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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SEPTEMBER 26 • 2019 | 101