What Was Not Covered
The USPSTF recommendation did not cover management of BRCA1/2 mutation-related increased cancer risk, but the statement still noted that interventions to lower cancer risk, such as intensive screening, risk-reducing medications, and risk-reducing mastectomy and salpingo-oophorectomy, are a part of care for women with harmful BRCA1/2 mutations.1
More recent advances in understanding the role of deleterious mutations in BRCA1/2 genes in the development of various types of cancer have not abrogated the need for better elucidating risk assessment and testing in the general population. “Because risk assessment is primarily based on family history, more research is needed to better understand how women with an unknown family history should be assessed for BRCA1/2 mutation risk,” explained the USPSTF in its recommendation. The task force also suggested a need to understand the optimal mode of delivery for genetic counseling, for an expanded database of patients receiving genetic counseling for heritable breast or ovarian cancer who are tested for BRCA1/2 mutations, and research about the efficacy of intensive cancer screening and risk-reducing drugs on long-term clinical outcomes.1
Nonspecific to Subgroups
As Lisa Newman, MD, MPH, of the Breast Center at Weill Cornell Medicine in New York, New York, pointed out in an accompanying editorial published in JAMA Surgery, the USPSTF statement fails to address the variability in breast tumor phenotypes and disparities in genetic testing referrals for African American women, a population with a particularly high rate of triple-negative breast cancer (TNBC). Additionally, as Dr Newman pointed out, the statement does not take into consideration the unclear role of chemopreventive intervention in BRCA1 mutation carriers, especially as BRCA1-associated breast cancer is predominantly TNBC so does not respond to estrogen-receptor modulators or aromatase inhibitors. “[A]s with any other guideline, it remains imperative for clinicians to exercise clinical judgment and to be mindful of patient subsets that do not necessarily fit into recommendations designed for the majority or general populations,” concluded Dr Newman.4
The recommendation’s expansion of patients eligible for screening and clear inclusion of ancestry associated with BRCA1/2 mutations improves its utility, although opportunity remains for specific recommendations for subgroups of patients beyond the general population.
1. US Preventive Services Task Force; Owens DK, Davidson KW, Krist AH, et al. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force Recommendation Statement. JAMA. 2019;322(7):652-665.
2. McAllister KA, Schmitt ML. Impact of a nurse navigator on genomic testing and timely treatment decision making in patients with breast cancer. Clin J Oncol Nurs. 2015;19(5):510-512.
3. Domchek S, Robson M. Broadening criteria for BRCA1/2 evaluation: placing the USPSTF recommendation in context. JAMA. 2019;322(7):619-621. 4. Newman L. US Preventive Services Task Force breast cancer recommendation statement on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer [published online August 20, 2019]. JAMA Surg. doi:10.1001/jamasurg.2019.3184