Jewish Genetic Diseases 101
Answers to your questions
1. What percent of Ashkenazi Jews are carriers of a Jewish genetic disease?
2. How many Jewish genetic diseases are there that affect Ashkenazi Jews?
Presently there are 19 recessive diseases that affect Ashkenazi Jews for which screening is recommended. There are a small number of additional diseases that do not meet the same criteria as those included in the current panel of 19 recessive diseases. New diseases that meet criteria of the current 19 are added to the panel as tests become available.
3. What are the 19 diseases for which screening is recommended?
Bloom syndrome, Canavan disease, cystic fibrosis, familial Dysautonomia, Fanconi Anemia type C, Gaucher disease,Glycogen Storage disease type 1A, Maple Syrup Urine disease, Mucolipidosis Type IV, Niemann Pick disease, Tay-Sachs disease, Dihydrolipoamide Dehydrogenase deficiency, Familial Hyperinsulinism, Nemaline Myopathy, Joubert syndrome, Usher syndrome type 1F, Usher syndrome type III, Spinal Muscular Atrophy, and Walker Warburg syndrome.
4. How often do people need to be tested for Ashkenazi Jewish genetic disease?
After your initial screening, it is recommended that you check back with your doctor before every pregnancy, to see whether screening is available for any new diseases that you were not previously screened for.
5. Do interfaith couples need to be screened?
Yes. All of these diseases can occur in the non-Ashkenazi Jewish population, but at varying frequencies. Therefore, the Jewish partner should be screened first, then, based on his/her results, the non-Jewish partner can get screened, if necessary. It is important to realize that a non-Jewish person may require different testing than a Jewish person. Genetic counseling is recommended to ensure that the most accurate testing is done for the non-Jewish partner, if the Jewish person is a carrier.
6. In cases of artificial insemination and other fertility treatments, is screening necessary?
Yes. Even if an egg and/or sperm donor is used, as long as at least one of the biological parents is Jewish, testing is needed. Again, this is because all of these diseases can occur in the non-Ashkenazi Jewish population. Additionally, if the egg/sperm donor has one Jewish grandparent, they meet the criteria for screening for Jewish genetic diseases.
7. Does a male partner and/or donor need to be tested?
Yes. Anyone planning a pregnancy who is Jewish or has one Jewish grandparent should be screened for Jewish genetic diseases.
For genetic counseling and screening for the current panel of 19 diseases, contact your doctor or the Victor Centers at 877-401-1093 or www.victorcenters.org