Genetic Testing For Sephardic Jews Faces Reluctant Community

Screening for Muscle Ailment Provides Alternate Model

Breaking Taboo;  Dr. William Warren Brien (left), former mayor of Beverly Hills, at the annual Neuromuscular Disease Foundation Gala with Carolyn Yashari Becher, executive director of NDF, which funds HIBM research and seeks to raise awareness about genetic disease in Sephardic communities.
Neuromuscular Disease Foundation
Breaking Taboo; Dr. William Warren Brien (left), former mayor of Beverly Hills, at the annual Neuromuscular Disease Foundation Gala with Carolyn Yashari Becher, executive director of NDF, which funds HIBM research and seeks to raise awareness about genetic disease in Sephardic communities.

By Anne Cohen

Published August 11, 2013, issue of August 16, 2013.
  • Print
  • Share Share
  • Single Page

(page 3 of 4)

“L.A. has a huge Persian Jewish community, so the need for that type of panel was great and we wanted to fill that hole,” said Catherine Quindipan, the genetic counselor in charge of the project.

From the results obtained by testing 1,000 people over two years, Cedars-Sinai was able to launch a Persian Jewish genetic panel in 2011, which enables prenatal screening for HIBM, pseudocholinesterase deficiency, polyglandular deficiency and congenital hydrocephalus — the four main genetic conditions prevalent among that population.

Similar panels are available in the New York area. In 2009, Dr. Martin Bialer of North Shore University Hospital in Long Island started developing a panel to screen for HIBM and Wolman disease, two conditions, he reasoned, that would have the most impact on couples thinking about starting a family.

“What we looked out for was, ‘What conditions does it make sense to screen for in a pregnant woman?’” he said.

Armed with their genetic status, carriers who want children have options. Randi Zinberg, a genetic counselor at Mount Sinai Hospital in New York, laid out three. A couple can choose to do nothing and take their chances — in the case of HIBM, the child will have a 1 in 4 chance of inheriting the condition if both parents are carriers. The second option is a prenatal diagnosis through chorionic villus sampling (done as early as 10 weeks), or amniocentesis (done from 15 weeks on). Early testing offers parents the options of terminating the pregnancy, or at the very least getting their options reviewed by a genetic counselor or physician. Finally, they can choose to use preimplantation genetic diagnosis, which tests the embryos for mutations prior to in-vitro fertilization, or gamete donation (sperm or egg).

Mount Sinai Hospital has developed a similar panel. But Ruth Kornreich, associate professor in genetics and genomic sciences, has broader plans. “We are currently working to expand our Jewish genetic disease panel, which would include both Ashkenazi and Sephardic Jewish mutations,” she explained, by which she meant mutations experienced by Jews from the Middle East.

But there is a special difficulty in developing an overarching panel for Jews from the Middle East. Unlike Ashkenazi Jews, who form a fairly unified transnational gene pool, Jews from the Middle East — Iranian Jews, Ethiopian Jews and Moroccan Jews, to name a few — each have their own discrete genetic diseases.

“For example, it might not make sense to screen for HIBM in a different [non-Iranian] subgroup,” Kornreich explained. This makes it harder to develop all-encompassing genetic tests similar to those tests now used for the Ashkenazi population.

Mount Sinai is currently determining the carrier frequencies for each disease, attributing them to relevant subgroups and validating the methodologies. The hospital hopes to have the expanded panel ready this year.

But the main barrier to screening remains the stigma that various populations of Jews from the Middle East attach to genetic disease.


The Jewish Daily Forward welcomes reader comments in order to promote thoughtful discussion on issues of importance to the Jewish community. In the interest of maintaining a civil forum, The Jewish Daily Forwardrequires that all commenters be appropriately respectful toward our writers, other commenters and the subjects of the articles. Vigorous debate and reasoned critique are welcome; name-calling and personal invective are not. While we generally do not seek to edit or actively moderate comments, our spam filter prevents most links and certain key words from being posted and The Jewish Daily Forward reserves the right to remove comments for any reason.





Find us on Facebook!
  • Can you relate?
  • The Forverts' "Bintel Brief" advice column ran for more than 65 years. Now it's getting a second life — as a cartoon.
  • Half of this Hillel's members believe Jesus was the Messiah.
  • Vinyl isn't just for hipsters and hippies. Israeli photographer Eilan Paz documents the most astonishing record collections from around the world:http://jd.fo/g3IyM
  • Could Spider-Man be Jewish? Andrew Garfield thinks so.
  • Most tasteless video ever? A new video shows Jesus Christ dying at Auschwitz.
  • "It’s the smell that hits me first — musty, almost sweet, emanating from the green felt that cradles each piece of silver cutlery in its own place." Only one week left to submit! Tell us the story of your family's Jewish heirloom.
  • Mazel tov to Chelsea Clinton and Marc Mezvinsky!
  • If it's true, it's pretty terrifying news.
  • “My mom went to cook at the White House and all I got was this tiny piece of leftover raspberry ganache."
  • Planning on catching "Fading Gigolo" this weekend? Read our review.
  • A new initiative will spend $300 million a year towards strengthening Israel's relationship with the Diaspora. http://jd.fo/q3Iaj Is this money spent wisely?
  • Lusia Horowitz left pre-state Israel to fight fascism in Spain — and wound up being captured by the Nazis and sent to die at Auschwitz. Share her remarkable story — told in her letters.
  • Vered Guttman doesn't usually get nervous about cooking for 20 people, even for Passover. But last night was a bit different. She was cooking for the Obamas at the White House Seder.
  • from-cache

Would you like to receive updates about new stories?




















We will not share your e-mail address or other personal information.

Already subscribed? Manage your subscription.