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!
  • PHOTOS: Hundreds of protesters marched through lower Manhattan yesterday demanding an end to American support for Israel’s operation in #Gaza.
  • Does #Hamas have to lose for there to be peace? Read the latest analysis by J.J. Goldberg.
  • This is what the rockets over Israel and Gaza look like from space:
  • "Israel should not let captives languish or corpses rot. It should do everything in its power to recover people and bodies. Jewish law places a premium on pidyon shvuyim, “the redemption of captives,” and proper burial. But not when the price will lead to more death and more kidnappings." Do you agree?
  • Slate.com's Allison Benedikt wrote that Taglit-Birthright Israel is partly to blame for the death of American IDF volunteer Max Steinberg. This is why she's wrong:
  • Israeli soldiers want you to buy them socks. And snacks. And backpacks. And underwear. And pizza. So claim dozens of fundraising campaigns launched by American Jewish and Israeli charities since the start of the current wave of crisis and conflict in Israel and Gaza.
  • The sign reads: “Dogs are allowed in this establishment but Zionists are not under any circumstances.”
  • Is Twitter Israel's new worst enemy?
  • More than 50 former Israeli soldiers have refused to serve in the current ground operation in #Gaza.
  • "My wife and I are both half-Jewish. Both of us very much felt and feel American first and Jewish second. We are currently debating whether we should send our daughter to a Jewish pre-K and kindergarten program or to a public one. Pros? Give her a Jewish community and identity that she could build on throughout her life. Cons? Costs a lot of money; She will enter school with the idea that being Jewish makes her different somehow instead of something that you do after or in addition to regular school. Maybe a Shabbat sing-along would be enough?"
  • Undeterred by the conflict, 24 Jews participated in the first ever Jewish National Fund— JDate singles trip to Israel. Translation: Jews age 30 to 45 travelled to Israel to get it on in the sun, with a side of hummus.
  • "It pains and shocks me to say this, but here goes: My father was right all along. He always told me, as I spouted liberal talking points at the Shabbos table and challenged his hawkish views on Israel and the Palestinians to his unending chagrin, that I would one day change my tune." Have you had a similar experience?
  • "'What’s this, mommy?' she asked, while pulling at the purple sleeve to unwrap this mysterious little gift mom keeps hidden in the inside pocket of her bag. Oh boy, how do I answer?"
  • "I fear that we are witnessing the end of politics in the Israeli-Palestinian conflict. I see no possibility for resolution right now. I look into the future and see only a void." What do you think?
  • Not a gazillionaire? Take the "poor door."
  • 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.