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Let’s Discuss: Precision Public Health and the need for interventions to improve uptake of BRCA genetic testing among Black Women  

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Racial disparities in BRCA1/2 testing persists despite clinical availability of testing for the past 20 years. Black women with breast cancer are substantially less likely to undergo genetic testing for hereditary breast and ovarian cancer syndrome (HBOC) compared to White women with the disease.1-5 Black women are also more likely to develop early-age onset breast cancer and have a higher incidence of triple negative breast cancer (TNBC), an aggressive subtype that is associated with BRCA1 gene mutation.Furthermore, Black women have a 42% higher death rate from breast cancer compared to White women.7  Therefore, there is a critical need to identify Black women with a high mutation risk of developing breast and ovarian cancer and to support them in having genetic testing in order to promote risk-reduction and early detection.


However, in our recent study, Use of Cancer Genetics Services in African-American Young Breast Cancer Survivors3, we found that Black young breast cancer survivors (YBCS) were significantly less likely than White young breast cancer survivors (YBCS) to report having genetic counseling (28% vs. 37.2%, p=.005) and genetic testing (21% vs. 33.7%, p=≤.001), despite being diagnosed with early-age onset breast cancer at age ≤ 45 years. We also examined factors associated with testing among the Black YBCS and found that income, education, and lack of access to health care due to cost was associated with genetic counseling, while income was associated with having genetic testing.

Other recent studies by Armstrong, et al1, Jagsi et al2, Dean et al10 and McCarthy et al4 have documented racial disparities in BRCA testing and other high penetrance genetic testing, with Black and Hispanic women experiencing multiple barriers, lack of provider recommendation or discussion about genetic testing.


Precision Public Health

Dr. Muin Khoury’s recent post on Precision Public Health was enlightening. He presents a new concept of precision public health which is influenced by the precision medicine initiative. Dr. Khoury explains that the “ultimate goal of precision public health is to develop and implement health interventions that can benefit the right populations at the right time”. There is a clear focus on addressing determinants of health. He highlights the three essential elements of precision public health that focuses on: (1) using data “below the skin” (genomics, omics, and molecules) and “above the skin” (behavior, environment, place, policies) to investigate and gather more precise measurements of determinants of health and disease in specific populations; (2) we must use data for action, which according to Dr. Khoury can include treatments, prevention strategies, policies, and programs. The “precision” in action should be based on evidence from that specific population that can be tied to measurable outcomes. Action can also be multi-level and multi-sectoral; and (3) a focus on using precision public health is promoting health equity in order to reduce health disparities. This is an excellent framework that can be used to advance my work.


Next Steps

The current underutilization of genetic testing among Blacks and other minority women is a critical public health issue that requires precision public health interventions to address this current disparity so that all people can benefit from the advances in genetics. While women should have genetic testing at the time of diagnosis with breast and ovarian cancer, there is also a need to revisit genetic testing in community settings among women who are survivors of cancer and those with a family history that is indicative of a mutation risk.


There are existing innovative interventions to address breast cancer risk and genetic testing that includes the use of interactive computer game11; web-based decision support tools12, 13, 14 ; a website E-info gene15, a computer-based slide presentation to educate low-literacy populations16; systems-level using patient navigators17; and an intelligent tutorial system using avatars to educate women about breast cancer risk.18 There is a need to further develop or tailor an existing intervention to into precision intervention aimed at improving uptake of genetic testing for Black and Hispanic women and their at-risk  female relatives. This intervention must be multi-level in order to address patient, provider, and healthcare system access barriers experienced by this population. To ensure the success of this intervention it is vital to include the target population and community members in the entire process of intervention development to implementation.

In our recent publication Disparities in Cancer Risk Assessment and Testing- my colleague,  Dr. Meghan Underhill from Dana Farber Cancer Institute/Harvard Cancer Center and I provide a detail discussion of the factors associated with disparities in cancer risk assessment and genetic testing. We also highlight the role of nurses in advancing precision medicine. As an advanced public health nurse, I recognize the critical role of nurses in conducting cancer risk assessment, providing evidenced-based genetic counseling, and identifying individuals with hereditary cancer syndromes in order to implement earlier cancer screenings and to promote strategies to reduce risk and premature deaths from cancers.




1.            Armstrong J, Toscano M, Kotchko N, et al. Utilization and Outcomes of BRCA Genetic Testing and Counseling in a National Commercially Insured Population: The ABOUT Study. JAMA oncology. 2015;1(9):1251-1260.

2.            Jagsi R, Griffith KA, Kurian AW, et al. Concerns about cancer risk and experiences with genetic testing in a diverse population of patients with breast cancer. J Clin Oncol. 2015;33(14):1584-1591.

3.            Jones T, Lockhart JS, Mendelsohn-Victor KE, et al. Use of Cancer Genetics Services in African-American Young Breast Cancer Survivors. Am J Prev Med. 2016.

4.            McCarthy AM, Bristol M, Domchek SM, et al. Health Care Segregation, Physician Recommendation, and Racial Disparities in BRCA1/2 Testing Among Women With Breast Cancer. J Clin Oncol. 2016.

5.            Randall TC, Armstrong K. Health Care Disparities in Hereditary Ovarian Cancer: Are We Reaching the Underserved Population? Curr Treat Options Oncol. 2016;17(8):39.

6.            Daly B, Olopade OI. A perfect storm: How tumor biology, genomics, and health care delivery patterns collide to create a racial survival disparity in breast cancer and proposed interventions for change. CA Cancer J Clin. 2015;65(3):221-238.

7.            DeSantis CE, Siegel RL, Sauer AG, et al. Cancer statistics for African Americans, 2016: Progress and opportunities in reducing racial disparities. CA Cancer J Clin. 2016;66(4):290-308.

8.            Rebbeck TR. Precision prevention of cancer. Cancer Epidemiol Biomarkers Prev. 2014;23(12):2713-2715.

9.            Network NCC. Genetic-Familial High-Risk Assessment: Breast and Ovarian 2016.

10.         Dean M, Boland J, Yeager M, et al. Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2. GigaScience. 2015;4:50.

11.         Green MJ, Peterson SK, Baker MW, et al. Effect of a Computer-Based Decision Aid on Knowledge, Perceptions, and Intentions About Genetic Testing for Breast Cancer Susceptibility: A Randomized Controlled Trial. JAMA: Journal of the American Medical Association. 2004;292(4):442-452.

12.         Rapport F, Iredale R, Jones W, et al. Decision aids for familial breast cancer: exploring women's views using focus groups. Health Expect. 2006;9(3):232-244.

13.         Collins IM, Milne RL, Weideman PC, et al. Preventing breast and ovarian cancers in high-risk BRCA1 and BRCA2 mutation carriers. Med J Aust. 2013;199(10):680-683.

14.         Rupert DJ, Squiers LB, Renaud JM, et al. Communicating risk of hereditary breast and ovarian cancer with an interactive decision support tool. Patient Educ Couns. 2013;92(2):188-196.

15.         Albada A, van Dulmen S, Otten R, Bensing JM, Ausems MG. Development of E-info gene(ca): a website providing computer-tailored information and question prompt prior to breast cancer genetic counseling. J Genet Couns. 2009;18(4):326-338.

16.         Joseph G, Beattie MS, Lee R, et al. Pre-counseling education for low literacy women at risk of hereditary breast and ovarian cancer (HBOC): Patient experiences using the Cancer Risk Education Intervention Tool (CREdIT). Journal of Genetic Counseling. 2010;19(5):447-462.

17.         Mays D, Sharff M, DeMarco T, et al. Outcomes of a systems-level intervention offering breast cancer risk assessments to low-income underserved women. Fam Cancer. 2012;11(3):493.

18.         Cedillos-Whynott EM, Wolfe CR, Widmer CL, Brust-Renck PG, Weil A, Reyna VF. The effectiveness of argumentation in tutorial dialogues with an Intelligent Tutoring System for genetic risk of breast cancer. Behav Res Methods. 2016;48(3):857-868.