Patients going into the doctor with one concern sometimes come out with others. For instance, a third of the people who undergo a CT scan of the heart are found to have shadows on their lungs that need to be checked out, writes Dina Fine Maron at Scientific American. Similar incidental findings, she notes, crop up in genetic tests that examine a broad portion of the genome, but with an added layer of uncertainty.
A patient Maron calls Laura Murphy went to the doctor to determine whether a skin flap she has was due to a genetic mutation. While she found that it was, she also found that she had a genetic variant that put her at increased risk for long QT syndrome. But it's not sure that she'll develop the disorder.
Policymakers and scientists, Maron notes, are tackling this by developing guidelines for returning incidental findings. In 2013, the American College of Medical Genetics and Genomics came out with a list of more than two dozen conditions whose variants are well understood and for which there are medical interventions that could help patients. It said that clinicians should return results regarding any of those variants to patients; it later added that patients should be able to opt out of receiving such information.
Murphy, who was referred to a cardiologist, may start beta-blockers to steady her heart rate.
"I was doing just fine until now, so why does it matter that I found this out?" she says to Maron. "I've been giving it a lot of thought, and if I hadn't gotten [the test] done, I might never have known about this. Now I'm wondering if I really want a lifestyle change. It's a lot to think about."