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.
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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Authors: Daniel Chavez-Yenter; Melody S Goodman; Yuyu Chen; Xiangying Chu; Richard L Bradshaw; Rachelle Lorenz Chambers; Priscilla A Chan; Brianne M Daly; Michael Flynn; Amanda Gammon; Rachel Hess; Cecelia Kessler; Wendy K Kohlmann; Devin M Mann; Rachel Monahan; Sara Peel; Kensaku Kawamoto; Guilherme Del Fiol; Meenakshi Sigireddi; Saundra S Buys; Ophira Ginsburg; Kimberly A Kaphingst Journal: JAMA Netw Open Date: 2022-10-03
Authors: Sarah M Lima; Meaghan Nazareth; Karen M Schmitt; Andria Reyes; Elaine Fleck; Gary K Schwartz; Mary Beth Terry; Grace C Hillyer Journal: J Community Genet Date: 2022-10-13
Authors: Ken Wiley; Laura Findley; Madison Goldrich; Tejinder K Rakhra-Burris; Ana Stevens; Pamela Williams; Carol J Bult; Rex Chisholm; Patricia Deverka; Geoffrey S Ginsburg; Eric D Green; Gail Jarvik; George A Mensah; Erin Ramos; Mary V Relling; Dan M Roden; Robb Rowley; Gil Alterovitz; Samuel Aronson; Lisa Bastarache; James J Cimino; Erin L Crowgey; Guilherme Del Fiol; Robert R Freimuth; Mark A Hoffman; Janina Jeff; Kevin Johnson; Kensaku Kawamoto; Subha Madhavan; Eneida A Mendonca; Lucila Ohno-Machado; Siddharth Pratap; Casey Overby Taylor; Marylyn D Ritchie; Nephi Walton; Chunhua Weng; Teresa Zayas-Cabán; Teri A Manolio; Marc S Williams Journal: J Am Med Inform Assoc Date: 2022-07-12 Impact factor: 7.942
Authors: Jenny Lin; Ravi N Sharaf; Rachel Saganty; Danyal Ahsan; Julia Feit; Andrea Khoury; Hannah Bergeron; Eloise Chapman-Davis; Evelyn Cantillo; Kevin Holcomb; Stephanie V Blank; Ying Liu; Charlene Thomas; Paul J Christos; Drew N Wright; Steven Lipkin; Kenneth Offit; Melissa K Frey Journal: Gynecol Oncol Date: 2021-05-19 Impact factor: 5.304
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