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Some Tay-Sachs Tests
Found To Be Wrong
DR. IviIRYAM WAHRMAN
Jewish Standard and Jewish
Community News
T
ay-Sachs Alert," declared
the advertisement that ran
June 23 in a number of
Jewish newspapers, includ-
ing the Detroit Jewish News.
The ad explained, "If someone in
your family was tested for the Tay-Sachs
gene and the test was screened by
Corning Clinical Laboratories,
MetPath, MetWest or Quest
Diagnostics between 1992 and 1998,
please contact us to determine whether
you need to schedule a free retest to
confirm your results. For women and
couples who are pregnant or plan to
become pregnant, we urge you to
contact us immediately."
Unfortunately, this alert was too
late for three couples who, despite
being tested and informed that
they were non-carriers, went on to
have Tay-Sachs babies.
"It's a voluntary retesting pro-
gram," reported Gary Samuels,
spokesman for Quest Diagnostics.
He explained that of the approxi-
mately 36,000 tests administered
between 1992 and 1998, "we are
aware of three [Tay-Sachs babies
who were born]."
Babies with Tay-Sachs appear
healthy for the first few months of
life, then begin to deteriorate, los-
ing mental and physical abilities.
As the disease progresses, a Tay-
Sachs child becomes blind, deaf,
unable to swallow, and eventually
paralyzed, usually dying by ages 3
to 5.
The most common test to deter-
mine carrier status relies on the ability
to detect levels of the enzyme hex-
osaminidase A in the blood. A defi-
ciency in that enzyme leads to a
buildup of lipids in the nervous sys-
tem, resulting in irreversible damage
to nerve cells.
One in 25 Ashkenazi Jews is a carrier
of the disease and can transmit a single
copy of the gene to his or her offspring.
When both parents are carriers, each of
their children has a 25 percent chance
of inheriting two copies of the gene,
and thus getting the disease.
The three types of tests now avail-
able include a blood serum test for
the enzyme, a leukocyte (white blood
cell) test for the enzyme, and a DNA
test. The Mount Sinai Center for
Jewish Genetic Diseases advertises
that its carrier screening for Tay-Sachs
disease, which uses enzyme tests, has
a "detection rate for carriers [of]
approximately 99 [percent]."
Genzyme Genetics, a commercial
company involved in Tay-Sachs test-
ing, reports a 98 percent sensitivity of
its enzyme test, but only a 94 percent
detection rate using DNA resting.
This is because DNA tests are so spe-
cific that some less-common muta-
tions are missed by the test.
Thus, people with less-common
mutations in that gene would be classi-
fied as non-carriers. For that reason,
Few Detroiters
To Be Contacted
All Tay-Sachs testing done by Sinai
Hospital of Detroit and the Detroit
Medical Center were processed at a
Wayne State University laboratory.
According to Eric Krivchenia of the
Jewish Genetic Screening Program of
DMC/WSU, there is only a slight pos-
sibility that local tests were sent to
outside labs (usually when required by
insurance companies). Even then, he
said, he does not believe that Quest or
its forerunners were used.
If individuals have questions, they
should contact their doctor who per-
formed the test.
Genzyme Genetics does not recom-
mend using the DNA test alone, but
rather in combination with, or as a con-
firmation of, the enzyme test results.
Of the 36,000 tests administered
during 1992 and 1998, Samuels esti-
mated that 8,200 individuals would
be recommended for retesting.
Samuels emphasized, "We expect that
99 percent of the people recommend-
ed for retesting will continue to be
[classified as] non-carriers." El
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