A recent U.S. Preventive Services Task Force statement reiterates the importance of screening women for BRCA1/2 mutations and recommends that more women undergo risk-assessment screening, including those with a personal history of certain cancers and those with certain ancestries. Experts consider the recommendations a positive, if incremental, step that will likely have the biggest impact on community practices.
The U.S. Preventive Services Task Force (USPSTF) recently reiterated the importance of screening women for potentially harmful BRCA1/2 mutations and recommended that more women undergo risk-assessment tests, including those with a personal history of certain cancers and those of an ancestry associated with the mutations. Experts consider the new recommendations a positive, although incremental, step that will likely have the biggest impact on nonspecialists such as general practitioners and community oncologists.
BRCA1/2 mutations can drastically increase a woman's likelihood of developing breast, ovarian, fallopian tube, or peritoneal cancer during her lifetime; these mutations occur in 5% to 10% of breast cancers and 15% of ovarian cancers. In 2013, the USPSTF recommended that women with a family history of these cancers receive a risk-assessment test to determine whether their family history could be associated with BRCA1/2 mutations, and, if the results are positive, undergo genetic counseling and testing.
Since 2013, evidence supporting the validity of BRCA1/2 testing has accumulated, along with evidence of the benefits of testing. Now, the USPSTF also recommends that women with a personal history of breast, ovarian, fallopian tube, or peritoneal cancer who no longer have symptoms undergo a risk-assessment test, as well as women of Ashkenazi Jewish descent or other ancestry associated with BRCA1/2 mutations. As before, if women receive a positive score on a risk-assessment test, they should undergo genetic counseling, and, if deemed appropriate, genetic testing.
For Timothy Rebbeck, PhD, of Dana-Farber/Harvard Cancer Center in Boston, MA, the recommendations improve incrementally on those from 2013 by expanding risk-assessment tests beyond women with a family history of cancer. “This statement really confirms that we should be encouraging those people who are eligible for testing to undergo it, because they'll benefit,” he says. Although he notes that the recommendations likely won't significantly affect specialists already performing screening and testing, they will be valuable for general practitioners, obstetrician-gynecologists, and community oncologists seeking guidance.
However, Rebbeck says the USPSTF could go further. “In my mind, these recommendations are probably a little too conservative,” he comments. “The literature tends to say that the downsides of genetic testing are relatively minimal overall—it seems like we should be expanding the opportunities for testing more than we have.” For example, Rebbeck thinks that more patients with newly diagnosed cancers should be routinely tested.
Kevin Hughes, MD, of Massachusetts General Hospital in Boston, agrees. “There are a tremendous number of people who have BRCA1/2 mutations who have not been tested despite the fact that we've been doing testing for almost 25 years, and many women are developing cancers that [could be prevented] or developing cancers that could have been found at an earlier stage,” he says.
Hughes adds that because BRCA1/2 mutation testing occurs as part of screening a larger panel of genes, calling for greater BRCA1/2 assessment will automatically translate into more genes being interrogated overall; thus, advocating testing for one particular mutation that ups cancer risk won't reflect common practice.
“I know it's a BRCA1/2 recommendation, but I don't think you need to split out BRCA1/2 from colon cancer or Lynch syndrome or other problems—once primary doctors start testing for BRCA1/2, they are going to test the whole panel,” he says. –Catherine Caruso