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

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 strategies. Design: Pilot survey of carrier rates and community attitudes. Setting: Sydney, February 1993 to November 1994. Participants: 147 self- or medically referred people of Ashkenazi Jewish origin were tested. Jewish religious, medical and community organisations and leaders were consulted. Outcomes: Prevalence of HEXA mutations, client and community preference for different testing and reporting strategies. Results: Frequency of heterozygous carriers was 1 in 18, with a relative frequency of the three major allelic variants similar to that in overseas studies. Most subjects were medically referred and preferred individual reporting of their carrier status. Community representatives had serious reservations about this strategy and few orthodox Jews participated in the study. An alternative strategy was developed for future testing. Conclusions: Frequency of heterozygous carriers of the Tay-Sachs disease gene was higher than found among Ashkenzai Jews in other countries, possibly because of ascertainment bias. A testing strategy with medical referral and individual reporting of carrier status may not be appropriate for all the community at risk and a modified strategy is necessary.