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As a Screen

A recent New York Times investigation found that many non-invasive prenatal tests often incorrectly give positive results for a number of rare genetic conditions, but geneticists say the article did not distinguish between screening and diagnostic tests.

At his KidsGenomics blog, Dan Koboldt, a genetics researcher, likens NIPTs to the metal detectors at the airport: most of the time when there is an alert, the person isn't carrying anything dangerous, but the person is flagged so security officers check to be sure. Ellen Matloff, a genetic counselor and president and CEO of My Gene Counsel, similarly notes at Forbes that a NIPT screening result is not "wrong" if a diagnostic test gives a different result.

"[P]ositive NIPT results are the beginning of a process," Koboldt adds at his blog. "Many of those frightening positive results are later refuted by direct molecular testing or imaging studies."

But the Times article also points out that communication to patients may need to improve, as many patients tell it they were not aware of the likelihood of a false positive result. In a letter to the editor at the Times, Albert Einstein College of Medicine's Susan Klugman, the president-elect of the American College of Medical Genetics and Genomics, further writes that pre-test counseling is "crucial" before any medical test. Matloff adds at Forbes that this underscores the need for improved access to genetic counselors.