In Honor of Tay-Sachs Disease Awareness Month Organizations are Teaming Together to Spread Awareness of Genetic Testing

Tay-Sachs Disease

September is Tay-Sachs Disease Awareness Month. Voted on by the Senate unanimously in 2008, this month aims to spread awareness about this disease and the importance of carrier screening.

Tay-Sachs is caused by an absence of the HexA enzyme. This deficiency causes lipid to accumulate in the cells and cause neurological damage. This damage is progressive.

The disease is especially prevalent among the Ashkenazi Jewish population. One in every 30 of these individuals is a carrier of the disease compared to one in 300 of the general population. However, there is good news. Since the 1970s the number of children born with Tay-Sachs from parents of Ashkenazi Jewish descent has fallen by over 90%. This decline is directly due to the increase in genetic testing among this population.

One of the driving factors of this effect was the NTSAD.  The National Tay-Sachs & Allied Diseases Association (NTSAD) was founded in 1957 by the parents of a child with Tay-Sachs. They helped to create carrier screening programs and educational programs on Tay-Sachs.

Screening as a whole has begun to be regarded as a public health initiative.


JScreen is a nonprofit organization based in Atlanta, Georgia. Their headquarters are located at Emory University. They provide education as well as genetic carrier screening.

JScreen is a collaborative effort. Nonprofits, clinical geneticists, and businesses work together to ensure they are reaching the most people possible. It’s about education, confidential support, premier technologies, and personalized care. Those initiatives, they contend, are the keys to preventing genetic diseases like Tay-Sachs.

In honor of Tay-Sachs Disease Awareness month, JScreen has worked to encourage genetic testing. Their screening panel tests for over 200 diseases including Tay-Sachs. All it takes is a bit of saliva and the test can be done at home. This is novel because previously the disease had to be tested through blood samples. As it turns out, saliva actually has a higher detection rate for all populations. This testing using saliva is called Next Generation DNA Sequencing.

They explain that by screening, families will be able to make the most informed decisions possible.

A New Study

A recent study published in the Molecular Genetics and Genomic Medicine journal explained this novel finding. They describe Next Generation DNA Sequencing as the optimal method for Tay-Sachs screening. Importantly, it’s the most optimal method across all ethnic groups.  

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