September is Tay-Sachs Awareness Month, an urgent reminder for people to get tested for genetic diseases so they can make informed decisions about family planning. Expanded screening panels now enable for testing of more than 200 diseases, a significant development from a generation ago.
“The genetic screening offered today is fast, easy, and comprehensive,” says Karen Grinzaid of JScreen, which offers tests for genetic diseases through DNA saliva (“spit”) that can be collected at home and then sent to a lab. “While Tay-Sachs certainly is one of the more well-known diseases among Ashkenazi Jews, we test for over 200 diseases that affect people of all backgrounds. Young adults especially need to know if they are carriers and if their future children might be at risk.”
One in 30 Ashkenazi Jews are carriers of Tay-Sachs, and one in 300 people of the general population are carriers. While there is no cure for Tay-Sachs, genetic testing can determine who is a carrier and whether their child will be at risk for this and other diseases. For the small percentage of couples who are at risk, there are many options to help them have healthy children.
Since the 1970’s, the incidents of babies being born with Tay-Sachs has fallen by more than 90 percent among Jews because of scientific advances and increased screening in the Jewish community.
Currently, 80 percent of babies with genetic diseases are born to parents with no known family history of that disease.
JScreen notes that it detects nearly two times as many carriers of genetic diseases in people of Ashkenazi Jewish descent compared with the general population. One in three Jews is a carrier for one of the Jewish genetic diseases.
About: JScreen is a nonprofit 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 to the lab for DNA testing. If a person or couple’s risk is elevated, certified genetic counselors 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 DNA sequencing technology now allows for highly accurate testing on saliva.