Jewish genetic disorders refer to genetic diseases that are common in people who are of the Ashkenazi Jewish descent. These genetic disorders are also seen in Sephardi and Mizrahi Jews, but are more common in Ashkenazi Jews, who are usually from Central and Eastern Europe. While there are no set panels for these genetic disorders, a number of laboratories screen people of Ashkenazi Jewish descent for many different disorders. Most laboratories follow the norms of the American College of Medical Genetics, which recommends screening people for nine genetic disorders.
If a person has a Jewish heritage, the person could be a carrier of the genetic disorders. Such a person may not necessarily have the disease. However, if this individual marries another carrier who has the genes for the same diseases, then the chances of having a child with the genetic disorder are 1 in 4. For instance, if a person is a carrier for Bloom Syndrome and marries a person who also carries the genes for the syndrome, the chances of having a child being born with Bloom Syndrome are 1 in 4.
If a person has even one grandparent of German or Eastern European Ashkenazi Jewish heritage, he or she should consider getting screened for genetic diseases. These genetic disorders are serious; they can be life-threatening, fatal or life-altering to the child. If both partners test positive, they can go for genetic counselling, as there are ways to build a healthy family without being stressed and worried. The person should be aware of their carrier status before getting pregnant. There are about 19 genetic disorders that tend to affect people of Ashkenazi Jewish descent and if the estimates are to be believed, 1 in 3 is a carrier of at least one of the genetic disorders.
There is no single screening panel for people of Sephardic and Mizrahi Jewish descent. However, such people can speak to a genetic counselor about their family heritage and get screened for genetic disorders. There are about 16 genetic disorders that tend to affect people of Sephardic and Mizrahi Jewish heritage. The screening usually is done based on geographic origins.
According to scientists, the founder effect and genetic drift are the two main reasons why certain genetic disorders are common amongst people of Ashkenazi Jewish heritage. The founder effect refers to the possibility of the genes being present in the ancestors of those who migrated to Eastern Europe during 70 CE. Genetic drift refers to chance. Typically, most Jews do not marry out of their community or faith and, hence, these genes did not pass on to other communities. However, at the same time, the frequency of the genes manifesting did not reduce, as no genes from outside were introduced into the Ashkenazi Jewish community.
While there is no official list of Jewish genetic disorders, most disorders are either Mendelian or are a combination of specific genes.
The genetic disorders commonly seen in Ashkenazi, Sephardic and Mizrahi Jews include the following: