Survey of unaffected BRCA and mismatch repair (MMR) mutation positive individuals


Many individuals do not proceed with cancer predisposition testing due to fears of genetic discrimination (GD). We report the results of a survey of 47 unaffected, mutation positive individuals regarding insurance outcomes. Participants recruited from six different Cancer Risk Programs across the country were queried about their experiences with health, life, and disability insurance, as well as employment issues. Eighty-seven percent of participants carried a BRCA mutation and 87% were part of a group insurance plan at the time of testing. Forty-seven percent of participants self-paid for testing. Less than 10% of participants reported that their results were placed in the general medical record, while 43% did not know where their results were placed. Due to concerns about GD, 13% of participants stated they avoided changing jobs. Thirteen percent stated that their at-risk relatives had not undergone testing for the familial mutation due to fears about GD. Adverse events following genetic testing included two denials from private health insurers, one denial for average life insurance coverage and one denial for additional disability insurance. There were no reports of job discrimination. Results suggest fear of GD is prevalent, yet data do not support evidence that GD exists.

This is a preview of subscription content, access via your institution.


  1. 1.

    Claus EB, Schildkraut JM, Thompson WD, Risch NJ (1996) The genetic attributable risk of breast and ovarian cancer. Cancer 77:2318–2324. doi:10.1002/(SICI)1097-0142(19960601)77:11<2318::AID-CNCR21>3.0.CO;2-Z

    Article  CAS  PubMed  Google Scholar 

  2. 2.

    Easton DF, Ford D, Bishop DT, Breast Cancer Linkage Consortium (1998) Breast and ovarian cancer incidence in BRCA1 mutation carriers. Am J Hum Genet 56:265–271

    Google Scholar 

  3. 3.

    Roa BB, Boyd AA, Volcik K, Sue Richards C (1996) Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 1(14):185–187. doi:10.1038/ng1096-185

    Article  Google Scholar 

  4. 4.

    Ford D, Easton DF, Stratton M et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet 62:676–689. doi:10.1086/301749

    Article  CAS  PubMed  Google Scholar 

  5. 5.

    Burke W, Daly M, Garber J et al (1997) Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. JAMA 277:997–1003. doi:10.1001/jama.277.12.997

    Article  CAS  PubMed  Google Scholar 

  6. 6.

    Hartmann LC, Schaid DJ, Woods JE et al (1999) Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 340:77–84. doi:10.1056/NEJM199901143400201

    Article  CAS  PubMed  Google Scholar 

  7. 7.

    Kauff ND, Satagopan JM, Robson ME et al (2002) Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 346:1609–1615. doi:10.1056/NEJMoa020119

    Article  PubMed  Google Scholar 

  8. 8.

    Rebbeck TR, Lynch HT, Neuhausen SL et al (2002) Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 346:1616–1622. doi:10.1056/NEJMoa012158

    Article  PubMed  Google Scholar 

  9. 9.

    Rebbeck TR et al (2009) Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 101(2):80–87. doi:10.1093/jnci/djn442

    Article  CAS  PubMed  Google Scholar 

  10. 10.

    Aaltonen LA, Salovaara R, Kristo P et al (1998) Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening of the disease. N Engl J Med 338:1481–1487. doi:10.1056/NEJM199805213382101

    Article  CAS  PubMed  Google Scholar 

  11. 11.

    Aarnio M, Sankila R, Pukkala E et al (1999) Cancer risk in mutation carriers of DNA mismatch repair genes. Int J Cancer 81:214–218. doi:10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L

    Article  CAS  PubMed  Google Scholar 

  12. 12.

    Jarvinen HJ, Aarnio M, Mustonen H et al (2000) Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118:829–834. doi:10.1016/S0016-5085(00)70168-5

    Article  CAS  PubMed  Google Scholar 

  13. 13.

    Viner JL, Umar A, Hawk ET (2002) Chemoprevention of colorectal cancer: problems, progress, and prospects. Gastroenterol Clin North Am 31:971–999. doi:10.1016/S0889-8553(02)00055-9

    Article  PubMed  Google Scholar 

  14. 14.

    American Society of Clinical Oncology (2003) Policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 21(12):2397–2406

    Article  Google Scholar 

  15. 15.

    The NCCN clinical practice guidelines in oncology- genetic/familial high-risk assessment: breast and ovarian. J Nat Compr Canc Netw 2008. V.I. 2008:1–30

  16. 16.

    Bosompra K, Flynn BS, Ashkiaga T et al (2000) Likelihood of undergoing genetic testing for cancer risk: a population based study. Prev Med 30:155–166. doi:10.1006/pmed.1999.0610

    Article  CAS  PubMed  Google Scholar 

  17. 17.

    Lynch HT, Watson P, Tinley S et al (1999) An update on DNA-based BRCA1/BRCA2 genetic counseling in hereditary breast cancer. Cancer Genet Cytogenet 109:91–98. doi:10.1016/S0165-4608(98)00165-4

    Article  CAS  PubMed  Google Scholar 

  18. 18.

    Geller G, Bernhardt BA, Doksum T et al (1998) Decision-making about breast cancer susceptibility testing: how similar are the attitudes of physicians, nurse practitioners, and at-risk women? JCO 16:2868–2876

    CAS  Google Scholar 

  19. 19.

    Benkendorf JL, Reutenauer JE, Hughes CA et al (1997) Patients’ attitudes about autonomy and confidentiality in genetic testing for breast-ovarian cancer susceptibility. Am J Med Genet 73:296–303. doi:10.1002/(SICI)1096-8628(19971219)73:3<296::AID-AJMG13>3.0.CO;2-E

    Article  CAS  PubMed  Google Scholar 

  20. 20.

    Apse K, Biesecker B, Giardiello F, Fuller B, Bernhardt B (2004) Perceptions of genetic discrimination among at-risk relatives of colorectal cancer patients. Genet Med 6:510–516. doi:10.1097/01.GIM.0000144013.96456.6C

    PubMed  Google Scholar 

  21. 21.

    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 Epid Biom Prev 11:79–87

    Google Scholar 

  22. 22.

    Geetter JS (2002) The power of the human genome to transform the American insurance system. Am J Law Med 28:1–76

    PubMed  Google Scholar 

  23. 23.

    Nowlan W (2002) A rational view of insurance and genetic discrimination. Science 297:195–196. doi:10.1126/science.1070987

    Article  CAS  PubMed  Google Scholar 

  24. 24.

  25. 25.

  26. 26.

  27. 27.

    Taylor S, Treloar S, Barlow-Stewart K, Stranger M, Otlowski M (2008) Investigating genetic discrimination in Australia: a large-scale survey of clinical genetics clients. Clin Genet 74:20–30. doi:10.1111/j.1399-0004.2008.01016.x

    Article  CAS  PubMed  Google Scholar 

  28. 28.

    Lowstuter KJ et al (2008) Influence of genetic discrimination perceptions and knowledge on cancer genetics referral practice among clinicians. Genet Med 10(9):691–698. doi:10.1097/GIM.0b013e3181837246

    PubMed  Article  Google Scholar 

Download references

Funding source

This pilot study was funded by the National Society of Genetic Counselors Cancer Special Interest Group. Ms. Banks was supported in part by NIH grant #R25 CA85771 (PI: J. Weitzel).

Author information



Corresponding author

Correspondence to Wendy McKinnon.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

McKinnon, W., Banks, K.C., Skelly, J. et al. Survey of unaffected BRCA and mismatch repair (MMR) mutation positive individuals. Familial Cancer 8, 363–369 (2009).

Download citation


  • Genetic discrimination
  • Genetic counseling
  • Insurance