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.