health

JSCREEN

New methods
make genetic
testing simpler
and faster.

Easy Screening

BARBARA LEWIS CONTRIBUTING WRITER

J

“There was a lot of blood
ennifer Kaluzny was screened for
panel” that includes Tay-Sachs, ABOVE: Last year,
Participants are identified only by a
inherited disorders more com-
familial dysautonomia, Bloom
number. When a young couple start dat-
marchers walked work. And waiting. And money,”
said Kaluzny. But, she added,
mon to the Jewish community long
syndrome, Fanconi anemia and
ing, or even before, they submit their ID
in Manhattan’s
“the technology is out there, so
before she was married in
Niemann-Pick disease.
numbers to Dor Yeshorim. Unless both are
Celebrate Israel
why not do everything you can
2007, simply because it seemed
carriers of the same gene mutation, Dor
It can also be used to
parade behind
like a good idea.
Yeshorim tells them they are compatible.
test for genetic disor-
JScreen’s banner. to ensure the health and wellbe-
ing of your children?”
Kaluzny, a rabbi at Temple
Those who are not compatible usually
ders more common in
In her first pregnancy, two
break off the relationship before it leads to
Israel in West Bloomfield, was
Sephardic and Mizrachi
embryos were implanted, one that was a talk of marriage.
not altogether surprised to
Jews.
carrier and one that was muta-
Confidentiality ensures indi-
learn that she carried a gene
JScreen, a nonprofit communi-
tion-free. Their daughter, Bayla,
ty-based public health program
viduals won’t feel any stigma
mutation. Approximately one
based at Emory University School 7, is perfectly healthy. Kaluzny’s
knowing they are carriers when it
in three Jews of Ashkenazi her-
Rabbi Jennifer
second pregnancy, again using
of Medicine in Atlanta, provides
likely will have no effect on their
itage is a carrier for one of the
Kaluzny
one carrier and one non-carrier
a “spit kit” that can be ordered
lives or the lives of their children,
dozens of disorders commonly
embryo, resulted in the birth of
online and mailed to the lab for
said Rabbi Leiby Burnham, direc-
called “Jewish genetic diseas-
twins, Asher and Sage, two years
screening. The procedure costs $149 for
tor of Partners Detroit’s Young
es.” When other disorders are included,
later. Unfortunately, Sage died
those with private insurance; limited
Professionals Division.
the figure rises to 60 percent.
soon after birth because of an
financial assistance is available.
Dor Yeshorim charges $275 for
Carriers do not get the genetic disor-
Rabbi Leiby
unrelated medical problem.
der, nor do their children — unless the
JScreen was started by Caroline and
individuals
and $200 to partici-
Burnham
The Kaluznys don’t know if
other parent is also a carrier.
Randy Gold of Atlanta. They’d had the
pate in a mass screening.
Bayla and Asher are carriers
Kaluzny, 40, was shocked to learn that standard genetic screening available
Burnham said he and his wife
of the gene mutation or not; they will
her husband, Ryan, 44, assistant city
years ago before their son, Natanel,
would not get engaged until they got the
undoubtedly be screened when they are “green light” from Dor Yeshorim.
attorney for Royal Oak, carried the same 11, was born. But it did not screen for
older.
Mucolipidosis Type IV (ML4), and they
mutation for Gaucher disease. Their
“I definitely plan on having all my chil-
Several other organizations offer
were devastated when their daughter
children would have a 1 in 4 chance of
dren get genetic screening. It could save
Eden was born with that very rare disor- screenings similar to JScreen, including
being born with the fatal disorder.
them from so much pain and suffering
the Norton & Elaine Sarnoff Center for
der. Eden, 9, cannot walk, feed or dress
September is Tay-Sachs Awareness
down the line!” he said.
Jewish Genetics Disorders in Chicago.
herself, or speak beyond a few guttural
Month, highlighting a genetic disorder
Jerry Feldman, M.D., a professor at
much more prevalent in the Jewish com- sounds.
Wayne State University School
munity than in the population at large.
In the past, couples who knew they
of Medicine and director of
SCREENING IN THE
ORTHODOX COMMUNITY
Concern about Tay-Sachs led to interest were both carriers for a genetic disease
its Clinical Genetic Services,
in screening for Jewish genetic diseases
had limited options in family planning.
says the number of identified
The Orthodox community has
in the 1970s.
They could remain childless or adopt.
disorders more common in the
another avenue for genetic
Since then, the incidence of Tay-Sachs Or they could conceive naturally and, if
Ashkenazi Jewish community
screening so that adults of child-
disease, which is invariably fatal, has
in-utero tests showed the fetus had the
has grown to more than 80,
bearing age can learn if a poten-
fallen by more than 90 percent because
disease, they could decide if they want-
but he notes that beyond that,
tial match is safe.
of genetic screening.
ed to terminate the pregnancy.
different labs may test for addi-
Dor Yeshorim was started 33
Dr. Jerry Feldman
Reproductive science has come a long years ago by Rabbi Yosef Ekstein
tional mutations that are found
way. Now couples can choose to use a
in many ethnic groups. “There’s
SCREENING GETS EASIER
after he and his wife lost four
donor egg or sperm, or, as the Kaluznys
no such thing as a standard
In the past, screening was done by a
children to Tay-Sachs disease. He
did, they can conceive via in-vitro fer-
panel anymore,” he said.
blood test administered at a physician’s
determined other couples should not suf-
tilization (IVF) with preimplantation
New genes are continually being
office or clinic or during a mass screen-
fer similar heartbreak.
genetic diagnosis.
added to the screens, so couples who
ing event.
Dor Yeshorim uses blood samples
After fertilization, embryos are tested
were tested several years ago and are
Now, a DNA sample, which can be col-
rather than DNA swabs. The organization
and only those that do not have the
considering having another child might
lected easily at home, can be screened
conducts mass screening drives at high
disorder are implanted and, hopefully,
want to be retested. •
for more than 200 genetic disorders,
schools, yeshivas and colleges around the
carried to term.
including the “Ashkenazi Jewish genetic
world.

54

September 28 • 2017

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