NEW YORK – The US Preventive Services Task Force (USPSTF) has officially released its updated recommendations for BRCA-related cancer risk assessment, genetic counseling, and testing, maintaining the focus on family history that prompted reactions from patient advocate groups, testing labs, and others when the draft guidance was opened up to public commentary in February.
The USPSTF — an independent panel of experts appointed by the US Department of Health and Human Services' Agency for Healthcare Research and Quality — accepted public feedback on the proposed guidance until mid-March. Some aspects of the guidance were updated before the recommendations were published online today in the Journal of the American Medical Association, particularly around the risk assessment tools and screening in women with prior cancer diagnoses.
"In response to public comments the USPSTF clarified language regarding risk assessment and included additional information on the risk assessment tools referenced in the recommendation," members of the panel wrote in JAMA. "It also incorporated language clarifying that the recommendation includes women with a personal history of BRCA-related cancer who have completed treatment and are considered cured."
Still, the team explicitly recommended against broad screening for risky BRCA1/2 mutations in women in the US, who were the focus of the guidance. In women with no personal or family history of breast, ovarian, tubal, or peritoneal cancer and no high-risk ancestry, the panel concluded that there is little to no benefit in looking for risky mutations in the BRCA1/2 cancer susceptibility genes or applying interventions used to reduce risk in BRCA1/2 mutation carriers.
Instead, the updated guidance indicated that primary care clinicians should turn to a familial risk assessment tool for women with a personal or family history of those cancers or related ethnicity, such as Ashkenazi Jewish ancestry, before referring patients for genetic counseling, genetic testing, or post-testing interventions, if applicable. The approach appears to have a "moderate" benefit in that patient population according to the evidence on hand, the authors noted.
The USPSTF team did not address BRCA-related cancer risk assessment for biological males, nor did they deal with the risk of other types of cancer with proposed ties to BRCA1/2 such as pancreatic cancer, prostate cancer, or melanoma.
"The USPSTF recognizes the association of BRCA1/2 mutations with cancers such as pancreatic, prostate, and melanoma," they wrote. "However, the scope of the recommendation is limited to the prevention of breast, ovarian, tubal, and peritoneal cancer because the net benefit demonstrated was in the prevention of these cancers."
The recommendations were based on a review of more than 100 studies involving 92,712 individuals, also appearing online today in JAMA. After wading through randomized clinical trials, discriminatory accuracy studies, and observational studies accumulated since the last USPSTF update in 2013, authors of the analysis looked at the possible risks or benefits of BRCA1/2 risk assessment, counseling, testing, or intervention.
They also considered the accuracy of risk assessment tools on hand, searched for studies investigating cancer incidence and mortality rates in women with or without BRCA1/2 screening, and reviewed available data on risk reduction strategies in women with risky BRCA mutations.
"Among women without recently diagnosed BRCA1/2-related cancer, the benefits and harms of risk assessment, genetic counseling, and genetic testing to reduce cancer incidence and mortality have not been directly evaluated by current research," the authors noted.
In one of several related editorial articles in JAMA, Susan Domchek, executive director of the University of Pennsylvania Basser Center for BRCA, and Mark Robson, an oncologist at Memorial Sloan Kettering Cancer Center, noted that the "addition of women with prior breast and ovarian cancer is an important step forward," but cautioned that undertesting on individuals in known high-risk groups remains a problem even as avenues for testing are expanding.
They further noted that the updated guidelines do not address BRCA1/2 testing in the context of clinical management for women with new or advanced breast cancer diagnoses, where BRCA mutation status may inform treatment strategies.Â
"While further expansion of the USPSTF recommendation should be considered," they wrote, "the importance is clear: identification of individuals at risk of carrying a BRCA1/2 mutation can be lifesaving and should be a part of routine medical care."