USPSTF Recommendations for BRCA1 and BRCA2 Testing in the Context of a Transformative National Cancer Control Plan

Abstract

, issue of JAMA, the US Preventive Services Task Force (USPSTF) 1 offers updated recommendations for risk assessment, counseling, and genetic testing for the BRCA1 and BRCA2 genes. As in 2013, the USPSTF recommends risk assessment for women with family histories of breast, ovarian, tubal, or peritoneal cancers using risk stratification tools and offering those with positive results genetic counseling and possible testing (Grade B recommendation). The USPSTF continues to recommend against large-scale population risk assessment (Grade D recommendation). The 2019 recommendations explicitly add ethnicities and ancestries associated with pathogenic BRCA1 or BRCA2 gene variants (eg, Ashkenazi Jewish) as an indicator for risk assessment, dramatically expanding the number of testable patients in the primary care setting from the 2013 recommendations. Importantly, the USPSTF emphasizes that "Genetic counseling…should be done by trained health professionals, including trained primary care providers." With the increase in women eligible for genetic counseling and testing under these recommendations and the explicit directive for primary care practitioners (PCPs) to consider clinical genetics training per the 2019 USPSTF recommendations, the oncology community should welcome the opportunity to better integrate comprehensive cancer risk assessment and genetic testing for BRCA1 and BRCA2 into routine preventive medicine.

An Overview of PARP Inhibitors for the Treatment of Breast Cancer

“…Identification of BRCA mutations through early genetic screening allows increased monitoring and surveillance for breast (and other) cancers, and may provide the patient and their family with the opportunity for counseling, earlier stage BC diagnosis, and risk-reducing interventions [98][99][100]. However, some patients with BRCA mutations may be missed owing to undertesting; in the USA, only 5.1% and 2.7% of eligible women (based on family history of BRCA mutation-associated cancers) reported uptake of genetic counseling and testing, respectively [101,102]. Eligibility for and uptake of BRCA testing varies among countries [103][104][105], and use of international testing criteria is not feasible for all countries owing to disparities in resources [106].…”

“…Eligibility for and uptake of BRCA testing varies among countries [103][104][105], and use of international testing criteria is not feasible for all countries owing to disparities in resources [106]. There are racial disparities in BRCA testing uptake [101,[107][108][109][110][111][112]. Testing rates also vary widely according to BC receptor subtype [104,[113][114][115][116][117][118].…”

Progress and prospects in research and clinical practice of hormone receptor-positive, HER-2-negative breast cancer with BRCA1/2 mutations

“…As genetic testing was not widely available worldwide prior to the last decade, most patients with BC without a family history have not been tested for BRCAm status [ 34 , 35 ]. Testing rates vary widely among different molecular subtypes of BC [ 36 , 37 ].…”

Paving a pathway for large-scale utilization of genomics in precision medicine and population health

“…This is especially true as we realize the growing list of genes that contribute to each disorder and how difficult, if not impossible, it is to differentiate between causal genes through clinical evaluation. Interestingly, an argument that has been made to justify testing only two genes rather than a panel is that primary care physicians (PCPs) may not have the expertise and time to handle the management of BRCA1 and BRCA2 let alone those related to other genes (Rajagopal et al, 2019). In my experience, few primary care physicians are prepared to manage any of these conditions if they do not have prior experience with them, and many have expressed concern about getting results from our population health sequencing programs.…”