Nationwide Trends and Determinants of Germline BRCA1/2 Testing in Patients With Breast and Ovarian Cancer

Abstract

Background: Germline genetic testing (GT) for BRCA1/2 is instrumental in identifying patients with breast and ovarian cancers who are eligible for PARP inhibitors (PARPi). Little is known about recent trends and determinants of GT since PARPi were approved for these patients. Patients and Methods: We performed a retrospective cohort study of patients in a nationwide electronic health record (EHR)–derived oncology-specific database with the following GT eligibility criteria: breast cancer diagnosed at age ≤45 years, triple-negative breast cancer diagnosed at age ≤60 years, male breast cancer, or ovarian cancer. GT within 1 year of diagnosis was assessed and stratified by tumor type. Multivariable log-binomial regressions estimated adjusted relative risks (RRs) of GT by patient and tumor characteristics. Results: Among 2,982 eligible patients with breast cancer, 56.4% underwent GT between January 2011 and March 2020, with a significant increase in GT over time (RR, 1.08; 95% CI, 1.05–1.11, for each year), independent of when PARPi were approved for BRCA1/2-mutated metastatic breast cancer in January 2018. In multivariable analyses, older age (RR, 0.93; 95% CI, 0.90–0.96, for every 5 years) and Medicare coverage (RR, 0.69; 95% CI, 0.49–0.96 vs commercial insurance) were associated with less GT. Among 5,563 eligible patients with ovarian cancer, 35.4% underwent GT between January 2011 and March 2020, with a significant increase in GT over time (RR, 1.11; 95% CI, 1.07–1.14, for each year) that accelerated after approval of PARPi for BRCA1/2-mutated, chemotherapy-refractory ovarian cancer in December 2014 (RR, 1.42; 95% CI, 1.19–1.70). Older age (RR, 0.95; 95% CI, 0.93–0.97, for every 5 years) and Black or African American race (RR, 0.80; 95% CI, 0.65–0.98 vs White race) were associated with less GT. Conclusions: GT remains underutilized nationwide among patients with breast and ovarian cancers. Although GT has increased over time, significant disparities by age, race, and insurance status persist. Additional work is needed to design, implement, and evaluate strategies to ensure that all eligible patients receive GT.

Protocol to evaluate sequential electronic health record-based strategies to increase genetic testing for breast and ovarian cancer risk across diverse patient populations in gynecology practices

“…Moreover, substantial health inequities exist in testing rates. Eligible Black women are much less likely to be tested than their non-Hispanic white counterparts [ 11 , 25 – 28 ], a finding replicated in the analysis of our own data, even with similar referral rates for all patients meeting our eligibility criteria.…”

Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022

“…Previous studies have been hampered by small sample sizes. 15,16,[23][24][25][26][27][28][29][30][31][32][33][34] Other studies have focused on a limited set of genes, such as BRCA1 and BRCA2, 25,26,35 although there are an array of high-and moderate-risk hereditary cancer genes for which clinical management strategies have been developed. [36][37][38] Lack of sufficient data from AA/B individuals for genes such as ATM, CHEK2, and PALB2 may impair risk estimation, genetic counseling, and use of precision medicine approaches.…”

Casting a Wide Net While Building a Safety Net: Addressing Disparities in Genetic Testing for Hereditary Cancer

“…What do we know about disparities in genetic testing? Among the factors associated with a lower rate of genetic testing are Medicare and/or Medicaid insurance, [1][2][3] older age, 1,3-5 and Spanish-speaking versus English-speaking. 2 When examining disparities based on race or ethnicity, Lau-Min et al found that Black race was associated with a lower rate of genetic testing compared with White race, a gap that has been previously reported.…”