Women in one family sought preventive surgeries to head off their risk of developing cancer following genetic testing results, but the Wall Street Journal reports that their mutation was later downgraded to a variant of uncertain significance.
While Susan Manley, a board-certified genetic counselor and senior vice president of medical services at Myriad Genetics, which conducted the family's testing, tells the Journal such downgrades are rare, she notes that "rare is of no consolation to the patient when it happens to them."
As more people undergo genetic testing, researchers and labs learn more about different mutations or variants in genes like BRCA and how those alterations might affect people's risk of developing cancer, the Journal notes.
After her initial testing, Katy Mathes tells the Journal she'd been told she had an 84 percent risk of developing breast cancer by the age of 70. After the downgrade, she still had a higher lifetime risk of breast cancer than the general population, about 21 percent. "That is not high enough to make me remove organs. I would have had another kid. I would have waited to do surgery," Mathes says.