Familial Cancer

, Volume 10, Issue 4, pp 673–679 | Cite as

Communication of BRCA1 and BRCA2 genetic test results to health care providers following genetic testing at a tertiary care center

  • K. Ready
  • B. K. Arun
  • K. M. Schmeler
  • A. Uyei
  • J. K. Litton
  • K. H. Lu
  • C. C. Sun
  • S. K. Peterson


Individuals at high risk for hereditary cancers often receive genetic counseling and testing at tertiary care centers; however, they may receive care for long-term management of their cancer risk in community settings. Communication of genetic test results to health care providers outside of tertiary care settings can facilitate the long-term management of high risk individuals. This study assessed women’s communication of BRCA1/BRCA2 genetic test results to health care providers outside of tertiary care settings (termed “outside” health care providers, or OHCPs) and women’s perceptions regarding communication of results. Women (n = 312) who underwent BRCA1/BRCA2 genetic counseling and testing completed a questionnaire assessing whether or not they shared test results with OHCPs and perceptions regarding the communication of test results to OHCPs. Most (72%) shared genetic test results with OHCPs. Women with no personal history of cancer were more likely to have shared results compared to women with a personal history of cancer. Mutation status did not significantly predict sharing of genetic information. Most reported positive perceptions regarding the disclosure of genetic test results to OHCPs. The majority did not report any concerns about potential insurance discrimination (88%) and indicated that OHCPs were able to appropriately address their questions (81%). Although most women shared their genetic test results with OHCPs, those with a personal history of cancer may need further encouragement to share this information. Tertiary care centers should facilitate outreach and education with OHCPs in order to assure appropriate long-term cancer risk management for high risk populations.


BRCA1 BRCA2 Communication Health care providers Genetic testing Test results 


  1. 1.
    Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25:1329–1333PubMedCrossRefGoogle Scholar
  2. 2.
    Ford D, Easton DF, Bishop DT et al (1994) Risks of cancer in BRCA1-mutation carriers. Breast cancer linkage consortium. Lancet 343:692–695PubMedCrossRefGoogle Scholar
  3. 3.
    Ford D, Easton DF, Stratton M et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The breast cancer linkage consortium. Am J Hum Genet 62:676–689PubMedCrossRefGoogle Scholar
  4. 4.
    Saslow D, Boetes C, Burke W et al (2007) American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 57:75–89PubMedCrossRefGoogle Scholar
  5. 5.
    King MC, Wieand S, Hale K et al (2001) Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) breast cancer prevention trial. JAMA 286:2251–2256PubMedCrossRefGoogle Scholar
  6. 6.
    Narod SA, Brunet JS, Ghadirian P et al (2000) Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet 356:1876–1881PubMedCrossRefGoogle Scholar
  7. 7.
    Antoniou AC, Rookus M, Andrieu N et al (2009) Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study. Cancer Epidemiol Biomarkers Prev 18:601–610PubMedCrossRefGoogle Scholar
  8. 8.
    McLaughlin JR, Risch HA, Lubinski J et al (2007) Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lancet Oncol 8:26–34PubMedCrossRefGoogle Scholar
  9. 9.
    Hartmann LC, Sellers TA, Schaid DJ et al (2001) Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst 93:1633–1637PubMedCrossRefGoogle Scholar
  10. 10.
    Meijers-Heijboer H, van Geel B, van Putten WL et al (2001) Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 345:159–164PubMedCrossRefGoogle Scholar
  11. 11.
    Rebbeck TR, Friebel T, Lynch HT et al (2004) Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 22:1055–1062PubMedCrossRefGoogle Scholar
  12. 12.
    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 346:1609–1615PubMedCrossRefGoogle Scholar
  13. 13.
    Rebbeck TR, Levin AM, Eisen A et al (1999) Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst 91:1475–1479PubMedCrossRefGoogle Scholar
  14. 14.
    Rebbeck TR, Lynch HT, Neuhausen SL et al (2002) Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 346:1616–1622PubMedCrossRefGoogle Scholar
  15. 15.
    Olopade OI, Artioli G (2004) Efficacy of risk-reducing salpingo-oophorectomy in women with BRCA-1 and BRCA-2 mutations. Breast J 10(Suppl 1):5–9CrossRefGoogle Scholar
  16. 16.
    Kurian AW, Sigal BM, Plevritis SK (2009) Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers. J Clin Oncol 28:222–231PubMedCrossRefGoogle Scholar
  17. 17.
    McInerney JD (2008) Genetics education for health professionals: a context. J Genet Couns 17:145–151PubMedCrossRefGoogle Scholar
  18. 18.
    ACOG Practice Bulletin No. 103 (2009) Hereditary breast and ovarian cancer syndrome. Obstet Gynecol 113:957–966Google Scholar
  19. 19.
    NCCN Clinical Practice Guidelines. Genetic/Familial High-Risk Assessment: Breast and Ovarian (2009) www.nccn.org. Retrieved 10 Jan 2010
  20. 20.
    Nelson HD, Huffman LH, Fu R et al (2005) Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the US preventive services task force. Ann Intern Med 143:362–379PubMedGoogle Scholar
  21. 21.
    Lancaster JM, Powell CB, Kauff ND et al (2007) Society of gynecologic oncologists education committee statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol 107:159–162PubMedCrossRefGoogle Scholar
  22. 22.
    Acton RT, Burst NM, Casebeer L et al (2000) Knowledge, attitudes, and behaviors of Alabama’s primary care physicians regarding cancer genetics. Acad Med 75:850–852PubMedCrossRefGoogle Scholar
  23. 23.
    Freedman AN, Wideroff L, Olson L et al (2003) US physicians’ attitudes toward genetic testing for cancer susceptibility. Am J Med Genet A 120A:63–71PubMedCrossRefGoogle Scholar
  24. 24.
    Pichert G, Dietrich D, Moosmann P et al (2003) Swiss primary care physicians’ knowledge, attitudes and perception towards genetic testing for hereditary breast cancer. Fam Cancer 2:153–158PubMedCrossRefGoogle Scholar
  25. 25.
    Escher M, Sappino AP (2000) Primary care physicians’ knowledge and attitudes towards genetic testing for breast-ovarian cancer predisposition. Ann Oncol 11:1131–1135PubMedCrossRefGoogle Scholar
  26. 26.
    Armstrong K, Stopfer J, Calzone K et al (2002) What does my doctor think? Preferences for knowing the doctor’s opinion among women considering clinical testing for BRCA1/2 mutations. Genet Test 6:115–118PubMedCrossRefGoogle Scholar
  27. 27.
    Tinley ST, Houfek J, Watson P et al (2004) Screening adherence in BRCA1/2 families is associated with primary physicians’ behavior. Am J Med Genet A 125A:5–11PubMedCrossRefGoogle Scholar
  28. 28.
    Uyei A, Peterson SK, Erlichman J et al (2006) Association between clinical characteristics and risk-reduction interventions in women who underwent BRCA1 and BRCA2 testing: a single-institution study. Cancer 107:2745–2751PubMedCrossRefGoogle Scholar
  29. 29.
    Litton JK, Westin SN, Ready K et al (2009) Perception of screening and risk reduction surgeries in patients tested for a BRCA deleterious mutation. Cancer 115:1598–1604PubMedCrossRefGoogle Scholar
  30. 30.
    Morgan D, Sylvester H, Lucas FL et al (2010) Hereditary breast and ovarian cancer: referral source for genetic assessment and communication regarding assessment with nongenetic clinicians in the community setting. Genet Med 12:25–31PubMedCrossRefGoogle Scholar
  31. 31.
    Cheung WY, Neville BA, Cameron DB et al (2009) Comparisons of patient and physician expectations for cancer survivorship care. J Clin Oncol 27:2489–2495PubMedCrossRefGoogle Scholar
  32. 32.
    Hall MA, McEwen JE, Barton JC et al (2005) Concerns in a primary care population about genetic discrimination by insurers. Genet Med 7:311–316PubMedCrossRefGoogle Scholar
  33. 33.
    Rowley PT, Loader S (1996) Attitudes of obstetrician-gynecologists toward DNA testing for a genetic susceptibility to breast cancer. Obstet Gynecol 88:611–615PubMedCrossRefGoogle Scholar
  34. 34.
    Barrison AF, Smith C, Oviedo J et al (2003) Colorectal cancer screening and familial risk: a survey of internal medicine residents’ knowledge and practice patterns. Am J Gastroenterol 98:1410–1416PubMedCrossRefGoogle Scholar
  35. 35.
    Blazer KR, Grant M, Sand SR et al (2004) Effects of a cancer genetics education programme on clinician knowledge and practice. J Med Genet 41:518–522PubMedCrossRefGoogle Scholar
  36. 36.
    Schroy PC 3rd, Barrison AF, Ling BS et al (2002) Family history and colorectal cancer screening: a survey of physician knowledge and practice patterns. Am J Gastroenterol 97:1031–1036PubMedCrossRefGoogle Scholar
  37. 37.
    Offit K, Greene MH (2004) ASCO curriculum: cancer genetics and cancer predisposition testing, 2nd edn. ASCO Publishing, Alexandria, VAGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2011

Authors and Affiliations

  • K. Ready
    • 1
  • B. K. Arun
    • 1
  • K. M. Schmeler
    • 2
  • A. Uyei
    • 3
  • J. K. Litton
    • 1
  • K. H. Lu
    • 2
  • C. C. Sun
    • 2
  • S. K. Peterson
    • 4
  1. 1.Department of Breast Medical OncologyUniversity of Texas MD Anderson Cancer CenterHoustonUSA
  2. 2.Department of Gynecologic OncologyUniversity of Texas MD Anderson Cancer CenterHoustonUSA
  3. 3.Southbay Oncology Hematology PartnersCampbellUSA
  4. 4.Department of Behavioral ScienceThe University of Texas MD Anderson Cancer CenterHoustonUSA

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