Discovering if you are a carrier for a Jewish genetic disease is a lot to take in — after all, one in three Ashkenazi Jews are carriers for some variation — but results are only a spit test away.
September is Tay-Sachs Awareness Month, but JScreen, a nonprofit public health initiative based out of Emory University, emphasizes the importance of more than just the single disease.
JScreen tests for more than 200 diseases — unlike exams a generation ago — half of which are more common in the Jewish community. The other half are found in all types of people, not just Ashkenazi Jews.
“[Tay-Sachs] is really the most commonly known Jewish genetic disease, so we’re trying to make sure that’s on everyone’s radar who’s going to be having kids within the next few years,” said Hillary Kener, JScreen assistant director of national outreach.
One in 30 Ashkenazi Jews are carriers of Tay-Sachs, and one in 300 from the general population are carriers of the fatal disease, which causes cell damage, resulting in progressive neurological disorders.
While there is no cure, genetic testing can determine who is a carrier and if their future child will be at risk.
For those at risk, there are options.
In vitro fertilization paired with pre-implantation genetic diagnosis has become the most prevalent; in the technique, the embryo is fertilized outside the body and cells are tested for diseases, so only healthy ones are implanted back into the mother.
Carrier couples can also go through with a pregnancy while doctors monitor the child through chorionic villus sampling.
Kener said one of the biggest misconceptions of getting tested is that it doesn’t pertain to interfaith couples, or same-sex couples using a sperm or egg donor.
“Twenty years ago, [Tay-Sachs] was the only [Jewish genetic] disease being tested for,” she said, “but now through more scientific research, more diseased genes have been found.”
Although the most well-known, Tay-Sachs isn’t necessarily the most significant anymore.
“There’s a lot of debilitating and devastating life-threatening diseases on our panel,” she said. “So why wouldn’t you get tested for everything?”
Tay-Sachs became the face of Jewish genetic diseases in the ’70s, during which many infants died.
“The community came together,” she said. Screenings were held at JCCs, and some rabbis required proof of a Tay-Sachs test before they married a couple.
The initiative was successful: Ninety percent of Tay-Sachs cases in the Jewish community were reduced.
But now as the millennial generation’s parents have been successfully screened, Tay-Sachs is not on their radar.
“This new generation who’s having kids haven’t heard of Tay-Sachs, isn’t planning on getting tested for it, or they think, ‘My parents were screened so I don’t need to get tested,’” Kener explained. “Well now there’s a slew of other Jewish genetic diseases that should be on their radar, so they really do need to be getting screened, and now it’s more important than ever.”
JScreen works with Hillels nationally to spread awareness to the younger generation by setting up pop-up screenings on college campuses or happy hours with young professional groups.
“We’re going to be in their face as much as possible so they know to do this and that screening becomes [a] mantra,” she added.
Tests are easily accessible. While screenings in the past required blood enzyme testing, these tests are mailed to you and conducted through DNA saliva with a spit kit, then mailed back to the lab.
Kits can be ordered online for $149, and results are returned in few weeks. Additionally, a licensed genetic counselor reviews your results with you.
Darren Hersch got screened for peace of mind. Neither his family nor his wife’s family have a history of Tay-Sachs, and their tests portrayed the same results.
“It was really just a precaution,” said Hersch from Northern Liberties. “To have that peace of mind if you’re trying to have children was a no-brainer.”
Jason Liebowitz also got screened.
“My parents, when they were getting married in New York state at the time, there was actually a requirement that they be tested,” he said.
His mother was not a carrier. His father, however, somehow avoided the screening because he was afraid of needles.
Now, Liebowitz and his wife, who live in University City, are planning on starting a family in the near future, so they both got tested.
“There was one very rare condition that I’m potentially a carrier for,” he said, but the genetic counselor explained it was low-risk, much lower than Tay-Sachs, of which neither were carriers.
“Knowledge is power,” he added. “I thought us having this information would be helpful and informative because it may have changed how we thought about having children biologically.”
If both partners are carriers of Tay-Sachs, Kener continued, there’s a one in four chance in each pregnancy to pass it on.
“This is really a community initiative, and it’s up to every one of us whether we’re done having kids, whether we haven’t started, to tell our friends, our siblings, our colleagues, our community members, because this needs to be something that everyone’s heard of,” she said.
“There’s no reason not to do this.”
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