Genetic Testing for Familial Dysautonomia is Available!

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 many well-known inherited conditions such as Familial Dysautonomia.

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.

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.

If you or a loved one are of Ashkenazi descent and are planning on having children, genetic testing is available. 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. Outside of the Jewish population, there are some very very rare mutations that turn up when a Jewish carrier has a child with a non-Jewish partner. Check with your insurance plan to see if testing is covered. In addition, local testing centers may offer free or reduced rates.

The world of genetic testing is rapidly changing. Listed below are a few of the many trusted organizations available to answer all of your genetic testing questions.

Dor Yeshorim offers pre-marital screening utilizing a unique system that ensures confidentiality and complete comfort and acceptance across the Jewish spectrum. Blood samples are drawn and each participant receives an identification number. When an individual is considering a partner in marriage, both parties exchange ID numbers to request a compatibility check.

 

JScreen is a not-for-profit at-home education and carrier screening program for Jewish genetic diseases. The goal of the program is to give individuals and families easy access to information and to allow testing to be done conveniently from home. Testing is performed by a certified laboratory and results are reviewed and reported to participants by genetic counselors.

The Norton & Elaine Sarnoff Center for Jewish Genetics provides educational resources for genetic disorders more common among individuals of Jewish descent. They work closely with the community to offer low-to-no cost genetic counseling and carrier screening. They offer resources worldwide, continuing its service focus in the Chicago Jewish community.

The Jewish Genetic Disease Consortium (JGDC) increases awareness about Jewish genetic diseases and encourages timely and appropriate carrier screening for all persons who have any Jewish ancestry, as well as couples of mixed heritage. The JGDC is an alliance of non-profit organizations sharing the common goal of combating genetic diseases.