Jewish genetic screening has evolved in the past few years in dramatic and exciting ways. Our ability to understand the human genome and improvements in DNA sequencing technology has changed the world in ways that we must all appreciate and take advantage of. It is simply no longer enough to say that the Jewish community is comfortable accepting a less thorough pre-marital screening simply because of old status quo. In medicine, there is no such thing as status quo. Every area of medicine has changed in past years and we have all benefited from those advances. The critical question becomes, why should we settle for less when it comes to our need for proper pre-marital screening and making good decisions with that information? Imagine for a moment that you require an imaging study of your lungs or abdomen to look for a growth or a lesion, G-d forbid. Would you ever consider the option of doing a partial scan of one portion of one lobe on one lung versus imaging of both lungs completely? Of course you wouldn’t. The same is true of Jewish genetic screening. Jewish families now have a choice for a more comprehensive and different type of program. Relying on a program that offers only the most basic screening is just no longer acceptable.  Not willing to accept the status quo is how and why JPatible was recently established. The Jewish world now has a better and more thorough option for those who choose. The JPatible saliva test covers 213 carrier states, inclusive of Ashkenazic, Sephardic and Mizrahi ancestry. The previous program covers dramatically fewer carrier states offering different and less thorough options. These are two very different approaches to genetic testing, with JPatible being a very closely medically supervised program, utilizing current standards of Jewish genetic testing. The test is saliva based and relies on state of the art DNA sequencing technology performed by Counsyl medical genetics laboratory. No blood draw is necessary, a saliva test kit is sent directly to your home.

Whether a Jew is of Ashkenazic, Sephardic, Mizrahi or very commonly combined Jewish ancestry, they have a higher rate of being carriers for certain genetic disorders. Whether that carrier state is for a disease where one in 15 Jews carry the gene or a disease where one in 120 carry the gene, if two partners carry the same gene then there is a 25% chance that each pregnancy will result in an affected baby. The most important fact to understand is that being a carrier for a disorder does not mean that you have the disease. It simply means that if you and your spouse are common carriers for the same gene, your offspring can be at significant risk. This is not a theoretical concern either. Unfortunately, there are children born every year into families that were not previously aware that the couple was a common carrier. Finding out by having an affected baby is absolutely not necessary and can affect that family for a lifetime. While we as a people celebrate all children and view each one as a gift no matter what their needs, it does not mean that we should not do everything in our power to prevent diseases before they occur. This is a basic tenet of Judaism and humanity.

I assisted in bringing JPatible to fruition having this in mind. As a physician who has had the task of caring for many of these affected children and young adults, I recognize first hand that we cannot be stuck in any outdated screening model where the Jewish community in under-screened and under-informed. At the very least, the Jewish community should have the option to test for a very comprehensive panel versus the status quo where one is tested for a very limited number of carrier states and get their individual results. I know of no other medical responsibility where families are not given options to make decisions for themselves and do not have the ability to choose the best care for their children. Would any parent agree to have others choose their families future especially when it could involve many years of illness, suffering and long- term care of a sick child? Of course not.

The JPatible program has been established with strict Daas Torah (rabbinical supervision) in both the Ashkenazic and Sephardic communities. I believe that there must be input and direction from Rabbonim to ensure that all halachic issues are addressed and followed. JPatible provides a balance of strict medical professionalism along with reliance of stringent Das Torah. The JPatible program provides each individual with their own results as reported to them by a licensed genetic counselor. Reports are never shared with anybody other than the participant. Matching and comparing of results for shidduch purposes is done confidentiality without revealing each participant’s results. JPatible encourages, but does not require, all participants to share the comprehensive results with their personal physician and health care providers. Results can and should be passed on to their medical providers for future use and reference especially obstetricians. The JPatible program simply offers the best of all worlds: a comprehensive screening panel, complete medical supervision and confidentiality, and compatibility matching to ensure safe family planning. 

 Learn more and register at JPatible.com.

Stuart H. Ditchek, MD, FAAP