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Tay-Sachs Awareness Month is an important reminder for genetic testing

ATLANTA, Georgia – In July 2008, the United States Senate voted unanimously to designate September as National Tay-Sachs Awareness Month, in an effort to bring attention to the deadly disease and to serve as a reminder of the importance of genetic testing.

In keeping with the month’s message, JScreen, a not-for-profit at home education and genetic carrier screening program and a community-based public health initiative headquartered at Emory University School of Medicine, is 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.

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. Since the 1970’s, the incidence of babies being born with Tay-Sachs has fallen by more than 90 percent among Jews because of genetic screening in the Jewish community.

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% chance of having the 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 JScreen’s  Director of National Outreach Hillary Kener. “If a couple is found to be at high risk, JScreen provides invaluable genetic counseling to help them navigate their options for the future.”

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.

Anyone age 18 or older can be screened through JScreen, says Kener. To reach key demographics, JScreen partners with different organizations, including Hillel International, which makes JScreen accessible to students by offering onsite screening events and highly reduced pricing for tests.

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. For more information, visit www.jscreen.org.

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