Jewish Genetic Diseases

Even before you think you are ready to become a parent, there are steps you can take to increase the chances of someday having a healthy baby.

Of course, no one wants to think of what might go wrong, but sometimes thinking about such things in advance means taking positive action... and then being able to move on to planning and hoping with greater confidence.

Jewish tradition celebrates life and honors the unique and precious ties between parents and children. That same tradition also encourages us to make every effort to prevent and diminish human suffering.  Genetic screening helps people to look forward to the joys of parenthood while increasing the chances of conceiving and giving birth to a healthy child. This concerns people with Jewish heritage because there are a number of genetic diseases with devastating impact on young babies which occur disproportionately within the Jewish community. The best time to get screened is before even beginning to try to become pregnant.

Genetic screening for diseases where being a carrier does not affect one’s health enables individuals to learn important information about the genes they may pass on to their offspring. A simple blood test can give you information that will empower the individual/couple to plan for future children to be born without diseases that are preventable. Even if one of the future biological parents is not Jewish he or she may also be a carrier. While there are some diseases that occur statistically more often among those of Jewish heritage they also do occur among those with a different ethnic heritage. Being a carrier does not mean that you cannot give birth to a healthy child; it simply means it is important to obtain genetic and medical counseling to increase your chances.

Educational efforts in the general community have increased awareness about some genetic diseases such as Tay-Sachs, but other genetic diseases for which testing is available are less well known. There are now 19 diseases for which screening is available. All of the diseases on the panel are severe and many are life threatening or fatal in childhood. Fortunately there are excellent centers which provide education and testing. It is important to raise this issue with your regular medical doctor, obstetrician-gynecologist and/or midwife since they may not discuss this at all and certainly not before you discuss readiness to start a family. Since prevention is most effective when you know your status and risks in advance there is good reason to discuss it during your next medical appointment.