JScreen Highlights September’s Tay-Sachs Awareness Month As Important Reminder for Genetic Testing

JScreen, a non-profit at home education and genetic carrier screening program, is highlighting September as Tay-Sachs Awareness Month, encouraging people to get tested for genetic diseases so they can make informed decisions about family planning. JScreen’s expanded screening panel tests for more than 200 diseases, a significant development from a generation ago.

One in 30 Ashkenazi Jews are carriers of Tay-Sachs, and one in 300 people in the general population are carriers. While there is no cure for Tay-Sachs, genetic screening can determine who is a carrier and whether a couple is at risk for having a child with this or other diseases. For the small percentage of couples that are at risk, there are many options to help them have healthy children.

Tay-Sachs disease is caused by absence of the enzyme hexosaminidase A (HexA), which causes a lipid to build up in cells and results in progressive neurological damage. According to the National Tay-Sachs and Allied Diseases Association (NTSAD), along with Ashkenazi Jews, French Canadians and Louisiana Cajuns are considered to be at high risk for carrying Tay-Sachs disease. When both parents are carriers, each child has a 25 percent chance of having the disease. The U.S. Senate voted unanimously in July of 2008 to name September National Tay-Sachs Awareness Month in an effort to bring additional attention to this deadly disease.

“A simple, at-home spit test can help families avoid the heartbreak of this – and other – devastating genetic diseases, and provide essential information to help prospective parents make decisions about the future of their family,” said Hillary Kener, JScreen’s director of National Outreach. “If a couple is found to be at high risk, JScreen provides invaluable genetic counseling to help them navigate their options for the future.”

Currently, 80 percent of babies with genetic diseases are born to parents with no known family history of that disease.

JScreen notes that its screening panel includes many diseases common in Jewish communities, and detects nearly two times as many carriers of genetic diseases in people of Ashkenazi Jewish descent compared with the general population. Three out of four people with Jewish background test positive as a carrier of at least one disease on JScreen’s panel.

JScreen is a non-profit community-based public health initiative headquartered at Emory University School of Medicine and is dedicated to preventing Jewish genetic diseases. The JScreen “spit kit” is easily ordered online, used at home, and then mailed in for DNA testing. If a person or couple’s risk is elevated, a certified genetic counselor will privately address their results, options and resources.

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