The United States and several nations in the developed world have initiated efforts to map and sequence the human genome. The knowledge derived from these efforts will have a profound influence on the practice of medicine. This article reviews the technical developments in the field of human genetics and reviews the ethical issues relevant to the pediatrician in the application of this technology in prenatal screening, presymptomatic screening, carrier screening, and gene therapy. The complexity of these issues warrants caution in the clinical application of these tools and will require a better understanding of human genetics by health professionals and the public.
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