Abstract
Purpose
To evaluate factors associated with compliance to the National Comprehensive Cancer Network (NCCN) guidelines for BRCA1/2 testing and identify groups who are at risk of under- and over-use of BRCA1/2 testing.
Methods
Data included 20,758 women from Dr. Susan Love Research Foundation’s The Health of Women (HOW) Study®. Multinomial logistic regression was used to examine the association of socioeconomic and demographic characteristics with whether the woman was over-, under-, or appropriately tested for BRCA1/2 mutations, per 2015 NCCN guidelines.
Results
3894 women (18.8%) reported BRCA1/2 testing. 5628 (27.1%) women who met NCCN criteria for testing were not tested. Among women with a history of breast cancer, those without health insurance were more likely to be under-tested (OR 2.04, 95% CI 1.15–3.60) than those with managed care insurance, and higher education was associated with a lower likelihood of under-testing (Graduate/professional degree OR 0.71, 95% CI 0.55–0.91).
Conclusion
Almost 30% of women were under-tested, indicating that many high-risk women who may benefit from genetic testing are currently being missed. Without appropriate testing, providers are unable to tailor screening recommendations to those carrying mutations who are at highest risk. Patient and healthcare provider education and outreach targeted to low-income and under-served populations may assist in reducing under-testing.
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References
Howlader NNA, Krapcho M, Garshell J, Miller D, Altekruse SF, Kosary CL, Yu M, Ruhl J, Tatalovich Z, Mariotto A, Lewis DR, Chen HS, Feuer EJ, Cronin KA (2015) SEER cancer statistics review, 1975–2012, National Cancer Institute. Bethesda, MD, http://seer.cancer.gov/csr/1975_2012/, based on November 2014 SEER data submission, posted to the SEER web site, April 2015
Siu AL (2016) Screening for breast cancer: U.S. preventive services task force recommendation statementscreening for breast cancer. Ann Intern Med 164(4):279–296
Moyer VA (2014) Risk assessment, genetic counseling, and genetic testing for brca-related cancer in women: U.S. preventive services task force recommendation statement. Ann Intern Med 160(4):271–281
Bevers TB, Anderson BO, Bonaccio E, Buys S, Daly MB, Dempsey PJ, Farrar WB, Fleming I, Garber JE, Harris RE et al (2009) Breast cancer screening and diagnosis. J Natl Compr Cancer Netw 7(10):1060–1096
ACOG Practice Bulletin No (2009) 103: Hereditary breast and ovarian cancer syndrome. Obstet Gynecol 113(4):957–966
Szabo CIKM (1997) Population genetics of BRCA1 and BRCA2. Am J Hum Genet 60(5):1013–1020
Lee MV, Katabathina VS, Bowerson ML, Mityul MI, Shetty AS, Elsayes KM, Balachandran A, Bhosale PR, McCullough AE, Menias CO: BRCA-associated cancers: role of imaging in screening, diagnosis, and management. RadioGraphics 2017, 37(4):1005–1023
Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329–1333
Antoniou A, Pharoah PDP, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg Å et al (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72(5):1117–1130
version4.2013 Ng. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. 2013
Network NCC (2015) Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women. In: National Comprehensive Cancer Network, vol. 2
Anderson K, Jacobson JS, Heitjan DF, Zivin JG, Hershman D, Neugut AI, Grann VR (2006) Cost-effectiveness of preventive strategies for women with a BRCA1 or a BRCA2 mutation. Ann Intern Med 144(6):397–406
Force USPST (2005) Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med 143(5):355–361
Ozanne E, Cipriano L, Cameron M, Newman T, Esserman L (2009) Cost-effectiveness of genetic testing for BRCA1 and BRCA2 mutations. Can Res 69(2 Supplement):6100
Levy DE, Garber JE, Shields AE (2009) Guidelines for genetic risk assessment of hereditary breast and ovarian cancer: early disagreements and low utilization. J Gen Intern Med 24(7):822–828
Childers CP, Childers KK, Maggard-Gibbons M, Macinko J: National estimates of genetic testing in women with a history of breast or ovarian cancer. J Clin Oncol 2017, 35(34), 3800–3806
Armstrong J, Toscano M, Kotchko N, Friedman S, Schwartz MD, Virgo KS, Lynch K, Andrews JE, Aguado Loi CX, Bauer JE et al (2015) Utilization and outcomes of BRCA genetic testing and counseling in a national commercially insured population: the ABOUT study. JAMA Oncol 1(9):1251–1260
Weldon CB, Trosman JR, Gradishar WJ, Benson AB III, Schink JC (2012) Barriers to the use of personalized medicine in breast cancer. J Oncol Pract 8(4):e24–e31
Borzekowski DL, Guan Y, Smith KC, Erby LH, Roter DL (2014) The Angelina effect: immediate reach, grasp, and impact of going public. Genet Med 16(7):516–521
Juthe RH, Zaharchuk A, Wang C (2015) Celebrity disclosures and information seeking: the case of Angelina Jolie. Genet Med 17(7):545–553
Lebo PB, Quehenberger F, Kamolz LP, Lumenta DB (2015) The Angelina effect revisited: exploring a media-related impact on public awareness. Cancer 121(22):3959–3964
Noar SM, Althouse BM, Ayers JW, Francis DB, Ribisl KM (2015) Cancer information seeking in the digital age: effects of Angelina Jolie’s prophylactic mastectomy announcement. Med Decis Mak 35(1):16–21
Evans DG, Barwell J, Eccles DM, Collins A, Izatt L, Jacobs C, Donaldson A, Brady AF, Cuthbert A, Harrison R et al (2014) The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services. Breast Cancer Res 16(5):442
Medicine Io: roundtable on translating genomic-based research for health. Institute of Medicine, Washington, DC, 2008
Rogers EM (1995) Diffusion of innovations, 4th edn. Free Press, New York
Cook-Deegan R, Niehaus A (2014) After myriad: genetic testing in the wake of recent supreme court decisions about gene patents. Curr Genet Med Rep 2(4):223–241
Bellcross CA, Kolor K, Goddard KA, Coates RJ, Reyes M, Khoury MJ (2011) Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. Am J Prev Med 40(1):61–66
Roberts MC, Dusetzina SB (2017) The effect of a celebrity health disclosure on demand for health care: trends in BRCA testing and subsequent health services use. J Commun Genet 8(2):141–146
Armstrong J, Toscano M, Kotchko N et al (2015) Utilization and outcomes of brca genetic testing and counseling in a national commercially insured population: the about study. JAMA Oncol 1(9):1251–1260
Rosenberg SM, Ruddy KJ, Tamimi RM et al (2016) BRca1 and brca2 mutation testing in young women with breast cancer. JAMA Oncol 2(6):730–736
Dean M, Boland J, Yeager M, Im KM, Garland L, Rodriguez-Herrera M, Perez M, Mitchell J, Roberson D, Jones K et al: Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2. GigaScience 2015, 4(1):1–13
The Health of Women Study: a program of the Dr. Susan Love Research Foundation. https://how.drsusanloveresearch.org/how-study/my-overview
Chen Z, Kolor K, Grosse SD, Rodriguez JL, Lynch JA, Green RF, Dotson WD, Bowen MS, Khoury MJ: Trends in utilization and costs of BRCA testing among women aged 18–64 years in the United States, 2003–2014. Genet Med 2017
Hoskins PJ, Gotlieb WH (2017) Missed therapeutic and prevention opportunities in women with BRCA-mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: a review of the literature. CA 67(6):493–506
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This research was supported through funding by the Cancer Prevention Fellowship Program, National Cancer Institute.
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Silver, M.I., Klein, W., Samimi, G. et al. Concordance with BRCA1/2 testing guidelines among women in The Health of Women (HOW) Study®. Breast Cancer Res Treat 173, 719–726 (2019). https://doi.org/10.1007/s10549-018-5035-0
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DOI: https://doi.org/10.1007/s10549-018-5035-0