Skip to main content

Advertisement

SpringerLink
Log in

Concordance with BRCA1/2 testing guidelines among women in The Health of Women (HOW) Study®

  • Epidemiology
  • Published:
Breast Cancer Research and Treatment Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. 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

  2. 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

    Article  PubMed  Google Scholar 

  3. 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

    Article  PubMed  Google Scholar 

  4. 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

    Article  Google Scholar 

  5. ACOG Practice Bulletin No (2009) 103: Hereditary breast and ovarian cancer syndrome. Obstet Gynecol 113(4):957–966

    Article  Google Scholar 

  6. Szabo CIKM (1997) Population genetics of BRCA1 and BRCA2. Am J Hum Genet 60(5):1013–1020

    PubMed  PubMed Central  CAS  Google Scholar 

  7. 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

    Article  PubMed  Google Scholar 

  8. Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329–1333

    Article  PubMed  PubMed Central  Google Scholar 

  9. 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

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  10. version4.2013 Ng. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. 2013

  11. Network NCC (2015) Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women. In: National Comprehensive Cancer Network, vol. 2

  12. 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

    Article  PubMed  Google Scholar 

  13. 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

    Article  Google Scholar 

  14. 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

    Article  Google Scholar 

  15. 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

    Article  PubMed  PubMed Central  Google Scholar 

  16. 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

    Article  Google Scholar 

  17. 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

    Article  PubMed  Google Scholar 

  18. 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

    Article  PubMed  PubMed Central  Google Scholar 

  19. 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

    Article  PubMed  Google Scholar 

  20. Juthe RH, Zaharchuk A, Wang C (2015) Celebrity disclosures and information seeking: the case of Angelina Jolie. Genet Med 17(7):545–553

    Article  PubMed  Google Scholar 

  21. 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

    Article  PubMed  Google Scholar 

  22. 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

    Article  Google Scholar 

  23. 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

    Article  PubMed  PubMed Central  Google Scholar 

  24. Medicine Io: roundtable on translating genomic-based research for health. Institute of Medicine, Washington, DC, 2008

  25. Rogers EM (1995) Diffusion of innovations, 4th edn. Free Press, New York

    Google Scholar 

  26. 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

    Article  PubMed  PubMed Central  Google Scholar 

  27. 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

    Article  PubMed  Google Scholar 

  28. 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

    Article  Google Scholar 

  29. 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

    Article  PubMed  Google Scholar 

  30. 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

    Article  PubMed  PubMed Central  Google Scholar 

  31. 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

    Article  CAS  Google Scholar 

  32. The Health of Women Study: a program of the Dr. Susan Love Research Foundation. https://how.drsusanloveresearch.org/how-study/my-overview

  33. 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

  34. 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

    Google Scholar 

Download references

Funding

This research was supported through funding by the Cancer Prevention Fellowship Program, National Cancer Institute.

Author information

Authors and Affiliations

  1. Division of Cancer Control and Population Sciences, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD, 20850, USA

    Michelle I. Silver, William Klein & Megan C. Roberts

  2. Division of Cancer Prevention, National Cancer Institute, Rockville, MD, USA

    Goli Samimi & Lori Minasian

  3. Division of Cancer Epidemiology & Genetics, National Cancer Institute, Rockville, MD, USA

    Michelle I. Silver & Jennifer Loud

Authors
  1. Michelle I. Silver
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. William Klein
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Goli Samimi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Lori Minasian
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Jennifer Loud
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Megan C. Roberts
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Michelle I. Silver.

Ethics declarations

Conflict of interest

The authors declare no conflicts of interest.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (DOCX 63 KB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

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

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10549-018-5035-0

Keywords

Search

Navigation