The nation’s breast surgeons are advising that all patients diagnosed with breast cancer be offered genetic testing to check for inherited mutations, fueling an intense debate about how such tests should be used to prevent and treat disease.
The American Society of Breast Surgeons, which sent its recommendations Thursday to its 3,400 members, said it developed the recommendation because current guidelines are too restrictive. “Too many patients develop cancers that might have been prevented or found earlier if genetic testing had been performed,” said Walton Taylor, a Texas breast surgeon who is president of the group.
In an interview, Taylor noted that the consensus statement says the tests “should be made available to all patients diagnosed with breast cancer,” but he added that “in our minds, that means offered.” He said the group, in its choice of language, was trying to avoid being overly confrontational with the nation’s premier guideline-setting group: the National Comprehensive Cancer Network, an alliance of leading cancer centers whose authoritative recommendations are closely followed by physicians and insurers. The NCCN endorses testing for inherited mutations for patients of certain ages and who have a family history of the disease but does not endorse universal testing for breast cancer patients.
Mary Daly, a Fox Chase Cancer Center geneticist who chairs the panel that writes the NCCN guidelines for hereditary breast cancer, called the surgeons’ recommendations interesting. But she added that many of the new inherited mutations being discovered so far are not “actionable.” That means they aren’t implicated in breast cancer, or it isn’t clear how much they raise the risk of the disease and whether they warrant any change in treatment, Daly said.
She said that figuring out what to do with newly found abnormalities is difficult. “We agonize over that question every year,” she said, adding that the NCCN committee will meet in April and discuss the surgeons’ recommendations.
More than 266,000 new cases of invasive breast cancer are diagnosed in the United States every year. Under the surgeons’ recommendation, almost all those patients would be tested, as would family members whose relatives discover they have mutations, said Taylor. It’s not clear how many people are being tested now, but experts said it is far fewer than what the recommendation contemplates. About 40,000 patients die of breast cancer annually.
Genetic tests that once cost thousands of dollars are now much cheaper. Some cost hundreds of dollars, depending on how many genes they test.
The best-known breast cancer mutations — or pathogenic variants, as many experts call them now — involve BRCA1 and BRCA2, whose roles in the disease have been recognized for decades. Defects in these tumor suppressor genes sharply increase a patient’s risk of developing breast cancer. Faced with that, some women undergo more-intensive cancer screening, while others, including actress Angelina Jolie, have their breasts removed as a preventive measure.
The surgeons’ recommendation got mixed reviews from oncologists and surgeons.
Otis Brawley, a former chief medical and scientific officer of the American Cancer Society, was skeptical. “Whether such an increase in screening would save lives is really an unknown,” said Brawley, an oncology professor at Johns Hopkins. “It is known it will increase costs. And it’s pretty assumable that it will increase the number of women who will get prophylactic surgery.”
But Deanna Attai, a breast surgeon at the University of California, Los Angeles and a former president of the breast surgeons’ group, said broader testing could give doctors and patients valuable information. Some recent studies, she said, suggest “we are missing a decent percentage of genetic mutation carriers and we are potentially undertreating them and not identifying family members” who might also be carriers and at higher risk for cancer.
A major impetus behind the surgeons’ recommendation came from a study published late last year in the Journal of Clinical Oncology. The study covered patients who were previously or newly diagnosed with breast cancer but had not had genetic testing. Of the 959 participants, 8.65 percent had inherited genetic defects, the study showed. Of the patients who met the NCCN guidelines for testing, 9.39 percent had at least one abnormality, while the rate was 7.9 percent for those who did not meet the guidelines for testing. The difference between the two groups was not statistically significant, said Peter Beitsch, a Dallas surgeon and the lead author of the paper. Investigators used an 80-gene panel test, but Beitsch said a smaller panel could be used.
Claudine Isaacs, an oncologist at the Lombardi Comprehensive Cancer Center at Georgetown University, was cautious about the recommendation, saying, "I think it’s opening up a conversation that we all need to be having.”
But she noted that any genetic test needs to be carefully interpreted — in part because it’s likely to turn up what are called “variants of unknown significance.” In most cases, such abnormalities are harmless, she said, but some people might get overtreated. “You would not want to get bilateral mastectomies for that,” she said.
Still, Isaacs said, more genetic testing of some sort is on the way. “I do think that broader testing will become the standard of care at some point,” she said. “We have to develop some kind of system to provide for that and for the right interpretation.”