Why get tested?
What are Jewish genetic diseases?
Jewish genetic diseases are a group of disorders that occur with high frequency in the Jewish population. Ashkenazic Jews, those whose ancestors were from Central and Eastern Europe (i.e. Poland, Russia, Germany, Lithuania, etc.), are at higher risk than the general population for several genetic diseases.
Jewish communities in Europe were small and isolated, and members tended to marry within those communities. Since it is estimated that all individuals carry a small number of gene changes (called mutations), the ones present in those small groups of European Jews became more prevalent in future generations.
The term “carrier” means that you have an altered copy of a gene in your genetic makeup. Being a carrier for a Jewish genetic disease has absolutely no impact on your health. Everyone is a carrier for something.
Two carrier parents have a 25% chance of having a child with the disease.
How do I know if I’m a carrier?
There are only two ways to know if you are a carrier–get screened or have an affected child. Screening is done with a simple blood or saliva test which examines a person’s genes for changes or mutations in specific genes. You can arrange screening through a genetic counselor, or your physician. You are not automatically screened for any of these disorders; you must request to be screened for the complete panel of Jewish genetic diseases.
Please note that genetic testing is changing all the time. Before each pregnancy, even if you have previously been screened for Jewish genetic diseases, check that you have been screened for the most up-to-date list of Jewish genetic diseases.
What if I’m a carrier?
If you are a carrier for a genetic disease, it’s important that your partner also gets screened. Carriers and carrier couples have many options available to them for having healthy children, but it’s important to learn this information now–before starting a family. Arrange to meet with a genetic counselor to help assess your risks and to discuss options for having a healthy family.
To find a genetic counselor near you, visit the National Society of Genetic Counselors.