Community screening seeks to weed out genetic diseases

By Emily K. Alhadeff, Associate Editor, The Jewish Sound

For the first three months of his life, Sophie-Shifra Gold’s son, Isaac, had bad reflux. Then at four months, he was diagnosed with low muscle tone, hypotonia. At the end of April this year, Gold got an official diagnosis for her infant: Canavan Disease, a genetic disorder known to affect the Ashkenazi Jewish population. The disease is progressive and fatal, and one in about 40 Ashkenazi Jews is a carrier.

“I was very heartbroken and cried for two weeks straight,” Gold told The Jewish Sound via email. “After the two weeks of being in grief, I was determined to find the moral support for myself and my family.”

Along with attending her first Canavan fundraiser this year, Gold is spreading the word about the importance of genetic testing, particularly about Seattle’s first community screening on November 16 at Hillel at the University of Washington.

The screening consists of a brief counseling session and simple blood test, at the low cost of $25 with insurance. (Individuals without insurance coverage may contact the organizers for options.) Everyone considering children between the ages of 18 and 50 is encouraged to attend, including interfaith couples, Jews of Sephardic and Persian descent, and individuals with as few as just one Jewish grandparent.

According to publicity materials, one in four Ashkenazi Jews carry at least one of 19 Jewish genetic diseases, and one of three Sephardic and Persian Jews carry at least one of eight.

The genetic testing lab Progenity is conducting the screening, and Dr. Orly Steinberg, an OB/GYN in Mill Creek, serves as the lab’s medical liaison to sign off on the tests.

“Out in Mill Creek there aren’t that many Jews, but you start asking people, [and they’ll say], ‘Oh yeah, my grandma was Jewish,’” said Steinberg. “That’s where we need to be as physicians in terms of screening. If they have even one grandparent they could be a carrier. If they’re positive, then you end up testing the spouse.”

Neither Gold nor her partner have fully Jewish genetic heritage, but both
happened to be carriers of Canavan. Gold and her three siblings are unaffected, as is her older daughter, who has a different father.

If both parents are carriers of the same abnormal gene, their child has a 25 percent chance of being affected.

While the ramifications of both parents carrying the same abnormal gene can be devastating, the chances of testing positive as a carrier are low, said Steinberg, and the rate of genetic diseases has decreased as a result of a push to screen the Jewish community. Steinberg imagines the day when individuals will be able to advertise on JDate which, if any, diseases they carry, to avoid dating the carriers of the same condition.

“Just like people have the conversation about STDs,” she said, “They’re dating: They should be talking about their carrier status. If people are open about it then it’s not stigmatized.”

After the testing, which takes 30-40 minutes, participants will receive results in four to six weeks. Those whose tests show up with no abnormalities receive a letter; those who do have abnormalities will be called and set up with a counselor.

Discovering that you and your partner are carriers of the same abnormality is not the end of the world.

According to Debby Hirshman, the Jewish community outreach representative for Progenity who helped to organize the Seattle screening, “You have many options to have healthy babies,” such as in vitro fertilization that tests the embryos before implantation.

“If I was already screened for Canavan, it would not prevent me from having Isaac,” said Gold. But, she adds, “I hope my story will help everyone to become aware of how important genetic screening is to make the best choices about planning a family and becoming aware of rare genetic diseases like Canavan.”

 

For more information, or if you’re a doctor who would like to get involved, contact Debby Hirshman at debby@dhemah.com.