Trends in BRCA Test Utilization in an Integrated Health System, 2005–2015

Abstract

Background Genetic testing to determine BRCA status has been available for over two decades, but there are few population-based studies of test diffusion. We report 10-year trends in BRCAtesting in an integrated health-care system with long-standing access to genetic services. Methods A cohort of women aged 18 years and older was created to ascertain BRCA testing (n = 295 087). Annual testing rates between 2005 and 2015 were calculated in all women with and without incident (ie, newly diagnosed) breast and ovarian cancers and in clinically eligible subgroups by family cancer history, personal cancer history, and age at diagnosis. Secular trends were assessed using Poisson regression. Women tested early (2005–2008), midway (2009–2012), and late (2013–2015) in the study period were compared in cross-sectional analyses. Results Between 2005 and 2015, annual testing rates increased from 0.6/1000 person-years (pys) (95% confidence interval [CI] = 0.4 to 0.7/1000 pys) to 0.8/1000 pys (95% CI = 0.6 to 1.0/1000 pys) in women without incident breast or ovarian cancers. Rates decreased from 71.5/1000 pys (95% CI = 42.4 to 120.8/1000 pys) to 44.4/1000 pys (95% CI = 35.5 to 55.6/1000 pys) in women with incident diagnoses, despite improvements in provision of timely BRCA testing during this time frame. We found no evidence of secular trends in clinically eligible subgroups including women with family history indicating increased hereditary cancer risk, but no personal cancer history. At the end of the study period, 97.0% (95% CI = 96.6% to 97.3%) of these women remained untested. Conclusion Many eligible women did not receive BRCA testing despite having insurance coverage and access to specialty genetic services, underscoring challenges to primary and secondary hereditary cancer prevention.

The Screen Project: Guided Direct-To-Consumer Genetic Testing for Breast Cancer Susceptibility in Canada

“…We did not ask about income (because of privacy issues) and it is possible that for some women, the lack of resources was an impediment to testing. Similar patterns of testing uptake have been seen in populations where testing is covered by insurance [ 22 ]. Although most tested individuals were white, all major ethnic groups were represented, including French-Canadians, East Asian, South Asian, indigenous, African and Hispanic among tested individuals.…”

BRCA1/2mutation status in patients with metachronous breast and ovarian malignancies: clues towards the implementation of genetic counseling

“…Refusal of testing can be at least in part attributed to the lack of insurance coverage. However, Knerr et al [31] reported an underutilization of BRCA1/2 testing even in an integrated health system offering adequate coverage of genetic services. The question as to whether psychological reasons could be at work in explaining this phenomenon remains open and warrants further scrutiny.…”

Communication about breast cancer genetic counseling with patients with limited health literacy or a migrant background: evaluation of a training program for healthcare professionals

“…Healthcare professionals (surgical oncologists, medical oncologists, and specialized nurses) should identify patients at risk of carrying a variant in a breast cancer gene (e.g., BRCA1, BRCA2, CHEK2, PALB2, ATM genes), inform them about genetic testing, refer them for genetic counseling, or request a test themselves. Yet, despite the fact that genetic testing has been available for over two decades, many eligible women do not receive BRCA testing (Knerr et al 2019) and for certain groups of patients, the substantial underutilization of genetic testing is even larger (Cohen et al 2019). Previous research has shown that there is unequal access to cancer genetic testing for patients with lower educational levels and those with a migrant background (van Riel et al 2012;Kurian et al 2017;Delikurt et al 2015;McCarthy et al 2016;van der Giessen et al 2017).…”