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New study reveals optimal method for identifying Tay-Sachs carriers 

ATLANTA, Georgia – A new study suggests that Next Generation DNA Sequencing, which can be performed on saliva, is the optimal method for identifying Tay-Sachs carriers across ethnic groups.

“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, a national not-for-profit education and genetic carrier screening program. JScreen has expanded screening panel tests for Tay-Sachs and more than 200 other diseases through at-home DNA testing on saliva

In keeping with Tay-Sachs Awareness Month in September, JScreen encouraged 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. 

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 through NextGen sequencing testing on saliva.

“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, board president of the National Tay-Sachs & Allied Diseases Association. “Tay-Sachs Awareness Month brings an important opportunity for the public to be educated about the importance of screening.”

 For more information, visit https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.836.

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