Despite increases in BRCA mutation testing, racial/ethnic disparities in counseling and testing have persisted for decades. The purpose of the review was to summarize recent literature as it relates to detecting, understanding, and reducing disparities in BRCA counseling and testing.
This is a narrative review of articles published January 2012 to July 2017 relevant to genetic testing and counseling, breast and ovarian cancer, and minority health and heath disparities. Twenty-three articles were included in this review.
Studies report lower counseling and/or testing rates for eligible racial/ethnic minorities among family members of high-risk individuals as well as among breast cancer survivors. Key barriers and facilitators of disparate BRCA counseling/testing that emerged in this review included awareness, cost-related factors, stress and distrust, family concerns and communication, and provider communication and referral. To address differential access to and use of BRCA testing services and expand testing in minority populations, it is necessary for interventions to focus on improving awareness, risk-perception, and family and patient-provider communication.
Multi-level and targeted interventions are needed to reduce persistent racial/ethnic disparities and improve assessment, provider recommendations, counseling and testing among minority populations.
This is a preview of subscription content, log in to check access.
Buy single article
Instant access to the full article PDF.
Tax calculation will be finalised during checkout.
Subscribe to journal
Immediate online access to all issues from 2019. Subscription will auto renew annually.
Tax calculation will be finalised during checkout.
Kobayashi H, Ohno S, Sasaki Y, Matsuura M. Hereditary breast and ovarian cancer susceptibility genes (review). Oncol Rep. 2013;30(3):1019–29.
Lynch J, Venne V, Berse B. Genetic tests to identify risk for breast cancer. Semin Oncol Nurs. 2015;31(2):100–7.
Ramus SJ, Gayther SA. The contribution of BRCA1 and BRCA2 to ovarian cancer. Mol Oncol. 2009;3(2):138–50.
Lu KH, Wood ME, Daniels M, Burke C, Ford J, Kauff ND, et al. American Society of Clinical Oncology expert statement: collection and use of a cancer family history for oncology providers. J Clin Oncol. 2014;32:833–40.
Daly MB, Pilarski R, Berry M, Buys SS, Farmer M, Friedman S, et al. NCCN guidelines insights: genetic/familial high-risk assessment: breast and ovarian, version 2.2017. J Natl Compr Cancer Netw. 2017;15(1):9–20.
U.S. Preventive Services Task Force. Final recommendation statement: BRCA-related Cancer: risk assessment, Genetic Counseling, and Genetic Testing. December 2013. https://www.uspreventiveservicestaskforce.org/Page/Document/RecommendationStatementFinal/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing Accessed 24 May 2018.
U.S. Preventive Services Task Force. Evidence summary: BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing August 2016. https://www.uspreventiveservicestaskforce.org/Page/SupportingDoc/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing/evidence-summary17 Accessed 14 Aug 2018.
Guo F, Hirth JM, Lin Y, Richardson G, Levine L, Berenson AB, et al. Use of BRCA mutation test in the US., 2004-2014. Am J Prev Med. 2017;52(6):702–9.
Levy DE, Byfield SD, Comstock CB, Garber JE, Syngal S, Crown WH, et al. Underutilization of BRCA 1/2 testing to guide breast cancer treatment: black and Hispanic women particularity at risk. Genet Med. 2011;13(4):349–55.
Wright JD, Chen L, Tergas AI, Accordino M, Ananth CV, Neugut AI, et al. Underuse of BRCA testing in patients with breast and ovarian cancer. Am J Obstet Gynecol. 2016;214(6):761–3.
Bellcross CA, Leadbetter S, Alford SH, Peipins LA. Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral. Cancer Epidemiol Biomark Prev. 2013;22(4):728–35.
Bellcross CA, Peipins LA, McCarty FA, et al. Characteristics associated with genetic counseling referral and BRCA 1/2 testing among women in a large integrated health system. Genet Med. 2015;17(1):43–50.
Armstrong K, Micco E, Carney A, et al. Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. JAMA. 2005;293(14):1729–36.
Armstrong K, Weber B, Stopfer J, Calzone K, Putt M, Coyne J, et al. Early use of clinical BRCA1/2 testing: associations with race and breast cancer risk. Am J Med Genet. 2003;117A(2):154–60.
Hall M, Olufunmilayo O. Confronting genetic testing disparities: knowledge is power. JAMA. 2005;293(14):1783–5.
Hall M, Olufunmilayo O. Disparities in genetic testing: thinking outside the BRCA box. J Clin Oncol. 2006;24(14):2197–203.
Kilbourne A, Switzer G, Hyman K, et al. Advancing health disparities research within the health care system: a conceptual framework. Am J Public Health. 2006;96(12):2113–21.
Butrick M, Kelly S, Peshkin B, et al. Uptake of BRCA1/2 genetic testing in a randomized trial of telephone counseling. Genet Med. 2015;17(6):467–75.
Fehniger J, Lin F, Beattie M, et al. Family communication of BRCA1/2 results and family uptake of BRCA1/2 testing in a diverse population of BRCA1/2 carriers. J Genet Counsel. 2013;22:603–12.
Sheppard V, Mays D, LaVeist T, Tercyak K. Medical mistrust and self-efficacy influence black Women’s level of engagement in BRCA1/2 genetic counseling and testing. J Natl Med Assoc. 2013;105(1):17–22.
Cragun D, Weidner A, Lewis C, Bonner D, Kim J, Vadaparampil ST, et al. Racial disparities in BRCA testing and Cancer risk management across a population-based sample of young breast Cancer survivors. Cancer. 2017;123(13):2497–505.
Dean M, Boland J, Yeager M, Im KM, Garland L, Rodriguez-Herrera M, et al. Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2. GigaScience. 2015;4:50.
Halbert CH, Kessler L, Collier A, Weathers B, Stopfer J, Domchek S, et al. Low rates of African American participation in genetic counseling and testing for BRCA1/2 mutations: racial disparities or just a difference? J Genet Couns. 2012;21(5):676–83.
Cragun D, Bonner D, Kim J, Akbari MR, Narod SA, Gomez-Fuego A, et al. Factors associated with genetic counseling and BRCA testing in a population-based sample of young black women with breast cancer. Breast Cancer Res Treat. 2015;151(1):169–76.
Thompson HS, Sussner K, Schwartz M, et al. Receipt of Genetiic counseling recommendations among black women at high risk for BRCA mutations. Genet Test Mol Biomarkers. 2012;16(11):1257–62.
MacDonald D, Deri J, Ricker C, et al. Closing the loop: an interactive action-research conference format for delivering updated medical information while eliciting Latina patient/family experiences and psychosocial needs post-genetic cancer risk assessment. Familial Cancer. 2012;11(3):449–58.
Adams I, Christopher J, Williams K, Sheppard V. What black women know and want to know about counseling and testing for BRCA1/2. J Cancer Educ. 2015;30(2):344–52.
Sussner K, Jandorf L, Thompson H, Valdimarsdottir H. Barriers and facilitators to BRCA genetic counseling among at-risk Latinas in new York City. Psychooncology. 2013;22(7):1594–604.
Sussner K, Edwards T, Villagra C, et al. BRCA genetic counseling among at-risk Latinas in new York City: new beliefs shape new generation. J Genet Couns. 2015;24(1):134–48.
Traxler LB, Martin ML, Kerber AS, et al. Implementing a screening tool for identifying patients at risk for hereditary breast and ovarian Cancer: a statewide initiative. Ann Surg Oncol. 2014;21(10):3342–7.
Pal T, Bonner D, Kim J, Monteiro ANA, Kessler L, Royer R, et al. Early onset breast Cancer in a registry-based sample of African-American women: BRCA mutation prevalence, and other personal and system-level clinical characteristics. Breast J. 2013;19(2):189–92.
Churpek J, Walsh T, Zheng Y, et al. Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat. 2015;149:31–9.
Sharma P, Klemp J, Kimler B, et al. Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing. Breast Cancer Res Treat. 2014;145(3):707–14.
Lynce F, Smith KL, Stein J, DeMarco T, Wang Y, Wang H, et al. Deleterious BRCA1/2 mutations in an urban population of black women. Breast Cancer Res Treat. 2015;153:201–9.
Chen Z, Kolor K, Grosse SD, et al. Trends in utilization and costs of BRCA testing among women aged 18–64 years in the United States, 2003–2014. Genet Med. 2018;20(4):428–34.
Whitworth P, Beitsch P, Arnell C, et al. Impact of payer constraints on access to genetic testing. J Oncol Pract. 2017;13(1):47–56.
Chun D, Berse B, Venne V, et al. BRCA testing within the Department of Veterans Affairs: concordance with clinical practice guidelines. Familial Cancer. 2017;16:41–9.
Armstrong J, Toscano M, Kotchko N, Friedman S, Schwartz MD, Virgo KS, et al. Utilization and outcomes of BRCA testing and counseling in a National Commercially Insured Population the ABOUT study. JAMA Oncol. 2015;1(9):1251–60.
Cukier Y, Thompson H, Sussner K, et al. Factors associated with Phycological distress among women of African descent at high risk for BRCA mutations. J Genet Counsel. 2013;22:101–7.
Jacobs A, Schwartz M, Valdimarsdottir H, et al. Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian Cancer. Familial Cancer. 2016;15(4):529–39.
Joseph G, Kaplan C, Luce J, Lee R, Stewart S, Guerra C, et al. Efficient identification and referral of low-income women at high risk for hereditary breast Cancer: a practice-based approach. Public Health Genomics. 2012;15:172–80.
Randall TC, Armstrong K. Health care disparities in hereditary ovarian Cancer: are W reaching the underserved population? Curr Treat Options in Oncol. 2016;17(8):39.
Schwartz MD, Lerman C, Brogran B, et al. Utilization of BRCA1/BRCA2 mutation testing in newly diagnosed breast cancer patients. Cancer Epidemiol Biomark Prev. 2005;14(4):1003–7.
Stuckey A, Febbraro T, Laprise J, Wilbur JS, Lopes V, Robison K. Adherence patterns to National Comprehensive Cancer Network Guidelines for referral of women with breast Cancer to genetics professionals. Am J Clin Oncol. 2016;39(4):363–7.
This article does not contain any studies with human participants performed by any of the authors.
Conflicts of Interest
The authors declare that they have no conflicts of interest.
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
About this article
Cite this article
Williams, C.D., Bullard, A.J., O’Leary, M. et al. Racial/Ethnic Disparities in BRCA Counseling and Testing: a Narrative Review. J. Racial and Ethnic Health Disparities 6, 570–583 (2019). https://doi.org/10.1007/s40615-018-00556-7
- Breast cancer
- Health care disparities
- Hereditary cancer syndrome
- Genetic testing
- Genetic counseling