ROCHESTER, NY (WXXI) – A growing body of evidence, including a study published last week in the Journal of Clinical Oncology, is calling into question the current guidelines on who meets the criteria for genetic testing for breast cancer susceptibility.
Provenzano said the guidelines were developed when geneticists were testing for only two irregularities in a person’s genes, and getting the results was often prohibitively expensive.
“They’re now more affordable, and the technology has improved, such that you can do multiple genes at one time,” Provenzano said, “so some labs are offering up to 80 genes tested at one time, for much less cost than we’ve seen in the past.”
She said getting the results of these tests can be lifesaving, because about half of all breast cancer patients carry genetic mutations that predisposed them to developing the disease, but they didn’t meet the family history criteria for medical providers to order the tests.
“If you can identify patients that are exceptionally high risk for developing cancer, you can then intervene. You can incorporate preventive strategies,” Provenzano said, “and early detection.”
But the decades-old guidelines are making many insurance companies and medical providers balk at doing those tests, which look at what’s called “germ line genetic information,” journal articles have said.
Provenzano said direct-to-consumer genetic testing like that offered by 23andMe and Ancestry DNA are made possible by the same technological advancements that enable doctors to test people for a predisposition to cancer. But she cautioned that those consumer tests are not effective tools for informing medical decisions.
The National Institutes of Health also warns people that home tests “can be stressful and anxiety-producing.”
“I’m worried about people getting them in their Christmas stockings,” Provenzano said. “Genetic testing is incredibly complex. You can’t accurately interpret them alone.”