Journal of Genetic Counseling

, Volume 25, Issue 3, pp 461–471 | Cite as

Communication Between Breast Cancer Patients Who Received Inconclusive Genetic Test Results and Their Daughters and Sisters Years After Testing

  • Jessica E. Baars
  • Margreet G. E. M. Ausems
  • Els van Riel
  • Marijke C. Kars
  • Eveline M. A. Bleiker
Original Research


Inconclusive genetic test results including screening recommendations for the breast cancer patients and their first-degree relatives are the most common outcomes of BRCA 1/2 testing. Patients themselves should communicate these results to their relatives. Our aim was to explore communication of breast cancer genetic counseling results with daughters and sisters over a long period of time. Breast cancer patients, who had received an inconclusive DNA test result 7–14 years earlier, completed a self-report questionnaire. Additionally, in-depth interviews were conducted and analysed thematically. Of the 93 respondents, 85 (91 %) considered themselves responsible for communicating genetic test results to relatives. In-depth interviews (n = 14) showed, that counselees wanted ‘to hand over’ their responsibilities to communicate the test results and screening recommendations to their sisters. Although most patients had informed their daughters and sisters about the genetic test results, usually little is spoken about genetic test results and screening recommendations once the duty of informing is completed. We recommend that, similar to the procedure for BRCA1/2-mutation carriers, a separate letter for first-degree relatives of patients with an inconclusive test result should be provided. In this way information about risks and screening recommendations can be verified by family members years after genetic testing has been completed.


Genetic testing Genetic counseling Breast cancer Communication Family Long term Inconclusive test result 



This study was funded by the Dutch Pink Ribbon Foundation (grant number 2010.WO14.C60).

Conflict of Interest

Jessica E. Baars, Margreet G. E. M. Ausems, Els van Riel, Marijke C. Kars, Eveline M. A. Bleiker declare that they have no conflict of interest.

Human Studies and Informed Consent

No human studies were carried out by the authors for this article

Animal Studies

No animal studies were carried out by the authors for this article


  1. Baars, J. E., Bleiker, E. M. A., van Riel, E., Rodenhuis, C. C., Velthuizen, M. E., Schlich, K. J., et al. (2014). Active approach for breast cancer genetic counseling during radiotherapy: long-term psychosocial and medical impact. Clinical Genetics, 85, 524–531.CrossRefPubMedGoogle Scholar
  2. Bleiker, E., Wigbout, G., van Rens, A., Verhoef, S., Van’t Veer, L., & Aaronson, N. (2005). Withdrawal from genetic counselling for cancer. Hereditary Cancer in Clinical Practice, 3, 19–27.CrossRefPubMedPubMedCentralGoogle Scholar
  3. Bleiker, E. M., Menko, F. H., Kluijt, I., Taal, B. G., Gerritsma, M. A., Wever, L. D., et al. (2007). Colorectal cancer in the family: psychosocial distress and social issues in the years following genetic counselling. Hereditary Cancer in Clinical Practice, 5, 59–66.CrossRefPubMedPubMedCentralGoogle Scholar
  4. Boeije, H. R. (2010). Analysis in qualitative research. London: SAGE Publications Ltd.Google Scholar
  5. Bowen, M. (1976). Theory in the practice of psychotherapy. In P. J. Guerin Jr. (Ed.), Family therapy: Theory and practice (pp. 42–90). New York: Garner Press.Google Scholar
  6. Bradbury, A. R., Dignam, J. J., Ibe, C. N., Auh, S. L., Hlubocky, F. J., Cummings, S. A., et al. (2007). How often do BRCA mutation carriers tell their young children of the family’s risk for cancer? A study of parental disclosure of BRCA mutations to minors and young adults. Journal of Clinical Oncology, 25, 3705–3711.CrossRefPubMedGoogle Scholar
  7. Bradbury, A. R., Patrick-Miller, L., Pawlowski, K., Ibe, C. N., Cummings, S. A., Hlubocky, F., et al. (2009). Learning of your parent’s BRCA mutation during adolescence or early adulthood: a study of offspring experiences. Psychooncology, 18, 200–208.CrossRefPubMedPubMedCentralGoogle Scholar
  8. Braun, V., & Clarke, V. (2006). Using thematic analysis in psychology. Qualitative Research in Psychology, 3, 77–101.CrossRefGoogle Scholar
  9. Bylund, C. L., Fisher, C. L., Brashers, D., Edgerson, S., Glogowski, E. A., Boyar, S. R., et al. (2012). Sources of uncertainty about daughters’ breast cancer risk that emerge during genetic counseling consultations. Journal of Genetic Counseling, 21, 292–304.CrossRefPubMedGoogle Scholar
  10. Chivers, S. K., Addington-Hall, J., Lucassen, A. M., & Foster, C. L. (2010). What facilitates or impedes family communication following genetic testing for cancer risk? A systematic review and meta-synthesis of primary qualitative research. Journal of Genetic Counseling, 19, 330–342.CrossRefGoogle Scholar
  11. Cypowyj, C., Eisinger, F., Huiart, L., Sobol, H., & Morin, M. (2009). Subjective interpretation of inconclusive BRCA1/2 cancer genetic test results and transmission of information to the relatives. Psychooncology, 18, 209–215.CrossRefPubMedGoogle Scholar
  12. Dancyger, C., Wiseman, M., Jacobs, C., Smith, J. A., Wallace, M., & Michie, S. (2011). Communicating BRCA1/2 genetic test results within the family: a qualitative analysis. Psychology & Health, 26, 1018–1035.CrossRefGoogle Scholar
  13. De Geus, E., Aalfs, C. M., Verdam, M. G., de Haes, H. C., & Smets, E. M. (2014). Informing relatives about their hereditary or familial cancer risk: study protocol for a randomized controlled trial. Trials, 15, 86.CrossRefPubMedPubMedCentralGoogle Scholar
  14. DeMarco, T. A., & McKinnon, W. C. (2006). Life after BRCA1/2 testing: family communication and support issues. Breast Disease, 27, 127–136.PubMedGoogle Scholar
  15. Domchek, S. M., Friebel, T. M., Singer, C. F., Evans, D. G., Lynch, H. T., Isaacs, C., et al. (2010). Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. Journal of the American Medical Association, 304, 967–975.CrossRefPubMedPubMedCentralGoogle Scholar
  16. Evans, D. G., Graham, J., O’Connell, S., Arnold, S., & Fitzsimmons, D. (2013). Familial breast cancer: summary of updated NICE guidance. British Medical Journal, 346, f3829.CrossRefPubMedGoogle Scholar
  17. Evans, D. G., Thomas, S., Caunt, J., Roberts, L., Howell, A., Wilson, M., et al. (2014). Mammographic surveillance in women aged 35–39 at enhanced familial risk of breast cancer (FH02). Familial Cancer, 13, 13–21.CrossRefPubMedGoogle Scholar
  18. FH01 collaborative teams. (2010). Mammographic surveillance in women younger than 50 years who have a family history of breast cancer: tumour characteristics and projected effect on mortality in the prospective, single-arm, FH01 study. Lancet Oncology, 11, 1127–1134.CrossRefGoogle Scholar
  19. FH01 management committee. (2006). The challenge of evaluating annual mammography screening for young women with a family history of breast cancer. Journal of Medical Screening, 13, 177–182.Google Scholar
  20. Finlay, E., Stopfer, J. E., Burlingame, E., Evans, K. G., Nathanson, K. L., Weber, B. L., et al. (2008). Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations. Genetic Testing, 12, 81–91.CrossRefPubMedPubMedCentralGoogle Scholar
  21. Gaff, C. L., Clarke, A. J., Atkinson, P., Sivell, S., Elwyn, G., Iredale, R., et al. (2007). Process and outcome in communication of genetic information within families: a systematic review. European Journal of Human Genetics, 15, 999–1011.CrossRefPubMedGoogle Scholar
  22. Godard, B., Hurlimann, T., Letendre, M., & Egalite, N. (2006). Guidelines for disclosing genetic information to family members: from development to use. Familial Cancer, 5, 103–116.CrossRefPubMedGoogle Scholar
  23. Herrinton, L. J., Barlow, W. E., Yu, O., Geiger, A. M., Elmore, J. G., Barton, M. B., et al. (2005). Efficacy of prophylactic mastectomy in women with unilateral breast cancer: a cancer research network project. Journal of Clinical Oncology, 23, 4275–4286.CrossRefPubMedGoogle Scholar
  24. Hughes, C., Lerman, C., Schwartz, M., Peshkin, B. N., Wenzel, L., Narod, S., et al. (2002). All in the family: evaluation of the process and content of sisters’ communication about BRCA1 and BRCA2 genetic test results. American Journal of Medical Genetics, 107, 143–150.CrossRefPubMedGoogle Scholar
  25. Kenen, R., Arden-Jones, A., & Eeles, R. (2004). Healthy women from suspected hereditary breast and ovarian cancer families: the significant others in their lives. European Journal of Cancer Care, 13, 169–179.CrossRefPubMedGoogle Scholar
  26. Menko, F. H., Aalfs, C. M., Henneman, L., Stol, Y., Wijdenes, M., Otten, E., et al. (2013). Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. Familial Cancer, 12, 319–324.CrossRefPubMedGoogle Scholar
  27. Nicolas, P. (2009). Ethical and juridical issues of genetic testing: a review of the international regulation. Critical Reviews in Oncology Hematology, 69, 98–107.CrossRefGoogle Scholar
  28. Patenaude, A. F., Dorval, M., DiGianni, L. S., Schneider, K. A., Chittenden, A., & Garber, J. E. (2006). Sharing BRCA1/2 test results with first-degree relatives: factors predicting who women tell. Journal of Clinical Oncology, 24, 700–706.CrossRefPubMedGoogle Scholar
  29. Royal College of Physicians (2011). Consent and confidentiality in clinical genetic practice: guidance on genetic testing and sharing genetic information 2nd edn. Report of the Joint Committee on Medical Genetics. RCP, London.Google Scholar
  30. Schlich-Bakker, K. J., Warlam-Rodenhuis, C. C., van Echtelt, J., van den Bout, J., Ausems, M. G., & ten Kroode, H. F. (2006). Short term psychological distress in patients actively approached for genetic counselling after diagnosis of breast cancer. European Journal of Cancer, 42, 2722–2728.CrossRefPubMedGoogle Scholar
  31. Segal, J., Esplen, M. J., Toner, B., Baedorf, S., Narod, S., & Butler, K. (2004). An investigation of the disclosure process and support needs of BRCA1 and BRCA2 carriers. American Journal of Medical Genetics A, 125A, 267–272.CrossRefGoogle Scholar
  32. Sinicrope, P. S., Brockman, T. A., Patten, C. A., Frost, M. H., Vierkant, R. A., Petersen, L. R., et al. (2008). Factors associated with breast cancer prevention communication between mothers and daughters. Journal of Women’s Health, 17, 1017–1023.CrossRefPubMedPubMedCentralGoogle Scholar
  33. Van Asperen, C. J., Van, D. S., Zoeteweij, M. W., Timmermans, D. R., De Bock, G. H., Meijers-Heijboer, E. J., et al. (2002). What do women really want to know? Motives for attending familial breast cancer clinics. Journal of Medical Genetics, 39, 410–414.CrossRefPubMedPubMedCentralGoogle Scholar
  34. Van Riel, E., Van Dulmen, S., & Ausems, M. G. (2012). Who is being referred to cancer genetic counseling? Characteristics of counselees and their referral. Journal of Community Genetics, 3, 265–274.CrossRefPubMedPubMedCentralGoogle Scholar
  35. Vos, J., Oosterwijk, J. C., Gomez-Garcia, E., Menko, F. H., Jansen, A. M., Stoel, R. D., et al. (2011). Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results. Clinical Genetics, 79, 207–218.CrossRefPubMedGoogle Scholar
  36. Warlam-Rodenhuis, C. C., Koot, V. C., van der Luijt, R. B., Vasen, H. F., & Ausems, M. G. (2005). A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients. European Journal of Cancer, 41, 1409–1415.CrossRefPubMedGoogle Scholar
  37. Wiseman, M., Dancyger, C., & Michie, S. (2010). Communicating genetic risk information within families: a review. Familial Cancer, 9, 691–703.CrossRefPubMedGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2015

Authors and Affiliations

  • Jessica E. Baars
    • 1
    • 2
  • Margreet G. E. M. Ausems
    • 1
  • Els van Riel
    • 1
  • Marijke C. Kars
    • 3
  • Eveline M. A. Bleiker
    • 2
    • 4
  1. 1.Department of Medical Genetics, Division of Biomedical GeneticsUniversity Medical Center UtrechtUtrechtThe Netherlands
  2. 2.Division of Psychosocial Research and EpidemiologyThe Netherlands Cancer InstituteAmsterdamThe Netherlands
  3. 3.Department of Medical Humanities, Julius Center for Health Sciences and Primary CareUniversity Medical Center UtrechtUtrechtThe Netherlands
  4. 4.Family Cancer ClinicThe Netherlands Cancer InstituteAmsterdamThe Netherlands

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