Physicians in the era of genomic medicine will have the opportunityto move from intense, crisis-driven intervention to predictivemedicine. Over the next decade or two, it seems likely thatwe will screen entire populations or specific subgroups forgenetic information in order to target interventions to individualpatients that will improve their health and prevent disease.Until now, population screening involving genetics has focusedon the identification of persons with certain mendelian disordersbefore the appearance of symptoms and thus on the preventionof illness1 (e.g., screening of newborns for phenylketonuria),the testing of selected populations for carrier status, . . . [Full Text of this Article]
Principles of Population Screening
Newborn Screening
Carrier Screening of Adult Populations for Single-Gene Disorders
TaySachs Disease
Cystic Fibrosis
Population Screening for Genetic Susceptibility to Common Diseases
Hereditary Hemochromatosis
Factor V Leiden
Ethical, Legal, and Social Issues
Testing Children for Adult-Onset Disorders
Unanticipated Information
Misattribution of Paternity
Unexpected Associations among Diseases
Oversight and Policy Issues
Source Information
From the Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta (M.J.K.); and the Departments of Human Genetics and Pediatrics, the David Geffen School of Medicine at UCLA, and the UCLA Center for Society, the Individual and Genetics, Los Angeles (L.L.M., E.R.B.M.).
Address reprint requests to Dr. Edward McCabe at the Department of Pediatrics, David Geffen School of Medicine at UCLA, 10833 Le Conte Ave., Los Angeles, CA 90095-1752, or at emccabe@mednet.ucla.edu.
Related Letters:
Population Screening
Stabler S. P., Mudd S. H., Fielding R., Lam W., Leung G. M., Khoury M. J., McCabe L. L., McCabe E. R.B.
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N Engl J Med 2003;
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