Doctors often fail to recommend genetic testing for breast-cancer patients, even those who are at high risk for mutations linked to ovarian and other cancers, according to a study published Tuesday.
Researchers said the findings, which appear online in the Journal of the American Medical Association, are troubling because genetic tests can help guide women's choice of treatments for existing disease, as well as point to ways to reduce the risk of future cancer. Women who have a dangerous mutation might choose to have more stringent screening or opt to have surgery before a cancer develops, they said.
The study also found that many women who would benefit from genetic counseling do not receive it.
“Genetic testing can be a powerful tool for certain women,” said study author Reshma Jagsi, a radiation oncologist at the University of Michigan Health System. “It is worrisome to see so many of these women at highest risk for mutations failing even to have a visit focused on genetic counseling.”
Genetic tests can identify mutations of the BRCA genes, which are linked to ovarian, breast and other cancers. The tests were developed two decades ago but were initially costly. In recent years, faster, cheaper versions have become available.
For the study, researchers surveyed more than 2,500 breast-cancer patients in two regions of the United States two months after they had undergone surgery in 2013 and 2014. They asked whether the women had been interested in genetic testing and whether they had received it.
Although two-thirds of the women reported wanting genetic testing, less than a third actually got it, the study found. About 8 in 10 women at highest risk for BRCA mutations — because of family history or ancestry — said they had wanted testing, but only a little more than half received it.
Many of the women said they didn't get tested because their doctors never recommended it. A smaller number said the testing was too expensive.
The results suggest that many doctors do not recognize the importance of genetic testing for high-risk women, researchers said.
“This is our problem,” said Theodora Ross, director of the University of Texas Southwestern Medical Center's cancer genetics program. “How do we educate the doctors?”
When it comes to cancer screening, “most doctors are playing to where the puck is rather than where it's going,” added Ross, who was not involved in the study.
Asian Americans and older women were among those most likely to not get testing.
“Genetic counseling and testing are not well-matched to medical need,” said Allison Kurian, associate professor of medicine and of health research and policy at Stanford University School of Medicine. Kurian, the lead author of the study, said that more genetic counselors are needed and that doctors should improve their skills in managing cancer risk and communicating with patients.
The researchers said the limitations of the study included the fact that it was based on patients' own accounts — a point echoed by Ross. She said she would like to know what the doctors had to say about these cases.