By Lilli Arbetter
Jewish genetic testing originated about 30 years ago with a successful carrier screening program
for Tay-Sachs disease. As a result, there has been a significant drop in the prevalence of this disease
amongst the Jewish population and, interestingly, most children born with Tay-Sachs disease
today have non-Jewish parents. However, although there are fewer babies born with Tay-Sachs
today, the carrier frequency rates have not changed. The need for genetic testing ultimately
remains the same and is crucial to improving society’s overall health and wellbeing and, in
particular, Jewish people. Since the development of testing, the panel for Jewish genetic diseases
continues to increase in the number of conditions for which one can be screened, ultimately
helping to reduce rates of other harmful diseases.
Although our DNA does not change, technology does. Our capacity for genetic testing has
advanced from simple genotyping, which determines the genetic variants that an individual
possesses, to genetic sequencing, which examines the exact order of DNA base pairs. In simpler
terms, genotyping highlights specific spelling errors in a sentence, while genetic sequencing checks
the whole sentence for mistakes, including grammar and spelling. As the capacity for genetic
testing has increased (indicated in the increased detection rate from 90% to 99%), a large number
of genetic conditions have been added to the panel.
Our genetic counselor, Melissa Ramos, offers a piece of advice:
"Similar to other genetic tests, technology continues to improve, and we are learning more about
genetic conditions every day. It's the same for carrier screening. It's no longer the "one and done"
type of test that it used to be."
This does not mean that you must get tested prior to each pregnancy. However, recognizing
changes in family health history and keeping up to date with available options for pregnancy,
especially if you are a carrier, is extremely important. By simply checking in with your OBGYN or
doctor to discuss any changes/additions to the panel, you are maximizing your options when it
comes to having a healthy pregnancy.
If you are considering getting screened, I recommend that you consider our carrier screening
program. The Sarnoff Center offers an online, on-demand carrier screening program that you can
complete from the comfort of your own home. Here is the link to the registration page and if you
have any further questions, please contact Carol Guzman at 312-444-2847: jewishgenetics.org/get-screened