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‘A fresh look’
Dr. Harold J. Burstein, an oncologist at the Breast Oncology Center, Dana-Farber Cancer Institute in Boston, applauds the investigators for raising the issue of widespread screening for the mutations.
“It has really, I think, done a service, because it has made people take a fresh look at some of the ideas that have been kicking around for quite a while,” he said in an interview.
Dr. Harold J. Burstein
He noted that testing for the mutations has usually been reserved for breast cancer patients or other women who had an estimated 10% or greater chance of having a hereditary mutation, based on factors such as age of onset, family history of breast cancer, and Ashkenazi ancestry.
But since the advent of genetic testing for BRCA mutations, technological advances have made screening easier, faster, and less expensive. More importantly, clinicians and patients have become better informed about the significance of positive results, and the discussion of clinical options such as surveillance or prophylactic salpingo-oophorectomy or mastectomy has become more nuanced, Dr. Burstein said.
“A lot of the earlier concerns about how people would deal with positive results have not materialized,” he said. “The benefit of 1-2 decades of experience with this is that when the results are clear, it’s clear that people can process the information, they can make well-informed choices, and they can be carefully followed or make informed decisions about prophylactic surgery that reflect their own preferences.”
Dr. Kelly Metcalfe, a breast cancer geneticist at the University of Toronto, Canada, has studied the frequency of BRCA1 and BRCA2 mutations in Jewish women and in a referral-based population in Ontario (Br. J. Cancer 2013;109:777-9).
“I think that Mary-Claire does raise an interesting point,” she said in an interview. “In order for cancer prevention to be successful when we’re thinking about genetic testing, we need to identify those carriers before they develop it, and do something about it, because we do have very effective strategies to reduce and almost eliminate the chance that these people will ever get cancer.”
Dr. Metcalfe, who is also a professor at the University of Toronto, said that although current guidelines call for genetic testing only of those individuals with a personal or family history of cancer, her experience testing populations of Ashkenazi Jewish women and referral-based patients has demonstrated that the rules are too narrow.