Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools.

JJ Mitchell, A Capua, C Clow… - American journal of …, 1996 - ncbi.nlm.nih.gov
JJ Mitchell, A Capua, C Clow, CR Scriver
American journal of human genetics, 1996ncbi.nlm.nih.gov
Programs for education, screening, and counseling of senior-high-school students, in
populations at high risk for Tay-Sachs and beta-thalassemia diseases, have existed for> 20
years in Montreal. Four process and outcome variables are reported here:(i) voluntary
participation rates in the high-school cohort;(ii) uptake rates for the screening test;(iii) origin
of carrier couples seeking the prenatal diagnosis option in the programs; and (iv) change in
incidence of the two diseases. Between 1972 and 1992, we screened 14,844 Ashkenazi …
Abstract
Programs for education, screening, and counseling of senior-high-school students, in populations at high risk for Tay-Sachs and beta-thalassemia diseases, have existed for> 20 years in Montreal. Four process and outcome variables are reported here:(i) voluntary participation rates in the high-school cohort;(ii) uptake rates for the screening test;(iii) origin of carrier couples seeking the prenatal diagnosis option in the programs; and (iv) change in incidence of the two diseases. Between 1972 and 1992, we screened 14,844 Ashkenazi-Jewish students, identified 521 HexA-deficient carriers (frequency 1: 28), reached 89% of the demographic cohort in the educational component of the program, and achieved 67% voluntary participation in the subsequent screening phase. The corresponding data for the beta-thalassemia program are 25,274 students (mainly of Mediterranean origin) representing 67% of the cohort with 61% voluntary participation in the screening phase (693 carriers; frequency 1: 36). From demographic data, we deduce that virtually all the carriers identified in the high-school screening program remembered their status, had their partner tested if they did not already know they were a carrier couple, and took up the options for reproductive counseling/prenatal diagnosis. In Montreal, the current origin of all couples using prenatal diagnosis for Tay-Sachs and beta-thalassemia diseases is the corresponding genetic screening/testing program, whereas, at the beginning of the programs, it was always because there was a history of an affected person in the family. Incidence of the two diseases has fallen by 90%-95% over 20 years; the rare new cases are born (with two exceptions) outside the target communities or to nonscreened couples.
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