Genetics and Genetic Screening
1 in 5 Ashkenazi Jews is a carrier for at least one Jewish Genetic Disease.
While many Jewish families are encouraged by doctors and rabbis to be screened for Jewish Genetic Diseases, most couples receive genetic counseling and screening only when they become pregnant and typically they are not screened for the full panel of 19 diseases. Unfortunately, many physicians test only for the most common diseases, and the lesser-known diseases are often ignored.
Individuals who are carriers of any Jewish Genetic Disease exhibit no symptoms or health problems from their carrier status and they usually have no known family history of Jewish Genetic Disease. Therefore, carriers know of their carrier status only if they are screened or when they have a child born with a disease. These 19 diseases are “autosomal recessive” – meaning that both parents must be carriers of the same genetic disease to be at risk of having a child with a Jewish Genetic disease. If both parents are carriers of the same disease there is a 25% chance of having an affected child with each pregnancy.
The very best time to receive genetic counseling and genetic screening is prior to becoming pregnant. One simple blood test is all that is required to receive complete genetic screening for carrier status for all 19 Jewish Genetic Diseases. If both parents are found to be carriers of the same disease there are many reproductive choices and options to consider with your doctors, genetic counselors, and or spiritual advisors.
In Development: Jews of Sephardic and Mizrahi Heritage
The JGDC is currently in the process of revising our educational materials, including this website, to cover genetic diseases of concern to persons of Sephardic (Mediterranean) and Mizrahi (Persian and Middle Eastern) Jewish heritage. If you are of Sephardic or Mizrahi heritage and are pregnant or considering starting a family in the near future, you should seek advice regarding appropriate genetic screening from your doctor, a genetic counselor, or a hospital-based genetics program.
