Thanks to advances in scientific research and technology, many things have changed in the world of Jewish genetic testing since carrier screening for Tay-Sachs disease first became available in the 1970’s. Fast forward to 2020, testing is no longer only recommended for Ashkenazim. Genetic disease testing panels have expanded from just Tay-Sachs to include many more diseases common in Ashkenazi Jews, as well as those common in people with Sephardi and Mizrahi ancestry, and others that are common in the general population. These advances make screening relevant for Jews of all backgrounds, converts who do not have Jewish background, and people who do not know their ancestry.
Results from genetic carrier testing indicate whether a person is a healthy carrier for a disease, which means they don’t have it, but are at risk to have an affected child if their partner is also a carrier. Being a carrier is very normal, as everyone is a carrier of something, so there should not be a stigma regarding carrier status.
To ensure the Jewish community has access to comprehensive and reliable testing, a national non-profit program called JScreen is making this a reality. JScreen uses state-of-the-art genetic sequencing technology to test on saliva for over 200 different genetic conditions with an easy, affordable (only $149!) and convenient at-home test. JScreen is recommended for anyone thinking of starting or expanding their family. Inquiring about updating testing between pregnancies is advised, as more diseases may be added to the testing panel in the interim.
Once a person’s JScreen results are ready, licensed genetic counselors confidentially deliver the results by phone, providing the opportunity for the person (or couple) to have their questions answered. It’s important to point out that the majority of couples receive reassuring results. For those who are at increased risk, there are halachically permissible options, such as in-vitro fertilization (IVF) with pre-implantation genetic testing (PGT), to help them have a baby without the genetic disease they both carry.
To learn more about JScreen or to request a screening kit visit www.JScreen.org.