October 22, 2018

Jewish genetic testing offered

Tammy Rubin wasn’t thrilled at the prospect of getting blood drawn by a phlebotomist. At least there was apple juice — and the prospect of life-changing knowledge — afterward.

The UCLA junior was sitting at a table outside of the campus’ Kerckhoff Hall on April 9, where the Los Angeles Jewish Genetic Disease Prevention Project and Progenity lab offered genetic screenings for both Ashkenazic and Sephardic Jews.

“It was so easy, so fun — well, less fun about the shot stuff — but all the phlebotomists were there cheering you on,” Rubin said. 

The event was in coordination with Hillel at UCLA and GeneTestNow (genetestnow.com), an organization encouraging Jews to undergo genetic screening before starting a family. The latter is an initiative of the Doris Factor Endowment Fund of the Jewish Community Foundation of Los Angeles and supported in part by TRIBE Media Corp., parent company of the Jewish Journal. 

The same event was held a day earlier at Hillel at USC. Together, the two-day project attracted nearly 100 people, according to one of Progenity’s project leaders. Participants will receive their test results — offered for $25 to those with insurance — after a few weeks.

Through tests like these, people can learn which genetic diseases they carry, even though they do not show its traits or symptoms. Because most Jewish genetic diseases are recessive, both parents need to be a carrier for a disease to impact the health of a child.

The discomfort of getting blood drawn, Rubin said, was more than worth it when considering the risks of not knowing whether she has the recessive genes carried by many Jews. 

For Ashkenazim with roots in Central and Eastern Europe, that could mean one of 19 genetic diseases. Not just high-profile ones like Tay-Sachs disease, but also lesser-known illnesses like nemaline myopathy, a muscle disorder, and Canavan disease, a progressive, fatal neurological disease.

Debby Hirshman, a consultant who traveled from New York to help organize the events, recalled meeting a Jewish couple in Atlanta who were tragically impacted by not having a genetic test done that was comprehensive enough. 

The couple’s first child was a healthy boy, but their second child, a daughter, reached few, if any, of her milestones by the time she was 4. A blood test revealed that she has mucolipidosis type IV (ML4), a neurological disorder, which, in this case, Hirshman said, will cause the girl to go blind at the age of 10 and prevent her from ever talking. Neither spouse knew they were carriers of the disease because one was tested for only four diseases and the other checked just eight. 

Awareness about some genetic disorders within the Ashkenazic community is widespread, but Hirshman said that when she spoke with Los Angeles rabbis before arranging the local events, each one indicated a willingness to publicize the testing as long as it included common genetic diseases within the Persian, Mizrahi and Sephardic Jewish communities.

Traditionally, Hirshman said, the barrier to getting people in the door for these tests is not hesitation at getting blood drawn or fear of hearing potentially negative news — it has been the cost. To address that, participants with insurance only had to pay $25 — a fraction of the normal cost of such comprehensive genetic testing procedures, which can easily run more than $1,000.

That was possible because the lab Progenity agreed to absorb the risk of insurance companies not paying the full bill, according to two local women who spearheaded these events, Heidi Bendetson and Stacy Sharf.

The testing process at both USC and UCLA was so quick, most people could be in and out in less than 30 minutes — unless, of course, they wanted to stick around to enjoy additional cookies and juice, and chat with the Progenity staff, who were more than happy to schmooze between consultations.

After signing in and registering, every participant was given the opportunity to interact with a Progenity genetic counselor, who explained the basics of recessive genes and why participants shouldn’t be disheartened if they are carriers. Modern techniques such as in vitro fertilization can help reduce the risk of two carriers having a child with a particular disease.

Following the counseling session, the unpleasant part — drawing blood — generally took less than a minute.

Shawn Feldman, who spoke with the Journal shortly before giving blood, said that any discomfort he has from getting tested is far outweighed by the knowledge that he will soon have.

“It’s not really fun for me,” said Feldman, a first-year pharmacy graduate student. “But I see it as a very, very small and transient price to pay for such a great benefit to so many people.”

The next Jewish genetic testing event in Los Angeles will be held at Wilshire Boulevard Temple on May 13, from 5 p.m. to 9 p.m. For more information, visit this article at jewishjournal.com.