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

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