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Review Article
Genomic Medicine
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Volume 348:50-58 January 2, 2003 Number 1
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Population Screening in the Age of Genomic Medicine
Muin J. Khoury, M.D., Ph.D., Linda L. McCabe, Ph.D., and Edward R.B. McCabe, M.D., Ph.D.

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Physicians in the era of genomic medicine will have the opportunity to move from intense, crisis-driven intervention to predictive medicine. Over the next decade or two, it seems likely that we will screen entire populations or specific subgroups for genetic information in order to target interventions to individual patients that will improve their health and prevent disease. Until now, population screening involving genetics has focused on the identification of persons with certain mendelian disorders before the appearance of symptoms and thus on the prevention of 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

Tay–Sachs 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.
Extract | Full Text | PDF  
N Engl J Med 2003; 348:1604-1605, Apr 17, 2003. Correspondence

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