A number of ethnic groups have a higher risk for inheriting specific genetic conditions than the general population. In the Ashkenazi (Eastern European) Jewish population, there are approximately 18 well-known inherited conditions. The American College of Obstetricians and Gynecologists recommends that those of Ashkenazi descent and their partners be tested for genetic carrier status for four of these: Familial Dysautonomia (FD), Tay-Sachs, Canavan Disease, and Cystic Fibrosis. Carrier testing is also available for other Ashkenazi genetic disorders such as Fanconi Anemia, Gaucher Disease, Niemann-Pick, Mucolipidosis, and Bloom Syndrome. The test panel for these conditions is sometimes kiddingly referred to as “the kosher kit”.
If you or a loved one are of Ashkenazi descent and are planning on having children, a simple blood test will determine if you are a carrier for any of these “kosher kit” conditions. Be sure to ask if the lab tests for both of the two known FD mutations; one is more common than the other but not all labs test for both. Many insurance plans cover the cost of testing. In addition, local testing centers offer free or reduced rates. Go to the Norton & Elaine Sarnoff Center for Jewish Genetics for a list of nationwide genetic counseling and screening services to locate one near you.
For FD, you have an approximately 1/27 chance of carrying the FD mutation. If your partner also has the genetic mutation, your chance of having a baby with FD is 25% with each pregnancy. The good news is that FD is preventable. Even if both parents are carriers, your obstetrician can help you to avoid having a child with FD. Getting tested, and if both partners are carriers, working with your obstetrician, are the two best ways to prevent FD.
Testing is having a dramatic effect on the number of FD births according to one center that tracks FD statistics. Prior to 2001, the total number of reported FD births averaged 15 per year. Once testing became available for FD in 2001, however, the number of reported FD births steadily declined to 2 births in 2006 and 1 birth in 2007. This downward trend continues today.