Improving genetics equity: identifying women eligible for genetic care services using mammography clinics in underserved areas as screening hubs

TL;DR

This study used mammography clinics in underserved areas to identify women eligible for genetic testing for hereditary breast and ovarian cancer, finding that support and language resources helped overcome some barriers.

Contribution

The study introduces a novel approach to increase genetic testing access in underserved communities through targeted screening and multilingual support.

Findings

30.1% of participants were uninsured, and 150 (30%) were identified as eligible for genetic testing.

Only 9.9% of eligible women completed genetic testing, with no significant differences by Hispanic ethnicity, income, or insurance status.

One pathogenic variant in NF1 and two variants of uncertain significance were identified among those who completed testing.

Abstract

Fewer than 20% of underserved individuals undergo guideline-concordant hereditary breast and ovarian cancer (HBOC) genetic testing (GT). Our study aimed to determine the proportion of women eligible for HBOC GT using a cancer genetics risk assessment (CGRA) tool at breast cancer (BC) screening clinics in underserved communities and to describe the program’s impact.

Participants were women who presented for BC screening at The Rose clinics, serving low-income underserved communities in southeast Texas, and completed the CGRA. High-risk individuals received bilingual educational materials and a saliva-based GT kit. Those with a pathogenic variant (PV) or a variant of uncertain significance (VUS) received telegenetic counseling and risk reduction resources.

A total of 501 women completed the CGRA, with 30.1% uninsured. 150 women were identified as eligible for GT, but only 14 (9.9%) completed GT (11 negative, 2 VUS, 1 PV in NF1). GT completion was significantly associated with being White, Native American/Alaskan Native, and Ashkenazi Jewish (P < .05). Hispanic, low-income, and uninsured individuals, or those with fewer relatives with cancer, were as likely to complete GT as others.

We successfully identified underserved women at high risk of HBOC using CGRA, but the GT completion rate was low. However, the completion rate did not differ by Hispanic ethnicity, income, or insurance status, suggesting that financial navigation by our study coordinator, support from Spanish-language staff at The Rose clinics, and the use of Spanish-language educational materials and translation may have helped overcome some barriers.

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