FIGHTING CANCER
Surviving Cancer in Style
There’s a New Test for Cancer
Risks from a Longtime Jewish
Genetic Screening Program
F I G H T I N G CAN C E R
RENEE GHERT-ZAND | JTA.ORG
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OCTOBER 7, 2021
AFTER DISCOVERING a
suspicious lump in her breast
one day while in the shower,
Abby Match was diagnosed
with an aggressive form
of breast cancer. She subse-
quently underwent a bilateral
mastectomy, a hysterectomy,
chemotherapy and radiation.
It was only aft er she discov-
ered she was sick that Match,
35, learned she was a carrier of a
mutation in her BRCA1 gene —
associated with a signifi cantly
elevated risk for developing
breast cancer at a young age,
and also for ovarian and other
cancers. One in 40 Ashkenazi
Jews have a BRCA mutation,
which is 10 times higher than in
the general population.
Match, a speech pathologist
living outside Philadelphia,
wishes she had known before-
hand about her genetic
predisposition. She could
have – by having a genetic
screening. Had she known she
was a BRCA carrier, she could
have more closely monitored
herself for early signs and
taken certain preventive steps.
“Knowledge is power — it
is important to know the risks
ahead of time,” Match said. “It
doesn’t mean that it will happen,
but knowing allows you to take
actions to increase the chances
to live a long, healthy life.”
Having a genetic screening
for cancer risk is actually quite
simple — and recently became
easier with a national program
called JScreen that focuses on
the prevention of Jewish genetic
diseases. A nonprofi t project of
the Emory University School
of Medicine’s Department
of Human Genetics, JScreen
provides genetic screening tests
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for at-home use that can be
completed just by sending in a
saliva sample using a mail-in kit.
JScreen long has provided
subsidized reproductive testing
for genetic diseases, screening
for conditions like Tay-Sachs
disease that could impact a
couple’s future children.
Now the organization also
off ers cancer genetic testing,
including a comprehensive
panel of more than 60 cancer
susceptibility genes associated
with hereditary risks for breast,
ovarian, prostate, colorectal,
skin and many other cancers.
Genetic counselors discuss the
results with users by phone or
secure videoconference.
“Making cancer genetic
testing accessible is key,” said
Dr. Jane Lowe Meisel, associate
professor of hematology and
medical oncology at the Emory
University School of Medicine
and medical director for JScreen’s
cancer program. “Th is type of
testing is important because it
alerts people to their risks before
they get cancer. Th ey can then
take action to help prevent cancer
altogether or to detect it at an
early, treatable stage.”
If your mother or father has
a BRCA mutation, you have
a 50% chance of carrying it.
Aft er Match’s diagnosis, her
family members underwent
genetic screening and discov-
ered that Match’s mother,
Carla Rockmaker, 61, carries
the same BRCA1 mutation as
her daughter and had passed it
on to her.
“It was very distressing, to
say the least,” Rockmaker said.
Rockmaker, who lives in
Sarasota, Florida, decided to
undergo a preventive bilateral
mastectomy and also encour-
aged her fi ance to be screened.
It turned out that he carries a
BRCA2 mutation. Th e couple
plans to avoid excess sun
exposure and monitor their
health closely, as BRCA-related
cancers include pancreatic,
prostate and melanoma, in
addition to breast and ovarian
cancer. Jews also are at higher
risk of carrying a mutation in
the APC gene, increasing their
risk for colorectal cancer.
Aft er completing a pilot
project in Atlanta from July
2019 to June 2020, in which 500
people of Jewish background
were tested for mutations
in the BRCA genes, JScreen
formally launched its 60-plus
gene cancer screening test
nationally in January.
“For the Atlanta pilot, none
of the people tested had related
cancers in close family members,
but we still found that there was
a higher rate of BRCA mutations
than in the non-Jewish popula-
tion,” JScreen Executive Director
Karen Arnovitz Grinzaid said.
“We added the cancer panel to
our testing options because we
want to impact the health of
the Jewish community over the
entire life span.”
The subsidized cancer
screening requires a doctor’s
order and is available to anyone
age 21 and above.
JScreen, which originally
launched in 2013 with seed
funding from The Marcus
Foundation, initially focused
on reproductive screening for
those aged 18-45 to determine
the risk for having a child with
a genetic disease. Th is testing
helps parents and would-be
parents ensure that they are
taking the precautions necessary
to have healthy children. (For
example, couples in which both
parents are carriers of the same
genetic disease can minimize
their chances of passing it on
by conceiving via in-vitro fertil-
ization with pre-implantation
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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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OCTOBER 7, 2021
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