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October 8, 1982

Genetic Services in the United States

JAMA. 1982;248(14):1733-1735. doi:10.1001/jama.1982.03330140043030

In fiscal years 1979 and 1980, the Genetic Diseases Service Branch of the Health Services Administration funded 34 state genetic service programs in the United States through monies from the National Genetic Diseases Act (PL 94-278) of 1976. During the two-year period, 131,818 at-risk individuals were provided with genetic counseling. Analyses of amniotic fluid were performed on 42,003 specimens, with 436 abnormal fetuses (1%) detected. Utilization ratios of amniocentesis for advanced maternal age ranged from a low of 5% to a high of 49%. Screening programs for inborn errors of metabolism reported testing 3,158,521 specimens. The numbers of affected children detected nationally were 195 with phenylketonuria (1:16,000), 536 with hypothyroidism (1:5,900), 25 with galactosemia (1:39,685), eight with maple syrup urine disease (1:86,984), and eight with homocystinuria (1:139,008).

(JAMA 1982;248:1733-1735)