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JScreen highlights September's Tay-Sachs awareness month as reminder for genetic testing

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Jason Edelstein

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.

JScreen, a not-for-profit at home education and genetic carrier screening program, highlights September’s 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.

“If a couple knows their carrier status prior to pregnancy, they have ample time to seek genetic counseling, gain information about the disease(s) that they carry, and make family planning decisions that will best suit them,” said Shari Ungerleider, whose son, Evan, tragically died of Tay-Sachs disease.

Within months of his seemingly healthy birth in 1994, Shari and Jeff Ungerleider became concerned as they realized that Evan was not developing at the same pace as other children his age. By the time he was 10 months old, it was clear there was a significant problem. Evan’s condition quickly progressed, and he was soon unable to move on his own, suffered multiple seizures daily, and had respiratory difficulty which required the Ungerleiders to provide chest physical therapy and to suction him regularly. He eventually became blind and deaf. They had a feeding tube surgically inserted so that Evan would be able to stay properly nourished and medicated. He had to undergo several hours a week of physical and occupational therapy so that his muscles would not atrophy. Evan lost his battle with Tay-Sachs when he was almost 4 ½ years old.

Additional Background and Information on Tay-Sachs: 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. 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% of having the disease. The Senate voted unanimously in July of 2008 to name September National Tay-Sach’s 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 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.”

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. “It is also important to remember that anyone age 18 or older can be screened through JScreen – whether they’re planning a family tomorrow or years from now,” continued Kener.

“That is why JScreen partners with different organizations to reach key demographics. Our partnership with Hillel International, for example, helps more college students understand the importance of JScreen, and the important information this test provides. With college students around the world returning to school after summer break, Tay-Sachs awareness month brings another opportunity to educate future parents about this easy test that provides deeply informative results.”

Hillel makes JScreen accessible to students in a variety of ways, including through JScreen Shabbat programs and onsite screening events across the country, and offering highly reduced pricing for students and Hillel staff. The partnership also includes screenings at Hillel’s annual Global Assembly and at the Hillel Institute conferences.

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. Cutting-edge technology enables geneticists to look closely at people’s genetic makeup to identify their risk for more than 200 different diseases, including those that are predominant in the Jewish community. Traditionally, Tay Sachs carrier screening required blood enzyme testing, but today’s sequencing methodology allows highly accurate testing to be performed on saliva.

JScreen is a non-profit community-based public health initiative dedicated to preventing Jewish genetic diseases. Headquartered in Atlanta at Emory University School of Medicine, 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. JScreen believes the combination of education, access to premier gene screening technologies and personalized, confidential support are the keys to preventing these devastating diseases.

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