Disparities in genetic testing among high risk breast cancer patients

The Tyrer-Cuzick (TC) score estimates both the 10-year and lifetime risk of breast cancer in women undergoing screening mammograms. A TC lifetime risk score of ≥20% classifies a patient as high- risk, qualifying them for referral to a high-risk breast cancer clinic for additional recommendations beyond annual screening mammography. These recommendations may include annual breast MRI, risk reduction strategies, and genetic counseling. Genetic counseling plays a crucial role in identifying cancer risk and guiding prophylactic measures. While prior studies have established that certain pathogenic mutations vary by race and ethnicity in patients with diagnosed breast cancer, few have examined trends and characteristics among high-risk individuals before diagnosis. We hypothesize that patterns may exist among race, breast imaging findings, and genetic testing results within this high-risk population.

We created a 6-month database (07/01/2022-12/31/2022) of women at high risk for breast cancer across a single health system with a diverse patient population. Data collected included self- identified race, TC score, mammography and MRI imaging findings, and genetic testing. Stratification analysis was performed using SAS Software 9.4.

A total of 496 women were included, with a mean age of 47 years and a mean TC score of 23%. More White women than Black women attended genetic appointments (45.4% vs. 34.5%, p=0.0293).

Among patients with genetic mutations, 80% of Black women had a genetics appointment compared to 95% of White women (p=0.0288), while no racial difference was observed among those without mutations (p=0.6676). Mammography and MRI findings did not significantly differ between patients with and without genetic mutations (p=0.4634; p=0.3791).

These findings reveal significant disparities in genetic counseling and testing between White and Black women in a high-risk breast cancer clinic. White women were more likely to attend genetics appointments and undergo testing, yet Black women had a higher proportion of genetic mutations among those tested. These results emphasize the critical role of high-risk breast cancer clinics in patient education and risk reduction while highlighting the urgent need for equitable access to genetic counseling and testing. Addressing these disparities requires targeted outreach and improved referral processes to ensure all high-risk patients receive timely and appropriate care. Further research with a larger dataset and extended follow-up is necessary to better understand the underlying factors contributing to these these disparities and develop effective strategies for reducing them.