An alliance of individuals and organizations working together to prevent Jewish Genetic Diseases through education, awareness and screening

Ashkenazi Jewish Genetic Diseases: 19 Disease Panel

Ashkenazi Jewish Genetic Diseases: 38 Disease Panel

Sephardic/Mizrahi Jewish Genetic Diseases

Jewish Genetic Diseases

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Jewish Genetics-Why Carrier Screening is Important: The Jewish community is at increased risk for many genetic diseases that occur more frequently in this population. Children with these diseases are often born to families that do not have other affected relatives, so the diagnosis comes as a surprise to the parents.  The good news is that many of these conditions are preventable. Individuals who have carrier screening and learn they are carriers can use that information to plan ahead for the health of their future families. When an individual is identified as a carrier, they should let their partner know, as two carriers of the same recessive genetic disease have a 25% (or 1 in 4) chance that each of their children will be affected with this disease. While most Jewish genetic diseases are inherited in this way, there are other conditions are inherited differently. In either case, those at high risk to have children with these conditions are counseled about options for building healthy families.

There are different genetic concerns for people of Ashkenazi (Eastern European), Sephardi, and Mizrahi backgrounds. However, while some diseases are more frequently found in specific communities, this does not mean these diseases are exclusive to individuals from those places. Furthermore, we have seen cases of Jewish individuals who carry diseases that are pan-ethnic, or common among all ethnicities. Therefore, it has become common for genetics professionals to order expanded carrier screening that is not ethnicity-specific and includes broader testing for individuals of all ethnic backgrounds, Regardless of specific Jewish background, all Jewish and interfaith couples should have preconception carrier screening.

We are providing information about diseases that are commonly found in the Jewish (Ashkenazi, Sephardi, and Mizrahi) population and would be important to be included in a testing panel. Please keep in mind that while this is a very comprehensive list, there are some diseases listed here that are not included on some testing panels and there are others that are not listed here, but might be on some testing panels. In all cases, Tay-Sachs disease screening, enzyme analysis using blood in addition to DNA analysis is required.