Jscreen, a national nonprofit education and genetic carrier screening program, reminds us that September is Tay-Sachs Awareness Month, encouraging people to have carrier testing for genetic diseases so they can make informed decisions about family planning.

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.

For additional information, visit: https://jscreen.org/