing countries have paid relatively little attention to brain disorders. The negative attitudes, prejudice, and stigma that often surround many of these disorders have contributed to this neglect. Lacking proper diagnosis and treatment, millions of individual lives are lost to disability and death. Such conditions exact both personal and economic costs on families, communities, and nations. The report describes the causes and risk factors associated with brain disorders. It focuses on six representative brain disorders that are prevalent in developing countries: developmental disabilities, epilepsy, schizophrenia, bipolar disorder, depression, and stroke. The report makes detailed recommendations of ways to reduce the toll exacted by these six disorders. In broader strokes, the report also proposes six major strategies toward reducing the overall burden of brain disorders in the developing world.

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.

This report focuses on preventing potentially disabling conditions from developing into disabilities and on minimizing the effects of such conditions on a person's productivity and quality of life. It describes disability as a social and public health issue and not just a physical condition. The report begins with an executive summary, an introduction which discusses prevention issues in general and defines concepts, and a list of 27 recommendations. Subsequent chapters discuss: (1) the magnitude and dimensions of disability in the United States; (2) a conceptual approach to disability prevention and use of the tools and principles of epidemiology; (3) major areas of disability (developmental disabilities, injury-related disabilities, chronic diseases and aging, and secondary conditions associated with primary disabling conditions); (4) government and private sector programs concerned with disability prevention; and (5) conclusions and recommendations in the areas of a national program for the prevention of disability, surveillance, research, access to care and preventive services, and professional and public education. Appendixes contain a paper by Saad Z. Nagi titled "Disability Concepts Revisited: Implications for Prevention"; a statement of one committee member dissenting from this majority report of the Committee on a National Agenda for the Prevention of Disabilities; a response to the dissenting statement by committee members; and committee biographies. (Approximately 375 references) (JDD)

Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.