Testing for the Tay-Sachs gene in the Atlanta Jewish population

In May 1975, three mass screening clinics for the asymptomatic Tay-Sachs carrier were held in Atlanta, Georgia. Ninety percent of the 2,330 adults screened were of Ashkenazi Jewish ancestry. One hundred seventy-six people were identified as possible carriers, 145 returned for retesting, and 74 were diagnosed as carriers. The Tay-Sachs heterozygote frequency estimated from this tested population was 0.043 or 1 in 23. Retesting of all possible carriers and assessment of their first-degree relatives were emphasized as saids in diagnosis of the carrier state. Our results indicated that the hexosaminidase A values in the white celll lysates used for the retest procedure provided a more reliable diagnosis of the carrier state than did enzyme values obtained from screening sera alone. Test results from first-degree relatives in all cases supported the assigned genotype of probands.