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What's the Meaning of This?

Women with breast cancer and their physicians seek genetic testing in hopes of uncovering a mutation that can guide care, but sometimes the results muddy the waters instead, writes Gina Kolata at the New York Times.

When Angie Watts underwent genetic testing before her planned lumpectomy and radiation therapy, it came back with a result that gave her radiation oncologist pause: Watts had a mutation in a DNA repair gene and he suspected that the radiation treatment might exacerbate her cancer, Kolata writes. He urged her to consider a double mastectomy instead. However, when Watts asked a geneticist about the mutation, he told her the mutation wasn't known to be harmful and to go ahead with the radiation.

Since the doctors couldn't agree, Watts tells Kolata that "they left it up to me to decide." She went ahead with the radiation, which she said was nerve-wracking.

Other times, Kolata writes, genetic testing does uncover key mutations, but there are no drugs that actually target them or those drugs are still in clinical trials that some patients may not qualify for or they are very expensive and not covered by insurance. Patients, she adds, need to be ready to deal with such uncertainty, but often they are not.

"There are a few who benefit tremendously, but when patients come in expecting a cure, most are disappointed," Norman Sharpless, the director of the Lineberger Comprehensive Cancer Center at North Carolina, says.

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