25 Evaluating the Impact of In-Office Genetic Testing on Uptake and Equity in Breast Cancer Patients: A Retrospective Cohort Study

Background

Genetic testing is recommended for all individuals with a personal history of breast cancer per American Society of Breast Surgeons (ASBrS) guidelines. Despite these recommendations, uptake remains suboptimal nationwide, with well-documented disparities among Black, Hispanic/Latina, and Asian patients. Referral-based genetic testing models often introduce logistical barriers, delays, and loss to follow-up, which may disproportionately affect historically underserved populations. In-office (point-of-care) genetic testing has emerged as a potential strategy to improve access and increase completion rates, thereby bridging this health equity gap. We evaluated the impact of implementing in-office genetic testing in a diverse hospital-based breast oncology practice.

Methods

We conducted a retrospective cohort study comparing 2 care delivery periods: a pre-intervention period (October 2021-September 2023) during which genetic testing was referral based, and a postintervention period (October 2023-December 2025) during which genetic testing was offered in-office during routine breast oncology visits at a high-volume breast oncology practice. Eligible patients included all individuals with a personal history of breast cancer per ASBrS criteria for genetic testing. Data were stratified by self-reported race and ethnicity. We evaluated the completion of genetic testing, completion of genetic counseling, time from eligibility to receipt of genetic test results, and identification of pathogenic or likely pathogenic variants.

Results

Between 2021 and 2025, 738 patients met criteria for genetic testing (Table). Implementation of in-office genetic testing was associated with an increase in genetic counseling when compared with the referral-based model (preintervention vs post intervention: 31.3% vs 45.2%). Genetic counseling increased across all racial groups with the introduction of in-office genetic testing with White patients (29.9% to 49.0%) vs minority patients (32.5% to 41.1%). Moreover, the mean age of genetic testing decreased from 55.6 to 48.4 years.

Conclusion

Integrating genetic testing into routine breast oncology care represents an effective approach to improving guideline-concordant testing and reducing barriers inherent to referral-based models. By minimizing structural obstacles such as additional appointments, transportation challenges, and scheduling delays, in-office genetic testing has the potential to meaningfully advance health equity in breast cancer care. This model may help narrow persistent racial and ethnic disparities in access to precision oncology and should be considered a scalable strategy for equitable implementation of genetic testing across diverse clinical settings.