Atlanta, GA – JScreen (jscreen.org), a national not-for-profit education and genetic carrier screening program, today highlighted September’s Tay-Sachs Awareness Month, encouraging people to have carrier testing for genetic diseases so they can make informed decisions about family planning. JScreen’s expanded screening panel tests for Tay-Sachs and more than 200 other diseases through at-home DNA testing on saliva.
While anyone can have a child with Tay-Sachs disease, Ashkenazi Jews are at significantly higher risk. Founded in 1957 by parents, National Tay-Sachs & Allied Diseases Association (NTSAD) was a pioneer in the prevention of Tay-Sachs in the Ashkenazi Jewish community through carrier screening programs and education. “While the utilization of Tay-Sachs carrier screening has been impactful and regarded by many as a model public health genetic screening initiative, affected babies are still being born to Jewish, interfaith and non-Jewish couples who are not offered testing,” said Staci Kallish, DO, NTSAD Board President. “Tay-Sachs Awareness Month brings an important opportunity for the public to be educated about the importance of screening.”
Historically, Tay-Sachs carrier testing was done through enzyme testing on blood samples. A new journal article recently published in Molecular Genetics and Genomic Medicine shows that Next Generation (NextGen) DNA sequencing of the Tay-Sachs gene has a higher carrier detection rate than blood enzyme testing in both Jewish and non-Jewish populations. Since DNA testing can be performed on saliva samples, these findings provide reassurance that screening for Tay-Sachs disease can be done accurately and effectively through NextGen sequencing testing on saliva.
“Based on the results of this study, people can feel comfortable accessing carrier screening for many diseases at the same time through NextGen sequencing on saliva, and can be reassured that the Tay-Sachs results from this screening are highly accurate,” said Karen Arnovitz Grinzaid, Executive Director of JScreen.
“Overall, the data we present provide evidence and support for NGS‐based screening as the optimal method to identify TSD carriers, irrespective of ethnicity,” concluded the study. For more information on the study, or to review the entire article, please visit https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.836
This work was supported by the National Tay-Sachs & Allied Diseases Association (NTSAD) on behalf of itself and its affiliates, the Mathew Forbes Romer Foundation, the Cameron and Hayden Lord Foundation, New York Area of NTSAD, and the Evan Lee Ungerleider Fund of NTSAD, Myriad Women’s Health, and the JScreen carrier screening program at Emory University.
Additional Background and Information on Tay-Sachs:
One in 30 Ashkenazi Jews are carriers of Tay-Sachs disease, 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 Jewish babies being born with Tay-Sachs has fallen by more than 90 percent 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 & Allied Diseases Association (NTSAD), along with Ashkenazi Jews, French Canadians and Louisiana Cajuns are also 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. The 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.
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 non-profits 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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