Journal of Community Genetics

, Volume 10, Issue 1, pp 35–39 | Cite as

Inequities in genetic testing for hereditary breast cancer: implications for public health practice

  • Ambreen SayaniEmail author


The Ontario Breast Screening Program for women with a genetic predisposition to breast cancer is one of the first international models of a government-funded public health service that offers systematic genetic screening to women at a high risk of breast cancer. However, since the implementation of the program in 2011, enrolment rates have been lower than anticipated. Whilst there may be several reasons for this to happen, it does call into consideration the ‘inverse equity law’, whereby the more advantaged in society are the first to participate and benefit from universal health services. An outcome of this phenomenon is an increase in the health divide between those that are at a social advantage versus those that are not. Using an intersectionality lens, this paper explores the role of the social determinants of health and social identity in creating possible barriers in the access to genetic screening for hereditary breast cancer, and the implications for public health practice in recognising and ameliorating these differences.


Genetic testing Social determinants of health Hereditary breast cancer Breast cancer BRCA Equity Disparity Social justice Intersectionality Social location Public health 


Compliance with ethical standards

Conflict of interest

The author declares that she has no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.


  1. Allin S (2008) Does equity in healthcare use vary across Canadian provinces? Healthc Policy 3(4):83–99Google Scholar
  2. Armstrong K, Weber B, Stopfer J, Calzone K, Putt M, Coyne J, Schwartz JS (2003) Early use of clinical BRCA1/2 testing: associations with race and breast cancer risk. Am J Med Genet A 117A(2):154–160. CrossRefGoogle Scholar
  3. Armstrong K, Micco E, Carney A, Stopfer J, Putt M (2005) Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. JAMA 293(14):1729–1736. CrossRefGoogle Scholar
  4. Auditor General of Ontario (2012) Cancer screening programs 3.01Google Scholar
  5. Berliner JL, Fay AM, Cummings SA, Burnett B, Tillmanns T (2013) NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns 22(2):155–163. CrossRefGoogle Scholar
  6. Burke W, Daly M, Garber J, Botkin J, Kahn MJ, Lynch P, McTiernan A, Offit K, Perlman J, Petersen G, Thomson E, Varricchio C (1997) Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA 277(12):997–1003CrossRefGoogle Scholar
  7. Canadian Cancer Society’s Advisory Committee on Cancer and Statistics (2017) Canadian Cancer Statistics 2017. Retrieved from
  8. Cancer Care Ontario (2011) Ontario breast screening program: 2011 report. Cancer Care Ontario, TorontoGoogle Scholar
  9. Chalela P, Pagán JA, Su D, Muñoz E, Ramirez AG (2012) Breast cancer genetic testing awareness, attitudes and intentions of Latinas living along the US-Mexico border: a qualitative study. J Community Med Health Educ 2.
  10. Charles S, Kessler L, Stopfer JE, Domchek S, Halbert CH (2006) Satisfaction with genetic counseling for BRCA1 and BRCA2 mutations among African American women. Patient Educ Couns 63(1–2):196–204. CrossRefGoogle Scholar
  11. Chiarelli AM, Prummel MV, Muradali D, Majpruz V, Horgan M, Carroll JC et al (2014) Effectiveness of screening with annual magnetic resonance imaging and mammography: results of the initial screen from the Ontario High Risk Breast Screening Program. J Clin Oncol.
  12. Cragun D, Bonner D, Kim J, Akbari MR, Narod SA, Gomez-Fuego A, Garcia JD, Vadaparampil ST, Pal T (2015) Factors associated with genetic counseling and BRCA testing in a population-based sample of young Black women with breast cancer. Breast Cancer Res Treat 151(1):169–176. CrossRefGoogle Scholar
  13. d’Agincourt-Canning L (2001) Experiences of genetic risk: disclosure and the gendering of responsibility. Bioethics 15(3):231–247. CrossRefGoogle Scholar
  14. D’Andrea E, Marzuillo C, Vito CD, Marco MD, Pitini E, Vacchio MR, Villari P (2016) Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations. Genet Med 18(12):1171–1180. CrossRefGoogle Scholar
  15. Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, Garber JE, Neuhausen SL, Matloff E, Eeles R, Pichert G, van t’veer L, Tung N, Weitzel JN, Couch FJ, Rubinstein WS, Ganz PA, Daly MB, Olopade OI, Tomlinson G, Schildkraut J, Blum JL, Rebbeck TR (2010) Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304(9):967–975. CrossRefGoogle Scholar
  16. Douglas E, Waller J, Duffy SW, Wardle J (2015) Socioeconomic inequalities in breast and cervical screening coverage in England: are we closing the gap? J Med Screen 23:98–103. CrossRefGoogle Scholar
  17. Edlich RF, Winters KL, Lin KY (2005) Breast cancer and ovarian cancer genetics. J Long-Term Eff Med Implants 15(5):533–545CrossRefGoogle Scholar
  18. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC (2002) Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol Off J Am Soc Clin Oncol 20(6):1480–1490. CrossRefGoogle Scholar
  19. Gilson L, Doherty J, Loewenson R, Francis V (2007) Challenging inequity through health systems. Final Report of the Knowledge Network on Health SystemsGoogle Scholar
  20. Hall M, Olopade OI (2005) Confronting genetic testing disparities: knowledge is power. JAMA 293(14):1783–1785. CrossRefGoogle Scholar
  21. Hall MJ, Olopade OI (2006) Disparities in genetic testing: thinking outside the BRCA box. J Clin Oncol Off J Am Soc Clin Oncol 24(14):2197–2203. CrossRefGoogle Scholar
  22. Hankivsky O, Reid C, Cormier R, Varcoe C, Clark N, Benoit C, Brotman S (2010) Exploring the promises of intersectionality for advancing women’s health research. Int J Equity Health 9:5. CrossRefGoogle Scholar
  23. Joseph G, Guerra C (2015) To worry or not to worry: breast cancer genetic counseling communication with low-income Latina immigrants. J Community Genet 6(1):63–76. CrossRefGoogle Scholar
  24. Kerner J, Liu J, Wang K, Fung S, Landry C, Lockwood G, Zitzelsberger L, Mai V (2015) Canadian cancer screening disparities: a recent historical perspective. Curr Oncol 22(2):156–163. CrossRefGoogle Scholar
  25. Kieran S, Loescher LJ, Lim KH (2007) The role of financial factors in acceptance of clinical BRCA genetic testing. Genet Test 11(1):101–110. CrossRefGoogle Scholar
  26. King M-C, Levy-Lahad E, Lahad A (2014) Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award. JAMA 312(11):1091–1092. CrossRefGoogle Scholar
  27. Lippi G, Mattiuzzi C, Montagnana M (2017) BRCA population screening for predicting breast cancer: for or against? Annal Transl Med 5(13).
  28. MacNew HG, Rudolph R, Brower ST, Beck AN, Meister EA (2010) Assessing the knowledge and attitudes regarding genetic testing for breast cancer risk in our region of southeastern Georgia. Breast J 16(2):189–192. CrossRefGoogle Scholar
  29. Maddison A (2011) Inequity in access to cancer care: a review of the Canadian literature. Cancer Causes Control 22(3):359–366CrossRefGoogle Scholar
  30. Mai PL, Vadaparampil ST, Breen N, McNeel TS, Wideroff L, Graubard BI (2014) Awareness of cancer susceptibility genetic testing: the 2000, 2005, and 2010 National Health Interview Surveys. Am J Prev Med 46(5):440–448. CrossRefGoogle Scholar
  31. McGibbon E, McPherson C (2011) Applying intersectionality & complexity theory to address the social determinants of women’s health. Retrieved from
  32. National Society of Genetic Counselors (2016) National Society of Genetic Counselors: Genetic Counseling Industry Statistics. Retrieved from
  33. Palmero EI, Ashton-Prolla P, da Rocha JCC, Vargas FR, Kalakun L, Blom MB, Azevedo SJ, Caleffi M, Giugliani R, Schüler-Faccini L (2007) Clinical characterization and risk profile of individuals seeking genetic counseling for hereditary breast cancer in Brazil. J Genet Couns 16(3):363–371. CrossRefGoogle Scholar
  34. Peterson EA, Milliron KJ, Lewis KE, Goold SD, Merajver SD (2002) Health insurance and discrimination concerns and BRCA1/2 testing in a clinic population. Cancer Epidemiol Biomark Prev 11(1):79–87Google Scholar
  35. Ramirez AG, Aparicio-Ting FE, de Majors SSM, Miller AR (2006) Interest, awareness, and perceptions of genetic testing among Hispanic family members of breast cancer survivors. Ethn Dis 16(2):398–403Google Scholar
  36. Raphael, D. (2016). Social determinants of health: Canadian perspectives. Canadian Scholars’ PressGoogle Scholar
  37. Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, Veer LV, Garber JE et al (2004) Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE study group. J Clin Oncol 22(6):1055–1062. CrossRefGoogle Scholar
  38. Surbone A (2011) Social and ethical implications of BRCA testing. Ann Oncol 22(suppl_1):i60–i66. CrossRefGoogle Scholar
  39. van der Groep P, van der Wall E, van Diest PJ (2011) Pathology of hereditary breast cancer. Cell Oncol (Dordr) 34(2):71–88. CrossRefGoogle Scholar
  40. Weldon SL (2006) The structure of intersectionality: a comparative politics of gender. Politics & Gender 2(2):235–248. CrossRefGoogle Scholar
  41. Whitehead M (1992) The concepts and principles of equity and health. Int J Health Serv 22(3):429–445CrossRefGoogle Scholar
  42. Young IM (2002) Lived body vs gender: reflections on social structure and subjectivity. Ratio 15(4):410–428. CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Faculty of Health, School of Health Policy and ManagementYork UniversityTorontoCanada
  2. 2.Li Ka Shing Knowledge Institute, St. Michael’s HospitalCentre for Urban Health SolutionsTorontoCanada

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