Two of the great philanthropic endeavors in the Jewish community over the last two decades are PJ Library and Birthright Israel. For many Jewish children (and their parents) and young adults, when they reach a certain age, it’s understood they’ll be a part of these programs and receive the benefits. It’s almost “automatic.” Studies show how these initiatives have transformed Jewish life.
We want to introduce another “automatic” into Jewish life. It’s not as entertaining, but certainly is important and could be life-altering: testing for genetic diseases, specifically those that are especially common among the Jewish population, to help plan for healthy families.
While diseases like Tay-Sachs, Gaucher, and spinal muscular atrophy, are well-known, there are hundreds of other genetic diseases. One in three people of Jewish background unknowingly is a carrier for at least one of over 100 known Jewish genetic diseases.
If, as young adults came of age and got married, screening became a standard item to “check off the list,” these young adults—these new couples—would be equipped to make the most well-informed decisions for themselves and their future families.
The technology is there, with easy access. JScreen, a national non-profit public health initiative based out of Emory University School of Medicine, provides access to screening for more than 200 diseases, a major increase from a generation ago when screening was only available for Tay-Sachs disease. And screening is done through an easy to use “spit kit” that people can order online, use at home, and mail in for testing.
We recognize the trepidation that can surround this process. Once people get beyond the unknown, the “known” can be scary. This is especially true if tests come back with positive results. That’s why, if a person or couple’s risk is elevated, JScreen provides results via phone or secure video-conference by certified genetic counselors. These experts privately address the results, resources, and options moving forward.
And there are many ways for at-risk couples to still have healthy children through a variety of options such as in vitro fertilization (IVF) with pre-implantation genetic diagnosis, prenatal diagnosis, sperm or egg donation from a non-carrier, and adoption.
As just one example, here’s a testimonial from a person who was screened:
Last year, my husband and I found out we are both carriers of Gaucher disease. We were shocked and scared of what the future would hold for our family; the genetic counselor recommended by our physician explained that there is a 25% chance in each pregnancy that our child would have Gaucher disease. By being aware of this reality, we are able to go through a complex IVF process that significantly decreases the odds of having a child with Gaucher disease. We are incredibly fortunate to have access to sophisticated screening and science that makes this possible for us and for others in similar positions.
Information is power; and it leads to healthier communities. Since the 1970’s, for example, the incidence of babies being born with Tay-Sachs disease has fallen by more than 90 percent among Jews because of scientific advances and increased screening in the Jewish community.
Let’s build on this and work to have every young Jewish adult check off the box of genetic testing. Let’s make it a standard part of coming of age, meeting a partner, and choosing to have children. Thanks to the generous support of philanthropists, this can all be done affordably, with almost no barriers. We just sent cards and wishes to many friends and family for a healthy new year. That can start with genetic testing.
Karen Grinzaid is Executive Director of JScreen. Headquartered in Atlanta at Emory University School of Medicine’s Department of Human Genetics, the JScreen initiative is a collaboration among clinical geneticists, socially minded businesses and nonprofits to provide everyday people with a ready access point to cutting-edge genetic testing technology, patient education and genetic counseling services.