Higher Tech Lowers Cost Of Genetic Screening

By Andrew Tobin

Published August 03, 2011, issue of August 12, 2011.
  • Print
  • Share Share

Screening for genetic disorders has come a long way since the first tests for Tay-Sachs disease in the late 1960s. At the time, clinicians screened the Jewish community by measuring enzyme levels in people’s blood. But in the late 1980s, newer genetic tests became available for Tay-Sachs and, soon after, for a range of other so-called “Jewish genetic diseases” including Canavan disease, cystic fibrosis and Fanconi anemia.

The DNA-based tests were more specific, allowing for more reliable diagnoses of whether people harbored rare recessive mutations. But the tests were also more expensive: Testing for each disease generally cost between $100 and $500, depending on the number of mutations inspected.

As the number of diseases included in community screens grew, so did the price tag for testing. And with more than a dozen diseases now routinely tested, commercial labs often charge thousands of dollars for the whole lot, and insurance companies vary on the degree of reimbursement.

New technologies, however, are bringing down the sticker price of genetic disease screening. Unlike older approaches — which were often laborious and time-consuming, requiring lab technicians to test for individual mutations one by one, in piecemeal fashion — most laboratory work is now automated, with many different genetic tests conducted in parallel on a single “gene chip.” As such, screening for the full panel of Ashkenazi Jewish disease can now cost as little as a single DNA test for Tay-Sachs did 20 years ago.

Already, several academic laboratories, including those at the Jacobi and Mount Sinai medical centers, have implemented the chip-based technologies in Jewish community screens around the New York area (although they continue to use enzyme-based assays in tandem with newer DNA methods to screen specifically for Tay-Sachs).

One of the first commercial companies to market the cheaper DNA approach is Counsyl, a startup based in California’s Silicon Valley. The preventive carrier-screening company now provides testing for 18 Ashkenazi Jewish diseases at $349, and plans to add Walker-Warburg syndrome to its panel later this summer.

However, gene chip methods may soon be supplanted by the latest DNA sequencing technologies. According to Counsyl’s president, Balaji Srinivasan, the company soon plans to offer full DNA readouts for nearly 100 diseases, including a dozen that are particularly common among Ashkenazi Jews. Counsyl has not yet priced the test, but Srinivasan said it will cost about as much as the current Jewish panel.

At that point, deciding what test to use will pose more of an epistemic than a financial dilemma, experts say. “Next-generation sequencing shows mutations that are less strongly correlated with disease,” said Dr. Susan Gross, director of the Program for Jewish Genetic Health at Yeshiva University. “So people have to ask themselves how much they want to know.”

Contact Andrew Tobin at tobin@forward.com


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!
  • “You can plagiarize the Bible, can’t you?” Jill Sobule says when asked how she went about writing the lyrics for a new 'Yentl' adaptation. “A couple of the songs I completely stole." Share this with the theater-lovers in your life!
  • Will Americans who served in the Israeli army during the Gaza operation face war crimes charges when they get back home?
  • Talk about a fashion faux pas. What was Zara thinking with the concentration camp look?
  • “The Black community was resistant to the Jewish community coming into the neighborhood — at first.” Watch this video about how a group of gardeners is rebuilding trust between African-Americans and Jews in Detroit.
  • "I am a Jewish woman married to a non-Jewish man who was raised Catholic, but now considers himself a “common-law Jew.” We are raising our two young children as Jews. My husband's parents are still semi-practicing Catholics. When we go over to either of their homes, they bow their heads, often hold hands, and say grace before meals. This is an especially awkward time for me, as I'm uncomfortable participating in a non-Jewish religious ritual, but don't want his family to think I'm ungrateful. It's becoming especially vexing to me now that my oldest son is 7. What's the best way to handle this situation?" http://jd.fo/b4ucX What would you do?
  • Maybe he was trying to give her a "schtickle of fluoride"...
  • It's all fun, fun, fun, until her dad takes the T-Bird away for Shabbos.
  • "Like many Jewish people around the world, I observed Shabbat this weekend. I didn’t light candles or recite Hebrew prayers; I didn’t eat challah or matzoh ball soup or brisket. I spent my Shabbat marching for justice for Eric Garner of Staten Island, Michael Brown of Ferguson, and all victims of police brutality."
  • Happy #NationalDogDay! To celebrate, here's a little something from our archives:
  • A Jewish couple was attacked on Monday night in New York City's Upper East Side. According to police, the attackers flew Palestinian flags.
  • "If the only thing viewers knew about the Jews was what they saw on The Simpsons they — and we — would be well served." What's your favorite Simpsons' moment?
  • "One uncle of mine said, 'I came to America after World War II and I hitchhiked.' And Robin said, 'I waited until there was a 747 and a kosher meal.'" Watch Billy Crystal's moving tribute to Robin Williams at last night's #Emmys:
  • "Americans are much more focused on the long term and on the end goal which is ending the violence, and peace. It’s a matter of zooming out rather than debating the day to day.”
  • "I feel great sorrow about the fact that you decided to return the honor and recognition that you so greatly deserve." Rivka Ben-Pazi, who got Dutchman Henk Zanoli recognized as a "Righteous Gentile," has written him an open letter.
  • Is there a right way to criticize Israel?
  • 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.