A private view of heterozygosity: Eight‐year follow‐up study on carriers of the Tay‐Sachs gene detected by high school screening in montreal

Abstract

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.

Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

“…The most adverse findings were relatively high levels of worry about the test among those at risk and some indication that testing might influence children's perspectives on future partner selection and parental roles. 30,31,37,38,42 Beneficial influences also were observed, including high reported satisfaction among tested children and positive emotional responses among children who tested negative. 30,31,34,36,37,39,42 Implications for future research Although this review suggests that a majority of publications do not indicate a substantial impact of genetic testing on children's psychosocial wellbeing, most position statements recommend against the testing of children.…”

“…30,31,37,38,42 Beneficial influences also were observed, including high reported satisfaction among tested children and positive emotional responses among children who tested negative. 30,31,34,36,37,39,42 Implications for future research Although this review suggests that a majority of publications do not indicate a substantial impact of genetic testing on children's psychosocial wellbeing, most position statements recommend against the testing of children. 1,2 This difference is likely because of the serious limitations of the current evidence and a tendency of health care organizations to take a precautionary stance with respect to potential harms, 49 particularly when children are involved.…”

“…Indeed, between 20% and 70% of carriers expressed some level of worry, which was considerably higher than for noncarriers (2-10%). 30,33,37,38 However, the importance of this finding is unclear because the questionnaires used by these studies were not sensitive enough to distinguish between worry experienced as a modest concern and clinically significant levels of worry that interfered with wellbeing (e.g., "If you were a carrier or your test result was uncertain, are you worried about it?" Answers were: yes, slightly, uncertain, indifferent, or no.…”

“…Two studies that returned carrier test results for Tay-Sachs disease 30,37 and fragile X syndrome 36 found that noncarriers had a positive emotional response on learning their result and that these responses were sustained over time. Also, in the context of fragile X carrier testing, some evidence from interviews suggested that girls who were carriers had better emotional coping after testing than untested girls who knew they were at risk.…”

Falling prevalence of beta-thalassaemia and eradication of malaria in the Maldives

“…Most existing screening programmes for haemoglobin disorders offer carrier testing premaritally or during pregnancy and include the option of prenatal diagnosis (Alwan and Modell 2003). However, three considerations led SHE to focus on early information and voluntary testing for young people, as practised in Montreal (Zeesman et al 1984). (1) Young people need to learn about their carrier status early enough to consider all available options, including marriage and undertaking a pregnancy.…”