JSCREEN

J

Screen, a national not-for-
profit education and genetic 
carrier screening program 
is encouraging people to have 
carrier testing for genetic diseas-
es so they can make informed 
decisions about family planning 
as part of September’
s Tay-Sachs 
Awareness Month. 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 signifi-
cantly 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. 
“Affected babies are still being 
born to Jewish, interfaith and 
non-Jewish couples who are 
not offered testing,” said Staci 
Kallish, D.O., 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 car-
rier testing was done through 
enzyme testing on blood 
samples. A new journal article 
recently published 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 sam-
ples, 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. 

Health

Tay-Sachs
Awareness Month 

Saliva testing is the optimal method 
for identifying Tay-Sachs. 

By the Numbers

One in 30 Ashkenazi Jews are carri-
ers 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 1970s, 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. 

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