FIGHTING CANCER
genetic testing of embryos).

JScreen’s ReproGEN test
screens for 226 genetic diseases,
many of which are commonly
found in the Jewish population
(Ashkenazi, Sephardic and
Mizrachi), and others that are
found in the general popula-
tion. Most of these diseases
are inherited in a recessive
pattern, meaning that a child
may have the condition only if
both parents carry a mutation
in that disease gene.

Each child of two carrier
parents has a 25% chance of
inheriting both mutations
and having the condition.

JScreen also screens for several
X-linked conditions that
can be passed from a carrier
mother to a child who may
have symptoms.

Some of these genetic
diseases are relatively common,
such as Gaucher’s, cystic fi brosis
and Tay-Sachs. However, Carly
Sonenshine, a 32-year-old social
worker in Atlanta, learned from
her JScreen test that she carries
a mutation for CPT2 defi ciency,
an extremely rare condition that
prevents the body from using
certain fats for energy. Th ere are
three main types of the disease,
one lethal to neonates.

JScreen counseled Sonenshine’s
husband to do the genetic panel,
too, before the couple began trying
to have children. Th ey discovered
he was a carrier for three genetic
diseases, including CPT2.

“We considered doing IVF,
but I got pregnant naturally
in the meantime,” Sonenshine
said. “We did chorionic villus
sampling [CVS] and learned our
son was just a carrier” — and not
affl icted with the disease.

However, they weren’t as
lucky when Sonenshine had
a surprise pregnancy just fi ve
months aft er their son’s birth.

Prenatal testing was positive
for the disease.

The couple considered
terminating the pregnancy,
but then Sonenshine’s husband
found some reputable research
indicating that the severity of
the condition could be deter-
mined based on the parents’
CPT2 mutations.

“We sent the researchers our
JScreen results, and they did the
analysis and were able to tell us
that our daughter would have a
mild and manageable form of
the disease,” Sonenshine said.

“We just need to make sure our
daughter eats a low-fat, high-car-
bohydrate diet in order to keep
her healthy. We wouldn’t have
known this without JScreen.”
Th ousands of people have
done reproductive testing
through JScreen over the years.

Adding the cancer genetic test
is bringing in a whole new
demographic, the organiza-
tion said. In the future, JScreen
plans to add screening for
other genetic risks. ●
    





 
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This article was sponsored by
and produced in partnership with
JScreen. JScreen now off ers a
new test for hereditary cancer risk.

To access testing 24/7, request a
kit at JScreen.org. This story was
produced by JTA’s native content
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