BRCA Genetic Screening Recommendations Miss the Mark
September 2019 - Recommendations published by the U.S. Preventive Services Task Force (USPSTF) guide the use of many health screenings and determine which preventive services are available at no cost-sharing under the Affordable Care Act (ACA). Typically reviewed and updated every 5 years, the Task Force recently published new guidelines that slightly expand the population eligible for BRCA counseling and testing by adding "women who have an ancestry associated with BRCA1/2 gene mutations." While this change is positive, the guidelines are significantly lacking and fall short of meeting the needs of Americans who may be at increased risk of cancer due to hereditary factors.
The updated guidelines state that the patient population under consideration includes "women who have never been diagnosed with BRCA-related cancer, as well as those with a previous breast, ovarian, tubal, or peritoneal cancer diagnosis who have completed treatment and are considered cancer free but have not been previously tested." Contrary to what some have claimed, inclusion of women with a prior cancer diagnosis is not new. The 2013 guidelines stated that the recommendation "applies to asymptomatic women who have not been diagnosed with BRCA-related cancer." After ongoing discussions with FORCE about the need to include survivors, federal agencies issued this clarification (see highlighted text, pages 2-3) in 2015. Similarly, the Department of Labor published an interpretation indicating that the guidelines also applied to women previously diagnosed with cancer, "as long as she is not currently symptomatic of or receiving active treatment for breast, ovarian, tubal, or peritoneal cancer."
Earlier this year, the Task Force invited public comments on new draft guidelines for "BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing." In our opinion, the proposed guidelines did not adequately represent the wide-ranging needs of the hereditary cancer community. FORCE, joined by over a dozen other patient advocacy organizations, submitted a comprehensive response advocating for more current and inclusive recommendations. Unfortunately, the Task Force did not incorporate most of these suggestions.
Ultimately, the new guidelines fail to include key populations including men, women with a personal or family history of cancers other than breast or ovarian, and patients currently undergoing treatment. There is a relationship between inherited mutations such as BRCA and cancers beyond breast and ovarian, including prostate, pancreatic, male breast, and others. A substantial portion of people with mutations that increase their risk of cancer are missed with the narrow definition of the population under consideration.
Mutations Beyond BRCA
The recommendations neglect to acknowledge that multigene panels are now the standard-of-care in cancer genetic testing. Mutations in genes including but not limited to ATM, CDH1, CHEK2, MLH1, MSH2, PALB2, PTEN, TP53 and STK11 increase the risk of breast and/or ovarian as well as other cancers. Multiple studies demonstrate that compared with multigene next-generation sequencing (NGS) panels, BRCA1/2 testing alone misses potentially actionable findings in a substantial proportion of cases.
Screenings & Interventions
Rather than give letter grades to the preventive screenings and risk-reducing surgeries needed after a person learns that they carry a mutation, the Task Force simply outlines the options. This leads to insurance coverage gaps for genetic testing and related services such as mammograms before age 40, breast screening MRIs, and risk-reducing surgeries. FORCE advocates that these interventions constitute "prevention" and should receive letter grades from the USPSTF in order to facilitate affordable access. Without letter grades from the Task Force, insurers are not required to cover the vast majority of services needed by those at high risk of cancer. Many people incur large out-of-pocket expenses on an annual basis as a result.
06/2/2022 - Asked congressional leaders to continue support and to increase funding for the Congressionally Directed Medical Research Programs (CDMRP) at the Department of Defense (DoD).
5/22/2022 - Provided feedback to the Senate HELP Committee urging changes to the VALID Act, which would reform the way lab tests are regulated. This followed a sign-on letter regarding the bill submitted the previous week.
5/11/2022 - Joined 90 orgs in a letter to House leadership urging them to include measures to improve clinical trial diversity in this year’s Prescription Drug User Fee Act (PDUFA) reauthorization.