Guideline concordance of BRCA1/2 testing in The Health of Women Study

Authors: Roberts M, Klein W, Samimi G, Minasian L, Loud J, Silver MI

Category: Early Detection & Risk Prediction, Behavioral Science & Health Communication
Conference Year: 2018

Abstract Body:
Purpose: To evaluate factors associated with compliance to National Comprehensive Cancer Network (NCCN) guidelines for BRCA1/2 testing and identify patient groups who are at higher risk of under- and over-use of BRCA1/2 testing. Methods: This analysis leverages a large dataset of individuals with and without breast cancer from Dr. Susan Love Research Foundation’s The Health of Women StudyTM. We included data from women (18+ years) who completed the basic health overview and the personal and family health history surveys (n=22,410). Multinomial logistic regression was used to examine the association of clinical, socioeconomic, and demographic characteristics with whether the woman was over-, under-, or appropriately tested for BRCA1/2 mutations, per NCCN guidelines. Results: 4,326 women (19.5%) reported being tested for BRCA1/2. Of those, 3,112 (71.9%) were categorized as appropriately tested and 1,214 (28.1%) were categorized as over-tested based on the 2016 NCCN guidelines. 15,466 (69.8%) women were appropriately not tested for BRCA1/2, and 2,383 (10.8%) women who met NCCN criteria for testing were not tested. Those who were guideline-discordant were twice as likely to be under-tested than over-tested. Those with Medicaid were more likely to be under-tested (OR: 2.02, 95% CI: 1.47-2.78) than those with a managed care insurance plan, and higher education was associated with a lower likelihood of under-testing (4-year college degree OR: 0.73, 95% CI: 0.60-0.89; Graduate/ professional degree OR: 0.65, 95% CI: 0.54-0.79). Conclusion: Appropriate testing is necessary for accurate risk assessment, which is critical for guiding screening, prevention, and treatment decisions. Among this highly motivated population of women, approximately 80% were guideline-concordant with BRCA1/2 testing, but twice as many women were under- tested than over-tested, indicating that many high-risk women who may benefit from genetic testing are currently being missed. Without appropriate testing, providers are unable to tailor screening recommendations to those women carrying mutations who are at highest risk. Patient and healthcare provider education and outreach targeted to low income and under-served populations may assist in reducing under-testing.

Keywords: BRCA1/2 testing; guideline concordance; over-testing; under-testing