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What Does It Mean?: Feb 9, 2015

The enthusiasm surrounding personalized medicine is overshadowing a vital issue: many physicians aren't familiar with how to interpret and communicate genetic testing results, the New Yorker's Cynthia Graber writes.

For example, she recounts a situation in which a little girl underwent genetic testing to try to determine the cause of her poor coordination and short stature. The test revealed that she had a deletion on chromosome 22 that was a marker for DiGeorge syndrome, a condition for which there is no cure. However, a second look at the results found that the girl was missing a different part of the region than the one linked to the syndrome. Graber says that such mistakes are common and could lead to unnecessary surgeries or influence maternity care.

Many physicians, Graber notes, went to medical school before genomics took off, and though there are medical genetics specialists, those specialists can even have a tough time keeping up with the literature. Additionally, what information doctors do get about genetic tests often come directly from the companies providing the testing and those marketing materials may play up their abilities, Graber says.

"[O]ver time everyone will come to have a better understanding of genetics," Mary Norton, clinical geneticist in high-risk obstetrics at the University of California, San Francisco, tells the New Yorker, but she adds that as demand for testing increases, "it will probably be a bit worse before it gets better."