Disparities in Genetic Management of Breast and Ovarian Cancer Patients

Abstract

Importance: Hereditary breast and ovarian cancer syndrome (HBOC) ismost often caused by pathogenic variants in the BRCA1 or BRCA2 genes. Guidelines exist for genetic testing in patients at high risk, yet significant disparities in genetic testing and management remain. These disparities result inmissed opportunities for cancer prevention and treatment.

Objective: This review details the multiple layers of disparities in genomic knowledge, testing referral, completion, and posttesting risk reduction for at-risk populations.

Evidence Acquisition: A comprehensive search of the PubMed database was conducted in September 2023 for studies addressing disparities at all points of HBOC risk assessment and risk reduction.

Results: Disparities in genomic knowledge, referral and testing, and in cancer risk reduction exist by race, ethnicity, insurance status, socioeconomic status, age, and care setting in the United States. Many mitigation strategies have been explored with some success.

Conclusion: Each component contributes to a “leaky pipe” in BRCA testing and management whereby patients eligible for intervention trickle out of the pipe due to inequities at each step. Implementation of proven strategies aimed at disparity reduction in this setting is essential, as well as additional strategy development.

Relevance: This review provides clinicians with a comprehensive understanding of disparities in the identification and management of individuals at risk for or diagnosed with HBOC and strategies to reduce disparities in their own practice.

Target Audience: Obstetricians and gynecologists, family physicians.

Learning Objectives: After participating in this activity, the learners should be better able to discuss disparities in the testing for and risk-reducing management of patients with pathogenic variants of BRCA1/2; describe populations in which these disparities are greatest; and explain proven strategies for practice change to mitigatethese disparities.