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

    Article - En anglais

    Programs for education, screening, and counseling of senior-high-school students, in populations at high risk for Tay-Sachs and bêta-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 bêta-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. (...)

    Mots-clés Pascal : Sphingolipidose héréditaire Tay Sachs, Thalassémie bêta, Dépistage, Programme, Québec, Canada, Amérique du Nord, Amérique, Efficacité, Incidence, Homme, Métabolisme pathologie, Lipoïdose, Système nerveux pathologie, Encéphale pathologie, Maladie héréditaire, Hémopathie, Anémie hémolytique, Hémoglobinopathie

    Mots-clés Pascal anglais : Tay Sachs disease, bêta-Thalassemia, Medical screening, Program, Quebec, Canada, North America, America, Efficiency, Incidence, Human, Metabolic diseases, Lipoidosis, Nervous system diseases, Cerebral disorder, Genetic disease, Hemopathy, Hemolytic anemia, Hemoglobinopathy

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 96-0442522

    Code Inist : 002B30A03B. Création : 10/04/1997.