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!
  • Can you guess what the most boring job in the army is?
  • What the foolish rabbi of Chelm teaches us about Israel and the Palestinian unity deal:
  • Mazel tov to Idina Menzel on making Variety "Power of Women" cover! http://jd.fo/f3Mms
  • "How much should I expect him and/or ask him to participate? Is it enough to have one parent reciting the prayers and observing the holidays?" What do you think?
  • New York and Montreal have been at odds for far too long. Stop the bagel wars, sign our bagel peace treaty!
  • Really, can you blame them?
  • “How I Stopped Hating Women of the Wall and Started Talking to My Mother.” Will you see it?
  • Taglit-Birthright Israel is redefining who they consider "Jewish" after a 17% drop in registration from 2011-2013. Is the "propaganda tag" keeping young people away?
  • Happy birthday William Shakespeare! Turns out, the Bard knew quite a bit about Jews.
  • Would you get to know racists on a first-name basis if you thought it might help you prevent them from going on rampages, like the recent shooting in Kansas City?
  • "You wouldn’t send someone for a math test without teaching them math." Why is sex ed still so taboo among religious Jews?
  • Russia's playing the "Jew card"...again.
  • "Israel should deal with this discrimination against Americans on its own merits... not simply as a bargaining chip for easy entry to the U.S." Do you agree?
  • For Moroccan Jews, the end of Passover means Mimouna. Terbhou ou Tse'dou! (good luck) How do you celebrate?
  • Calling all Marx Brothers fans!
  • 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.