Screening for Tay-Sachs—a fatal neurological disease affecting young children—has been widely embraced within the Jewish community for decades and is regarded as one of the true success stories in the field of genetic testing.
While Tay-Sachs is by far the best known of Jewish genetic disorders, it is far from the only one.
That’s why the Einstein Victor Center for the Prevention of Jewish Genetic Diseases strongly recommends that couples of Jewish heritage get screened to determine whether they are carriers for diseases with a high prevalence within the Jewish community. (Carriers are people who have one copy of a mutated gene that could be passed along to their children. People who are carriers do not have the actual disease.)
Among the specific Jewish genetic diseases the Victor Center screens for is Gaucher Disease, a metabolic enzyme deficiency with a carrier rate of 1 in 200 in the general population, but up to 1 in 10 to 15 among Ashkenazi Jews (Jews of Eastern European descent). Another example is Fanconi Anemia, an inherited bone marrow disorder with a carrier rate of 1 in 300 in the general population, but about 1 in 100 among Ashkenazi Jews.Read More