Jewish genetic screening becomes more accessible through at-home testing kits

Published on January 7th, 2015 | by LedgerOnline

By Diana Burmistrovich/JNS.org

One in four Jews is a carrier of one or more of the 19 known preventable Jewish genetic diseases, according to the Center for Jewish Genetics. Although Sephardic Jews and non-Jews can carry these diseases, they appear twice as often for Ashkenazi Jews as they do for the rest of the population. When both spouses are carriers for a particular genetic disease, the couple has a 25 percent chance of passing the disease on to their children.

Launched in September through the Emory University School of Medicines Department of Human Genetics, the goal of the JScreen not-for-profit health initiative is to make those statistics appear less daunting.

A carrier-screening program for Jewish genetic diseases, JScreen aims to give families with Jewish ancestry easy access to information and to provide convenient testing. Employing an easy-to-use kit, JScreen allows individuals to test for the 19 known preventable Jewish genetic diseaseswhich among others include Tay-Sachs, Canavan, and Gaucherin their own homes.

While testing for genetic disorders is nothing new, JScreens accessibility is. The kit is easily acquired through the initiatives website atwww.JScreen.org, and the test allows a saliva sample to be sentdirectly for analysis. Theprogram works closely with the individual,obtaining doctors orders when needed andproviding updates on the status of the sample until results are sent out approximately four weeks later.

Touting the initiative as community-oriented, JScreens website provides resources that aim to make couples feel comfortable in proceeding with their family-planning efforts. This includes explaining the reasons for getting tested, as well as statistics.

JScreen hopes to act as a resource for the community to do genetic testing and make a big impact in growing healthy families, JScreen spokesperson Patricia Page told JNS.org.

The program grew out of the work of Randy and Caroline Gold, who were surprised to find out that their daughter, Eden, had the genetic disease Mucolipidosis Type IV (ML4), despite their having both undergone genetic testing before starting a family.

When they learned that their genetic test had screened for less than half the conditions common in people of Jewish descent, the Golds made it their mission to spread the word about expanded Jewish genetic disease screening. They launched the Atlanta Jewish Gene Screen, an organization thatpartneredwith the Victor Center for Prevention of Jewish Genetic Diseases at Einstein Medical Center in Philadelphia, and Emory Geneticsfrom 2010 to 2012.

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Jewish genetic screening becomes more accessible through at-home testing kits