Forward Thinking

Who Tests the Genetic Tests?

By Doni Bloomfield

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Testing the Testers: The Coriell Institute and Genetic Testing from Doni Bloomfield on Vimeo.

What happens when you can’t trust a test meant to stave off a fatal disease? When, even if the test is 99% percent accurate, you don’t believe what it reports?

That’s a question that keeps geneticists like Dorit Berlin up at night. As head of the biobank at the Coriell Institute, a research lab in Camden, N.J., the cells she sends around the world are critical to ensuring that tests work. If a test she helps confirm goes awry, people may think they’re a disease carrier when they’re not, or believe they’re in the clear when they’re a carrier.

This is a particular concern for in-bred groups like Ashkenazi Jews with a large number of genetic diseases. In fact, a recent study found that some methods of screening for Tay Sachs falsely inform over 11% of carriers that they have nothing to worry about. The scary thing is that if a disease is rare enough, even very accurate tests may not be good enough because they may be telling too many people they have the gene when they don’t.

Fortunately, we have a way of finding out exactly how good a test is, and working to improve it. Coriell houses a massive biobank contains cells from thousands of people across the globe, including those with known genetic diseases. Their Ashkenazi panel, with numerous instances of confirmed disease-causing mutations, played a critical role in making sure that when we tell people that they’re not a carrier, we know what we’re talking about.

It’s a part of the process that’s less visible than the explosive revelations and path breaking discoveries, but without it the tests would be useless.

As Berlin, says: “It might not be as sexy as, ‘Oh, we found the disease gene,’ or, ‘We found a cure.’ But we are facilitating people getting tested and getting the correct results, which is also really important.”


Permalink | | Share | Email | Print | Filed under: ashkenazi, coriell, genetics, jewish

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