Mitchell J J, Capua A, Clow C, Scriver C R
The DeBelle Laboratory for Biochemical Genetics and Department of Human Genetics, McGill University, Montreal, Canada.
Am J Hum Genet. 1996 Oct;59(4):793-8.
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.
在蒙特利尔，针对患泰-萨克斯病和β-地中海贫血病高风险人群的高中生教育、筛查及咨询项目已开展20多年。本文报告了四个过程和结果变量：（i）高中队列中的自愿参与率；（ii）筛查测试的接受率；（iii）在项目中寻求产前诊断选项的携带夫妇的来源；（iv）这两种疾病发病率的变化。1972年至1992年间，我们对14,844名德系犹太人学生进行了筛查，确定了521名己糖胺酶A缺乏携带者（频率为1:28），该项目教育部分覆盖了89%的目标人群，后续筛查阶段的自愿参与率达到67%。β-地中海贫血项目的相应数据为25,274名学生（主要为地中海血统），占队列的67%，筛查阶段的自愿参与率为61%（693名携带者；频率为1:36）。根据人口数据，我们推断高中筛查项目中确定的几乎所有携带者都记住了自己的状况，如果他们不知道自己是携带夫妇，会让伴侣接受检测，并选择生殖咨询/产前诊断选项。在蒙特利尔，目前所有使用产前诊断来检测泰-萨克斯病和β-地中海贫血病的夫妇都来自相应的基因筛查/检测项目，而在项目开始时，原因总是家庭中有患病者的病史。这两种疾病的发病率在20年内下降了90%-95%；罕见的新病例（有两个例外）出生在目标社区之外或未接受筛查的夫妇中。
