Familial dysautonomia. Canavan disease. Niemann-Pick disease. Bloom syndrome.
If these sound unfamiliar, it’s probably because the first thing that comes to your mind when you think of Jewish genetic diseases is most likely Tay-Sachs disease.
You’ve probably even gotten tested for Tay-Sachs, as it occurs most commonly in people with Ashkenazi Jewish heritage, though it is not the only Jewish genetic disease despite being perhaps the most well-known.
“It is estimated that nearly one in three Ashkenazi Jews in the United States is a carrier of at least one of 19 Jewish genetic diseases,” according to the Jewish Genetic Disease Consortium’s website.
However, as geneticists can tell you, technology has gotten more and more advanced — there are tens more diseases, maybe even hundreds, to be tested for these days.
Grouped together as Jewish genetic diseases — though they don’t all only show up in Jewish people — some of these gene mutations can show up in all populations.
“This term describes a group of conditions which are unusually common among Jews of Ashkenazi, Central and Eastern European descent,” per the Norton and Elaine Sarnoff Center for Jewish Genetics’ website. “Although these diseases can affect Sephardi Jews, non-Jews, and those from mixed backgrounds, they appear in those of Ashkenazi Jewish descent more often — as much as 20 to 100 times more frequently.”
With that in mind, there is one thing Dr. Adele Schneider wants you to do: Get screened.
Even if you aren’t Jewish, there may be Ashkenazi lineage in your heritage, so testing is important.
Schneider, the medical director at the Einstein Victor Center for the Prevention of Jewish Genetic Diseases in Philadelphia, has been working in genetics since she was in medical school.
For her pediatrics rotation, she was taken to a school and worked with children with physical and intellectual disabilities and loved the experience. Mixing this new passion with her interest in biochemistry, genetics seemed like a good fit.
And since she started working at Einstein, working with Jewish genetic diseases was even more of a natural fit.
She helped start the Victor Center along with founder Lois Victor — who herself lost two children to a Jewish genetic disease — in 2002 and created education programs and screening opportunities in Philadelphia and beyond.
“Genetics is a lot different than it was back then,” she said, reflecting on her start in the field back in the ’70s. “There’s much more to know now, more testing you can do, more you can learn — it’s an amazing field, it’s just growing daily.”
With that, she encourages others to learn more and think beyond Tay-Sachs.
“In the early 2000s, people thought only Tay-Sachs was what you needed to be screened for,” she said. “Then there were six and then nine and 11 — the number has increased exponentially as technology in genetics has advanced. Now that the technology has really advanced, you can screen for hundreds.”
Although there are panels for nearly 100 diseases to screen for today, Schneider said there isn’t really a specific number anymore.
“Mount Sinai in New York, which is really what I would call the leader in Jewish genetic disease screening, has a panel of 96 or 98 diseases,” she said, “which is Ashkenazi, Sephardic and diseases that affect all populations.”
Some diseases that have become more common don’t only affect Jewish people, such as cystic fibrosis or Gaucher disease. Pan-ethnic screenings are recommended for that reason.
“Nowadays, what we’re talking about more is screening everybody and being aware that people don’t know their ancestry. You might find somebody who doesn’t identify as Jewish but is carrying a mutation that is a Jewish genetic disease,” Schneider explained. “We’ve moved away from only Jewish genetic disease screening because so many people are intermarrying and we have to screen the partners.”
Getting screened is as simple as a blood test, and Schneider recommends to get screened as you think about starting a family but before becoming pregnant.
“We are trying to educate people to do that because that’s when you have the most reproductive options,” she said. “If you get screened and you know you’re a carrier and your partner is a carrier for the same thing, there are reproductive options.”
If both partners of a couple are identified as carriers of the same recessive condition, the couple has a 25 percent risk with each pregnancy to have a child affected with that disease, according to an informational brochure from the Mount Sinai Center for Jewish Genetic Diseases.
“The couple also has a 50 percent chance with each pregnancy to have a child who is a carrier with no symptoms of the disease,” read the brochure, “and a 25 percent chance to have a child who does not inherit a gene mutation from either parent and is not a carrier.”
So in all, there is a 75 percent chance of a healthy baby, Schneider added.
One way couples can get pregnant and test for the disease is through in vitro fertilization (IVF), which Schneider said has become very common. This allows them to test embryos and see which will be just carriers and which will be affected by a disease.
If couples choose to get pregnant “the regular way,” as Schneider called it, there is still the one-in-four chance in each pregnancy the child will be a carrier and 75 percent chance of a healthy baby.
This method also allows the couple to decide if they want to continue the pregnancy depending on the test results — which takes about two weeks, Schneider said — and is “more difficult because it usually involves keeping or terminating a pregnancy.”
She encourages people to visit the Victor Center for screenings and meet with the genetics counselor there to learn more about what the diseases mean for them. She particularly recommends that those who were screened in college and are now getting married get screened again — this typically includes those in their 30s.
“When they were screened, they were not screened for all the diseases there are now,” she said. “The first time I did a screening was in 2000 at Penn Hillel and those people are now mid-30s, many of them are married now and many came back for more screening.”
At that time, they screened for just six diseases. There are, of course, many more than six diseases to screen for now.
The Victor Center works with Jewish young adult and young professionals groups as well as rabbis and other community members to raise awareness about Jewish genetic diseases and getting screened.
“People should know that everybody of reproductive age should get screened and if you have Jewish ancestry, make sure you get screened for all the relevant diseases,” she said, emphasizing, however, the message is not just for one population. “It’s not just Jews now, it’s everybody. So the message really is for everybody of reproductive age.”
To make appointments at the Victor Center, call 215-456-8722 or visit victorcenter.org.
Contact: mstern@jewishexponent.com; 215-832-0740
