Journal of Genetic Counseling

, Volume 16, Issue 4, pp 433–456 | Cite as

Results of an Intervention for Individuals and Families with BRCA Mutations: A Model for Providing Medical Updates and Psychosocial Support Following Genetic Testing

  • Wendy McKinnonEmail author
  • Shelly Naud
  • Taka Ashikaga
  • Rose Colletti
  • Marie Wood
Original Paper

Providing medical management updates and long-term support to families with hereditary cancer syndromes in rural areas is a challenge. To address this, we designed a one-day retreat for BRCA1/2 carriers in our region. The retreat included educational updates about medical management, genetic privacy and discrimination, and addressed psychological and family issues. Evaluations completed at the conclusion of the retreat were overwhelmingly positive with requests for a similar event in the future. The impact of this retreat on a variety of health behaviors was assessed. Eligible participants completed questionnaires before and 6 months after the retreat. Questionnaires focused on lifestyle, cancer screening and prevention practices, psychological history and distress, decision-making regarding genetic testing, and family communication issues. For individuals who completed both the pre and post retreat questionnaires, one-half made lifestyle changes and nearly two-thirds increased cancer screening, initiated chemoprevention, completed or planned to complete preventative surgery in the future. We conclude that this type of forum provides a valuable opportunity for BRCA carriers and their families to receive updated medical information, share personal experiences, provide and receive support, as well as change health behaviors.


genetic counseling genetic testing BRCA carriers decision making family communication psychoeducational intervention. 



Susan G. Komen Foundation for funding of this event. All the individuals and families who participated in the retreat. The Vermont Cancer Center for their help with the logistical planning of the retreat. All the University of Vermont faculty who devoted their time and energy in being part of the retreat.


  1. Antoniou, A., Pharoah, P. D., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., et al. (2003). Average risks of breast and ovarian cancer associated with BRCA1 and BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet, 72, 1117–1130.CrossRefGoogle Scholar
  2. Armstrong, K., Calzone, K., Stopfer, J., Fitzgerald, G., Coyne, J., & Weber, B. (2000). Factors associated with decisions about clinical BRCA1/2 testing. Cancer, Epidem, Bio Prev, 9, 1251–1254.Google Scholar
  3. Breast Cancer Linkage Consortium. (1999). Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst, 91, 1310–1316.CrossRefGoogle Scholar
  4. Cella, D. F., Mahon, S. M., & Donovan, M. I. (1990). Cancer recurrence as a traumatic event. Behav Med, 16, 15022.CrossRefGoogle Scholar
  5. d’Agincourt-Canning, L. (2001). Experience of genetic risk: Disclosure and the gendering of responsibility. Bioethics, 15(3), 231–247.CrossRefGoogle Scholar
  6. Di Prospero, L. S., Seminsky, M., Honeyford, J., Doan, B., Franssen, E., Mechino, W., Chart, P., & Warner, E. (2001). Psychosocial issues following a positive result of genetic testing for BRCA1 and BRCA2 mutations: findings from a focus group and a needs-assessment survey. CMAJ, 164(7), 1005–1009.PubMedPubMedCentralGoogle Scholar
  7. Dorval, M., Maunsell, E., Dugas, M. J., & Simard, J. (2001). Support groups for people carrying a BRCA mutation. JAMC, 165(6), 740.Google Scholar
  8. Dunkel-Schetter, C. (1984). Social support and cancer: findings based on patient interviews and their interpretations. J Soc Issues, 40, 77–98.CrossRefGoogle Scholar
  9. Easton, D. F., Ford, D., & Bishop, D. T. (1995). Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet, 56, 265–271.CrossRefGoogle Scholar
  10. Esplen, M. J., Hunter, J., Leszcz, M., Warner, E., Narod, S., Metcalfe, K., et al. (2004). A multicenter study of supportive-expressive group therapy for women with BRCA1/BRCA2 mutations. Cancer, 101, 2327–2340.CrossRefGoogle Scholar
  11. Ford, D., Easton, D. F., Bishop, D. T., Narod, S.A., & Goldgar, D. E. (1994). Risks of cancer in BRCA1-mutation carriers. Lancet, 343, 692–695.CrossRefGoogle Scholar
  12. Forrest, K., Simpson, S. A., Wilson, B. J., van Teijlingen, E. R., McKee, L., Haites, N., & Matthews, E. (2003). To tell or not to tell: barriers and facilitators in family communication about genetic risk. Clin Genet, 64, 317–326.CrossRefGoogle Scholar
  13. Friedenson, B. (2005). BRCA1 and BRCA2 pathways and the risk of cancers other than breast or ovarian. Medscape Gen Med, 7(2), 60.Google Scholar
  14. Galinsky, M. J., & Schopler, J. H. (1994). Negative experiences in support groups. Social Work Health Care Special Issue, 20, 77–95.CrossRefGoogle Scholar
  15. Gray, R. E., James, P., Manthorne, B. A., Gould, J., & Fitch, M. I. (2004). A consultation with Canadian rural women with breast cancer. Health Exp, 7, 40–50.CrossRefGoogle Scholar
  16. Hallowell, N., & Murton, F. (1998). The value of written summaries of genetic consultations. Patient Edu Couns, 35(1), 27–34.CrossRefGoogle Scholar
  17. Horowitz, M., Wilner, N., & Alvarez, W. (1979). Impact of event scale: A measure of subjective stress. Psychosom Med, 41, 209–218.CrossRefGoogle Scholar
  18. Horowitz, M. (1982). Stress response syndromes and their treatment. In: Goldberg, L., and Breznitz, S. (Eds.), Handbook of stress: Theoretical and clinical aspects. Free Press: New York, pp. 711–732.Google Scholar
  19. Hughes, C., Lerman, C., Schwartz, M., Peshkin, B., Wenzel, L., Narod, S., Corio, C., Tercyak, K., Hanna, D., Isaacs, C., & Main, D. (2002). All in the family: Evaluation of the process and content of sisters’ communication about BRCA1 and BRCA2 genetic test results. Am J Med Genet, 107, 143–150.CrossRefGoogle Scholar
  20. Karp, J., Brown, K. L., Sullivan, M. D., & Massie, M. J. (1999). The prophylactic mastectomy dilemma: A support group for women at high genetic risk for breast cancer. J Genet Couns, 8(3), 163–173.CrossRefGoogle Scholar
  21. Kelly, K., Leventhal, H., Andrykowksi, M., Toppmeyer, D., Much, J., Dermody, J., Marvin, M., Baran, J., & Schwalb, M. (2004). The decision to test in women receiving genetic counseling for BRCA1 and BRCA2 mutations. J Genet Couns, 13(3), 237–257.CrossRefGoogle Scholar
  22. King, M. C., Marks, J. H., & Handell, J.B. (2003). Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science, 302, 643.CrossRefGoogle Scholar
  23. Kotsopoulos, J., & Narod, S. A. (2005). Towards a dietary prevention of hereditary breast cancer. Can Causes Contr, 16, 125–138.CrossRefGoogle Scholar
  24. Lerman, C., Biesecker, B. B., Benkendorf, J. L., Kerner, J., Gomez-Caminero, A., Hughes, C., et al. (1997). Controlled trial of pretenst education approaches to enhance infored decision-making for BRCA1 gene testing. J Natl Cancer Inst, 89(2), 148–157.CrossRefGoogle Scholar
  25. Lerman, C., Hughes, C., Lemon, S. J., Lemon, S. J., Main, D., Snyder, C., et al. (1998). What you don't know can hurt you: Adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing. J Clin Oncol, 16, 1639–1641.CrossRefGoogle Scholar
  26. Liede, A., Karlan, B. Y., & Narod, S. A. (2004). Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: A review of the literature. J Clin Oncol, 22, 735–742.CrossRefGoogle Scholar
  27. Liede, A., Metcalfe, K., Hanna, D., Hoodfar, E., Snyder, C., Durham, C., et al. (2000). Evaluation of the needs of male carries of mutations in BRCA1 or BRCA2 who have undergone genetic counseling. Am J Hum Genet, 67, 1494–1504.CrossRefGoogle Scholar
  28. Lodder, L., Frets, P. G., Trijsburg, R. W., Klijn, J. G., Seynaeve, C., Tilanus, M. M., et al. (2003). Attitudes and distress levels in women at risk to carry a BRCA1/BRCA2 gene mutation who decline genetic testing. Am J Med Genet, 119A, 266–272.CrossRefGoogle Scholar
  29. Lynch, H. T., Watson, P., Tinley, S., Snyder, C., Durham, C., Lynch, J., et al. (1999). An update on DNA-based BRCA1/BRCA2 genetic counseling in hereditary breast cancer. Can Genet Cytogenet, 109, 91–98.CrossRefGoogle Scholar
  30. McInerney-Leo, A., Biesecker, B. B., Hadley, D. W., Kase, R. G., Giambarresi, T. R., Johnson, E., Lerman, C., & Struewing, J. P. (2005). BRCA1/2 testing in hereditary breast and ovarian cancer families II: Impact on relationships. Am J Med Genet, 133A, 165–169.CrossRefGoogle Scholar
  31. McKinnon, W., Guttmacher, A., Greenblatt, M., Compas, B., May, S., Cutler, R., & Yandell, D. (1997). The familial cancer program of the vermont cancer center: Development of a cancer genetics program in a rural area. J Genet Coun, 6(2), 131–145.CrossRefGoogle Scholar
  32. Meiser, B. (2005). Psychological impact of genetic testing for cancer susceptibility: An update of the literature. Psycho-Oncology, 14, 1060–1074.CrossRefGoogle Scholar
  33. Metcalfe, K. A., Liede, A., Trinkaus, M., Hanna, D., & Narod, S. A. (2002). Evaluation of the needs of spouses of female carriers of mutations in BRCA1 and BRCA2. Clin Genet, 62, 464–469.CrossRefGoogle Scholar
  34. Metcalf, K., Lynch, H. T., Ghadirian, P., Tung, N., Olivotto, I., Warner, E., et al. (2004). Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol, 22, 2328–2335.CrossRefGoogle Scholar
  35. Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal, P. A., Harshman, K., Tavtigian, S., et al. (1994). A strong candidate for the breast cancer and ovarian cancer susceptibility gene BRCA1. Science, 226, 66–71.CrossRefGoogle Scholar
  36. Montazeri, A., Jarvandi, S., Haghighat, S., Vahdani, M., Sajadian, A., Ebrahimi, M., & Haji-Mahmoodi, M. (2001). Anxiety and depression in breast cancer patients before and after participation in a cancer support group. Patient Educ Couns, 45, 195–198.CrossRefGoogle Scholar
  37. Narod, S. A., & Offit, K. (2005). Prevention and management of hereditary breast cancer. J Clin Oncol, 23, 1656–1663.CrossRefGoogle Scholar
  38. Peterson, S. K., Watts, B. G., Koehly, L. M., Vernon, S. W., Baile, W. F., Kohlman, W. K., & Gritz, E. R. (2003). How families communicate about HNPCC testing: Findings from a qualitative study. Am J Med Genet, 119C, 78–86.CrossRefGoogle Scholar
  39. Speice, J., McDonald, S. H., Rowley, P. T., & Loader, S. (2002). Family issues in a psychoeducation group for women with a BRCA mutation. Clin Genet, 62, 121–127.CrossRefGoogle Scholar
  40. Thewes, B., Meiser, B., & Hickie, I. (2001). Psychometric properties of the impact of event scale amongst women at increased risk for hereditary breast cancer. Psycho-Oncology, 10, 459–468.CrossRefGoogle Scholar
  41. Von Riper, M., & McKinnon, W. (2004). Genetic testing for breast and ovarian cancer susceptibility: A family experience. J Midwifery Womens Health, 49, 210–219.CrossRefGoogle Scholar
  42. Wainberg, S., & Husted, J. (2004). Utilization of screening and preventive surgery among unaffected carriers of a BRCA1 or BRCA2 gene mutation. Can Epidemiol Biomarkers Prev, 13(12), 1989–1995.Google Scholar
  43. Wideroff, L., Vadaparampil, S. T., Greene, M. H., Talin, S., Olson, L., & Freedman, A. N. (2005). Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians. J Med Genet, 42, 749–755.CrossRefGoogle Scholar
  44. Wooster, R., Bignell, G., Lancaster, J., Swift, S., Seal, S., Mangion, J., et al. (1995). Identification of the breast cancer susceptibility gene BRCA2. Nature, 378, 789–792.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Wendy McKinnon
    • 1
    • 5
    Email author
  • Shelly Naud
    • 2
  • Taka Ashikaga
    • 2
  • Rose Colletti
    • 3
  • Marie Wood
    • 4
  1. 1.Department of PediatricsUniversity of Vermont College of MedicineBurlingtonUSA
  2. 2.Department of Medical BiostatisticsUniversity of Vermont College of MedicineBurlingtonUSA
  3. 3.Cancer Patient Support ProgramFletcher Allen Health CareBurlingtonUSA
  4. 4.Department of MedicineUniversity of Vermont College of MedicineBurlingtonUSA
  5. 5.Department of Pediatrics112 Colchester AvenueBurlingtonUSA

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