Community Magazine August 2017

JScreen recently announced the doubling of their testing panel from 100 to more than 200 disease genes that could affect a couple’s future children. Based in Emory University School of Medicine’s Department of Human Genetics, JScreen provides convenient, affordable access that enables singles and couples throughout the United States to plan for healthy families. Did you know that one in three people of Jewish descent are unknowingly carriers for at least one Jewish genetic disease? Within the spectrum of Jewish backgrounds, there are many common genetic diseases, including those most well-known amongst Ashkenazim, such as Tay-Sachs disease, spinal muscular atrophy, and Gaucher disease. Gaucher is the most common genetic disease in this community (1 in 12 Ashkenazi Jews are carriers), and may cause enlargement of the spleen and liver, low blood counts, and significant bone problems. Throughout the years, much attention has been given to the Ashkenazi diseases, but now, with the expanded panel, JScreen can identify even more disease genes from people of Sephardic and Mizrahi backgrounds. One such gene is hereditary inclusion body myopathy, which causes progressive weakening of the legs and arms and is highly common among Persian Jews. Another such gene is beta thalassemia which is so frequent that 1 in 5 Middle Eastern Jews are carriers. Familial Mediterranean fever is common in Middle Eastern Jews (1 in 16 are carriers) and causes episodic attacks of fever and painful inflammation of the abdomen, chest, and joints.  Different Sephardic groups have different genetic risks, making a comprehensive screening panel very important. Albert Cohen, who lives in New York, said: “JScreen was efficient and informative throughout the entire process and I’m thankful they were able to take my Syrian ancestry into account and informme of the types of results I may experience because of it. JScreen is an amazing resource that caters to every single ethnicity and is an opportunity that should not be missed.” Even in instances when someone has one Sephardic parent and one Ashkenazi parent, screening is recommended. It is recommended, too, when both partners have different backgrounds, as they are still at risk for having genes in common and passing along a genetic condition. Since the only way to know you are a carrier is to either have an affected child or get screened, all Jews, whether Syrian, Persian, or Eastern European, are advised to undergo screening before family planning. JScreen’s primary goal is to help people have healthy babies and to ensure the health of future generations. With JScreen, prospective parents have a unique opportunity to access screening at a low cost. Participants register online for screening kits and mail their saliva samples to the lab for testing. JScreen’s test is significantly more comprehensive than other tests that can be ordered online. And, in contrast to other screening programs, JScreen is a non-profit organization that functions under the direction of a physician who specializes in genetics. The cost includes geneticcounselingviaphoneorsecurevideo conference. Through genetic counseling, couples found to be at increased risk gain an understanding of their risks and learn of available options through which they may have healthy children. Moshe Shalom of Sephardic background says: “While some people get stuck in the past or trapped in the present, JScreen makes it possible to look to the future. Not only was the process made simple and easy by the JScreen staff, they also made sure to personalize my experience by giving me a full understanding of how my results correlated with my ancestry and family background. I now feel more prepared for the future.” With our focus on pre-conception testing, thousands of couples have gone on to have healthy babies, thanks to JScreen’s technology and services. Everyone should take it upon themselves to become an ambassador of genetic screening by telling a friend or family member. In this way, it has a better chance of becoming top-of-mind for the Jewish community. To learn more about JScreen or to request a screening kit, visit JScreen.org. HILLARY KENER Expanded Screening Across Sephardic, Ashkenazi, and Mizrahi Communities Helps Ensure the Health of Future Generations of Jews 44 COMMUNITY MAGAZINE