Zeesman S, Clow C L, Cartier L, Scriver C R
Am J Med Genet. 1984 Aug;18(4):769-78. doi: 10.1002/ajmg.1320180424.
We surveyed 264 persons (132 carriers, 132 matched noncarriers) screened for Tay-Sachs heterozygosity during 1974-76 in a program directed at senior high school students in Montreal. Among 198 who apparently received the questionnaire in 1982, the response rate was 42% (38 carriers, 45 noncarriers; age range 21-26 yr). Respondents and nonrespondents had no apparent demographic differences. Of eight unable to remember their genotype only one was a carrier (these persons were excluded from the study). The subjects were: single (75%), married (20%), engaged (3%), divorced (1%); 32% of carriers were engaged or married vs 16% of noncarriers. (There were no carrier couples in our sample, but one such couple, who married after being screened in the high school program, requested amniocentesis in 1981.) Only three of the 12 spouses or fiancé(s) of carriers have not been tested (vs 3 of 6 noncarrier partners). Only 19% of carriers now attach any "worry" to heterozygosity (vs 46% at the earlier time of test disclosure, P = 0.001); carriers with spouses or fiancé(e)s are less "worried" than unattached carriers. Only 3% of carriers claim they would change marriage plans if their fiancé(e) was also a carrier. Carriers and noncarriers uniformly approve (96%) genetic screening for themselves and for other mutant genotypes; 92% of carriers and 95% of noncarriers approve being screened in high school. These findings indicate that Canadians screened in high school: 1) have largely positive attitudes toward genetic screening long after the experience, and 2) are making appropriate use of the test result.
1974年至1976年间，我们在针对蒙特利尔高中生的一个项目中，对264人（132名携带者和132名相匹配的非携带者）进行了泰-萨克斯杂合性筛查。在1982年显然收到问卷的198人中，回复率为42%（38名携带者，45名非携带者；年龄范围21 - 26岁）。回复者和未回复者在人口统计学上没有明显差异。在8个记不起自己基因型的人中，只有1名是携带者（这些人被排除在研究之外）。受试者情况如下：单身（75%），已婚（20%），订婚（3%），离婚（1%）；32%的携带者订婚或已婚，而非携带者为16%。（我们的样本中没有携带者夫妇，但有一对这样的夫妇，他们在高中项目筛查后结婚，并于1981年要求进行羊膜穿刺术。）携带者的12名配偶或未婚夫（妻）中只有3人未接受检测（非携带者伴侣中有6人，3人未接受检测）。现在只有19%的携带者对杂合性有任何“担忧”（而在更早披露检测结果时这一比例为46%，P = 0.001）；有配偶或未婚夫（妻）的携带者比单身携带者“担忧”程度更低。只有3%的携带者声称如果他们的未婚夫（妻）也是携带者，他们会改变结婚计划。携带者和非携带者一致赞成（96%）对自己和其他突变基因型进行基因筛查；携带者中有92%、非携带者中有95%赞成在高中时进行筛查。这些发现表明，在高中接受筛查的加拿大人：1）在经历很长时间后，对基因筛查大多持积极态度；2）正在合理利用检测结果。
