THE TAY-SACHS-DISEASE PREVENTION PROGRAM IN AUSTRALIA - SYDNEY PILOT-STUDY

Citation
L. Burnett et al., THE TAY-SACHS-DISEASE PREVENTION PROGRAM IN AUSTRALIA - SYDNEY PILOT-STUDY, Medical journal of Australia, 163(6), 1995, pp. 298-300
Citations number
12
Categorie Soggetti
Medicine, General & Internal
ISSN journal
0025729X
Volume
163
Issue
6
Year of publication
1995
Pages
298 - 300
Database
ISI
SICI code
0025-729X(1995)163:6<298:TTPPIA>2.0.ZU;2-6
Abstract
Objectives: To determine the frequency of heterozygous carriers of the Tay-Sachs disease gene in an asymptomatic Ashkenazi Jewish population and to compare the acceptability of different community testing strat egies. Design: Pilot survey of carrier rates and community attitudes. Setting: Sydney, February 1993 to November 1994. Participants: 147 sel f- or medically referred people of Ashkenazi Jewish origin were tested . Jewish religious, medical and community organisations and leaders we re consulted. Outcomes: Prevalence of HEXA mutations, client and commu nity preference for different testing and reporting strategies. Result s: Frequency of heterozygous carriers was 1 in 18, with a relative fre quency of the three major allelic variants similar to that in overseas studies. Most subjects were medically referred and preferred individu al reporting of their carrier status. Community representatives had se rious reservations about this strategy and few orthodox Jews participa ted in the study. An alternative strategy was developed for future tes ting. Conclusions: Frequency of heterozygous carriers of the Tay-Sachs disease gene was higher than found among Ashkenzai Jews in other coun tries, possibly because of ascertainment bias. A testing strategy with medical referral and individual reporting of carrier status may not b e appropriate for all the community at risk and a modified strategy is necessary.