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Been Reclassified

While a person's genes may not change, what's known about different variations may evolve. As the New York Times reports, this means that sometimes a variant that was thought to be pathogenic may switch categories to benign or vice versa. Other times, variants whose effect was unclear may become known.

But getting that new information to patients isn't always straightforward. As the Times notes, many labs won't go back and re-analyze old results unless a physician asks them to, which is says rarely occurs. At the same time, patients move on and addresses and contact information change, so even if physicians learn new information, they may not be able to find a patient from a few years back.

Further, the Times says, even if patients are tracked down and informed of the reclassification, it might not lead to any treatment change, such as in the case of a child with severe epilepsy. But for others, like Ricky Garrison who had been found to have a with a VUS and was given a Lynch-syndrome-like diagnosis, a reclassification provided more certainty about his diagnosis and allowed his family to seek testing and beefed-up cancer screening.