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. 2021 Jan;36(1):35-42.
doi: 10.1007/s11606-020-06064-x. Epub 2020 Jul 27.

Racial and Ethnic Disparities in Genetic Testing at a Hereditary Breast and Ovarian Cancer Center

Eloise Chapman-Davis  1 , Zhen Ni Zhou  2 , Jessica C Fields  2 , Melissa K Frey  2 , Bailey Jordan  2 , Katherine J Sapra  2 , Sudeshna Chatterjee-Paer  2 , Ann D Carlson  3 , Kevin M Holcomb  2
Affiliations

Racial and Ethnic Disparities in Genetic Testing at a Hereditary Breast and Ovarian Cancer Center

Eloise Chapman-Davis et al. J Gen Intern Med. 2021 Jan.

Abstract

Background: Prior studies suggest that referral to genetic counseling and completion of genetic testing vary by race/ethnicity; however, the data are limited.

Objective: We sought to evaluate patterns of genetic testing and clinical outcomes across race/ethnicity at a hereditary breast and ovarian cancer center.

Design: The medical records for all patients undergoing genetic assessment at a hereditary breast and ovarian cancer center were reviewed and stratified by self-reported race/ethnicity (non-Hispanic White, Hispanic, non-Hispanic Black, and Asian).

Participants: A total of 1666 patients met inclusion criteria (non-Hispanic Whites, 1367; Hispanics, 85, non-Hispanic Blacks, 101; Asians, 113).

Main measures: Demographics, patient characteristics, and referral patterns for patients who underwent genetic testing were analyzed using Kruskal-Wallis tests, chi-square test, or Fisher's exact tests, stratifying by self-reported race/ethnicity. Pathogenic mutations and variants of unknown significance (VUS) were reviewed. Outcomes of patients with genetic mutations and personal history of breast and/or gynecologic malignancies were compared.

Key results: Non-Hispanic Whites were more likely to be referred due to family cancer history compared to all other ethnicities while Non-Hispanic Blacks, Hispanics, and Asians were more likely to be referred due to personal history of cancer (p < 0.001). Non-Hispanic Blacks and Hispanics were more likely to have advanced-stage cancer at the time of genetic testing (p < 0.02). Rates of mutations did not differ by race/ethnicity when Ashkenazi Jewish patients were excluded (p = 0.08). Among patients found to have a BRCA1/2 mutation, Non-Hispanic Whites were more likely to undergo cancer screening and risk-reducing surgery compared with all other ethnicities (p = 0.04).

Conclusions: Minority patients were more likely to utilize genetic services following a cancer diagnosis and less likely due to family cancer history, suggesting a missed opportunity for mutation detection and cancer prevention in this population. Efforts to eradicate racial/ethnic disparities in early access to genetic testing and guided cancer prevention strategies are essential.

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Conflict of interest statement

The authors declare that they do not have a conflict of interest.

Figures

Figure 1
Figure 1
Ancestry by race/ethnicity among patients undergoing genetic testing.
Figure 2
Figure 2
Genetic testing results by race/ethnicity.
See this image and copyright information in PMC

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