SummaryAnnounced this past August, the US Preventive Services Task Force (USPSTF) expanded risk assessment and genetic testing recommendations for BRCA-related cancers and recommendations for risk-reducing therapies. This expansion marks the growing importance of genetic literacy in the healthcare system.
In August and September, the USPSTF released updated recommendations about breast cancer susceptibility gene 1 and 2 (BRCA1/2) testing for cancers associated with BRCA1/2 mutations and risk reducing medication for prevention in this population. For testing, recommendations were updated to include women with a personal history of cancer. For medication, the 2019 recommendation included aromatase inhibitors as a recommended type of risk-reducing medication, an expansion of USPSTF’s 2013 recommendation.
USPSTF recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with breast cancer susceptibility 1 and 2 (BRCA1/2) gene mutations with an appropriate brief familial risk assessment tool (“B Grade”). Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated from counseling, genetic testing. The task force does not recommend these services for women who have never been diagnosed with breast cancer or whose personal or family history is not associated with potential harmful BRCA1/2 gene mutations (“D Grade”).
Mutations in BRCA1 and BRCA2 increase the risk for breast, ovarian, fallopian tube, and peritoneal cancer in women, breast cancer in men, and, to a lesser degree, pancreatic and early-onset prostate cancer. Moreover, these mutations occur in 1 in 300 to 500 individuals in the general population and are more common among Ashkenazi Jewish and Hispanic populations. Interventions to reduce risk for cancer in mutation carriers include earlier and more frequent cancer screenings, risk-reducing medications, and risk-reducing surgeries.
In tandem with the recommendations for risk assessment and genetic counseling for BRCA 1/2, the task force also expanded their recommendations for prescription of risk-reducing medications. The USPSTF recommended (“B Grade”) that clinicians offer to prescribe risk-reducing medications (e.g., tamoxifen, raloxifene, aromatase inhibitors) to women at an increased risk for breast cancer who are asymptomatic and have never had a breast cancer diagnosis. The task force does not recommend these services for women who are not at increased risk (“D Grade”).
While USPSTF’s recommendations were broadened to include a wider screening-eligible population and more risk-reducing medications, the path forward for stakeholders may be unclear.
Avalere has identified 4 key takeaways for understanding the impact of USPSTF’s recommendations:
- The 2019 recommendation for BRCA-related cancers differs from the 2013 recommendation in that the screening-eligible population now includes those with a personal cancer history and with ancestry linked to BRCA1/2 mutations.
- With a “B Grade” recommendations from the task force, Medicaid expansion programs and commercial health plans must offer these services with no cost sharing to women specified. However, with a “D Grade,” health plans do not have to offer these services to women are not included in the screening populations and may impose cost sharing if they are prescribed.
- When appropriately used, genetic counseling reduces anxiety and depression, increases understanding of risk, and reduces interest in unauthenticated genetic testing. However, the ability of risk assessment, testing, and counseling to reduce cancer incidence and mortality among women has not been directly evaluated by studies to date.
- Though not specifically mentioned by the USPSTF, discovering a BRCA mutation has important implications for treatment. Poly (ADP-ribose) polymerase (PARP) inhibitors have shown success in patients with BRCA-driven cancers.
Currently, there are no specific recommendations for men or for individuals of a particular ancestry. As research and awareness about BRCA-related cancers continues to grow, it is likely that USPSTF will update their recommendations accordingly in coming years.
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