Journal of Genetic Counseling

, Volume 26, Issue 6, pp 1280–1291 | Cite as

Universal BRCA1/BRCA2 Testing for Ovarian Cancer Patients is Welcomed, but with Care: How Women and Staff Contextualize Experiences of Expanded Access

  • Hannah Shipman
  • Samantha Flynn
  • Carey F MacDonald-Smith
  • James Brenton
  • Robin Crawford
  • Marc Tischkowitz
  • on behalf of the GTEOC Study Group
  • Nicholas J Hulbert-Williams
Original Research


Decreasing costs of genetic testing and advances in treatment for women with cancer with germline BRCA1/BRCA2 mutations have heralded more inclusive genetic testing programs. The Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study, investigates the feasibility and acceptability of offering genetic testing to all women recently diagnosed with epithelial ovarian cancer (universal genetic testing or UGT). Study participants and staff were interviewed to: (i) assess the impact of UGT (ii) integrate patients’ and staff perspectives in the development of new UGT programs. Semi-structured interviews were conducted with twelve GTEOC Study participants and five members of staff involved in recruiting them. The transcripts were transcribed verbatim and analyzed using Interpretative Phenomenological Analysis. There are two super-ordinate themes: motivations and influences around offers of genetic testing and impacts of genetic testing in ovarian cancer patients. A major finding is that genetic testing is contextualized within the broader experiences of the women; the impact of UGT was minimized in comparison with the ovarian cancer diagnosis. Women who consent to UGT are motivated by altruism and by their relatives’ influence, whilst those who decline are often considered overwhelmed or fearful. Those without a genetic mutation are usually reassured by this result, whilst those with a genetic mutation must negotiate new uncertainties and responsibilities towards their families. Our findings suggest that UGT in this context is generally acceptable to women. However, the period shortly after diagnosis is a sensitive time and some women are emotionally overburdened. UGT is considered a ‘family affair’ and staff must acknowledge this.


UK BRCA1 BRCA2 Genetic counseling Interpretive phenomenological analysis (IPA) Ovarian cancer Oncology 



We would like to thank the patients and clinical staff who took part in this study. Members of the GTEOC Study Group: Inga Plaskocinska, James Drummond, Edward Thompson, Vanessa Buchanan, Barbara Newcombe, Charlotte Hodgkin, Elisa Barter, Paul Ridley, Rita Ng, Suzanne Miller, Adela Dann, Victoria Licence, Hayley Webb, Li Tee Tan, Margaret Daly, Sarah Ayers, Barnaby Rufford, Helena Earl, Christine Parkinson, Timothy Duncan, Mercedes Jimenez-Linan, Gurdeep S. Sagoo, Stephen Abbs and Paul Pharoah. We also thank two anonymous reviewers for their comments and suggestions.

*We would like to thank Alicja Doroszuk for her support in transcribing the data.

This work was supported by Target Ovarian Cancer grant number T005MT. Marc Tischkowitz was supported by funding from the European Union Seventh Framework Program (2007Y2013)/ European Research Council (Grant No. 310018).

Compliance with Ethical Standards

Conflict of Interest

Hannah Shipman, Samantha Flynn, Carey F MacDonald-Smith, James Brenton, Robin Crawford, Marc Tischkowitz and Nicholas J Hulbert-Williams declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Animal Studies

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


  1. Alcalá, H. E. (2014). Differential mental health impact of cancer across racial/ethnic groups: Findings from a population-based study in California. BMC Public Health, 14, 930–938.CrossRefPubMedPubMedCentralGoogle Scholar
  2. Ardern-jones, A., Kenen, R., & Eeles, R. (2005). Too much, too soon? Patients and health professionals’ views concerning the impact of genetic testing at the time of breast cancer diagnosis in women under the age of 40. European Journal of Cancer Care, 14(3), 272–281.CrossRefPubMedGoogle Scholar
  3. Augestad, M. T., Høberg-Vetti, H., Bjorvatn, C., & Sekse, R. J. (2017). Identifying needs: A qualitative study of women’s experiences regarding rapid genetic testing for hereditary breast and ovarian cancer in the DNA BONus study. Journal of Genetic Counseling, 26(1), 182–189.CrossRefPubMedGoogle Scholar
  4. D’Agincourt-Canning, L. (2006). Genetic testing for hereditary breast and ovarian cancer: Responsibility and choice. Qualitative Health Research, 16(1), 97–118.CrossRefPubMedGoogle Scholar
  5. Domchek, S. M., Friebel, T. M., Singer, C. F., Evans, G., Lynch, H. T., Issacs, C., et al. (2010). Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA, 304(9), 967–975.CrossRefPubMedPubMedCentralGoogle Scholar
  6. Faden, R. R., & Beauchamp, T. L. (1986). A history and theory of informed consent. Oxford: Oxford University Press.Google Scholar
  7. Foster, M. W., Royal, C. D., & Sharp, R. R. (2006). The routinisation of genomics and genetics: Implications for ethical practices. Journal of Medical Ethics, 32(11), 635–638.CrossRefPubMedPubMedCentralGoogle Scholar
  8. Gelmon, K. A., Tischkowitz, M., Mackay, H., Swenerton, K., Robidoux, A., Tonkin, K., et al. (2011). Olaparib in patients with recurrent high-grade serous or poorly differentiated ovarian carcinoma or triple-negative breast cancer: A phase 2, multicentre, open-label, non-randomised study. Lancet Oncology, 12(9), 852–861.CrossRefPubMedGoogle Scholar
  9. Giddens, A. (1987). Social theory and modern sociology. Stanford: Stanford University Press.Google Scholar
  10. Gleeson, M., Meiser, B., Barlow-Stewart, K., Trainer, A., Tucker, K, Watts, K., et al. (2013). Communication and information needs of women diagnosed with ovarian cancer regarding treatment-focused genetic testing. Oncology Nursing Forum, 40(3), 275–283.CrossRefPubMedGoogle Scholar
  11. Hallowell, N., Foster, C., Eeles, R., Arden-Jones, A., Murday, V., & Watson, M. (2003). Balancing autonomy and responsibility: The ethics of generating and disclosing genetic information. Journal of Medical Ethics, 29(2), 74–79.CrossRefPubMedPubMedCentralGoogle Scholar
  12. Kauff, N. D., Domchek, S. M., Friebel, T. M., Robson, M. E., Lee, J., Garber, J. E., et al. (2008). Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: A multicenter, prospective study. Journal of Clinical Oncology, 26(8), 1331–1337.CrossRefPubMedPubMedCentralGoogle Scholar
  13. Kvale, S., & Brinkmann, S. (2009). InterViews: Learning the craft of qualitative research interviewing (2nd ed). London: Sage.Google Scholar
  14. Ledermann, J., Harter, P., Gourley, C., Friedlander, M., Vergote, I., Rustin, G., et al. (2012). Olaparib maintenance therapy in platinum-sensitive relapsed ovarian cancer. The New England Journal of Medicine, 366(15), 1382–1392.CrossRefPubMedGoogle Scholar
  15. Ledermann, J., Harter, P., Gourley, C., Friedlander, M., Vergote, I., Rustin, G., et al. (2014). Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: A preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial. Lancet Oncology, 15(8), 852–861.CrossRefPubMedGoogle Scholar
  16. Meiser, B., Gleeson, M., Kasparian, N., Barlow-Stewart, K., Ryan, M., Watts, K., et al. (2012). There is no decision to make: Experiences and attitudes toward treatment-focused genetic testing among women diagnosed with ovarian cancer. Gynecologic Oncology, 124(1), 153–157.CrossRefPubMedGoogle Scholar
  17. Metcalfe, K. A., Fan, I., McLaughlin, J., Risch, H. A., Rosen, B., Murphy, J., et al. (2009). Uptake of clinical genetic testing for ovarian cancer in Ontario: A population-based study. Gynecologic Oncology, 112(1), 68–72.CrossRefPubMedGoogle Scholar
  18. National Institute for Health and Care Excellence. (2016). Olaparib for maintenance treatment of relapsed, platinum-sensitive, BRCA mutation-positive ovarian, fallopian tube and peritoneal cancer after response to second-line or subsequent platinum-based chemotherapy. NICE technology appraisal guidance [TA381].Google Scholar
  19. Pietkiewicz, I., & Smith, J. A. (2012). Praktyczny przewodnik interpretacyjnej analizy fenomenologicznej w badaniach jakościowych w psychologii. Czasopismo Psychologiczne, 18(2), 361–369.Google Scholar
  20. Plaskocinska, I., Shipman, H., Drummond, J., Thompson, E., Buchanan, V., Newcombe, B., et al. (2016). New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: Results of the genetic testing in epithelial ovarian cancer (GTEOC) study. Journal of Medical Genetics, 53(10), 655–661.CrossRefPubMedPubMedCentralGoogle Scholar
  21. Rebbeck, T. R., Kauff, N. D., & Domchek, S. M. (2009). Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. Journal of the National Cancer Institute, 101(2), 80–87.CrossRefPubMedPubMedCentralGoogle Scholar
  22. Rubin, H. J., & Rubin, I. S. (2005). Qualitative interviewing: The art of hearing data. Thousand Oaks: Sage.CrossRefGoogle Scholar
  23. Schlich Bakker, K. J., ten Kroode, H. F. J., Wárlám-Rodenhuis, C. C., Ausems, M. G., & van den Bout, J. (2009). Distress in couples approached for genetic counseling and BRCA1/2 testing during adjuvant radiotherapy. Psycho-Oncology, 18(9), 965–973.CrossRefPubMedGoogle Scholar
  24. Schlich-Bakker, K. J., Wárlám-Rodenhuis, 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(16), 2722–2728.CrossRefPubMedGoogle Scholar
  25. Schlich-Bakker, K. J., Ausems, M. G., Schipper, M., ten Kroode, H. F., Wárlám-Rodenhuis, C. C., & van den Bout, J. (2008). BRCA1/2 mutation testing in breast cancer patients: A prospective study of the long-term psychological impact of approach during adjuvant radiotherapy. Breast Cancer Research and Treatment, 109(3), 507–514.CrossRefPubMedGoogle Scholar
  26. Shinebourne, P. (2011). Interpretative phenomenological analysis. In N. Frost (Ed.), Qualitative Research Methods in Psychology: Combining core approaches (pp. 44–65). Maidenhead: Open University Press.Google Scholar
  27. Smith, J. A., Jarman, M., & Osborn, M. (1999). Doing interpretative phenomenological analysis. In M. Murray & K. Chamberlain (Eds.), Qualitative Health Psychology: Theories and methods. London: Sage.Google Scholar
  28. Smith, J. A., Flowers, P., & Larkin, M. (2009). Interpretive phenomenological analysis: Theory, method and research. London: Sage.Google Scholar
  29. Watts, S., Prescott, P., Mason, J., McLeod, N., & Lewith, G. (2015). Depression and anxiety in ovarian cancer: A systematic review and meta-analysis of prevalence rates. BMJ Open, 5, e007618. doi: 10.1136/bmjopen-2015-007618.CrossRefPubMedPubMedCentralGoogle Scholar
  30. Weavers, M. R., Aaronson, N. K., Verhoef, S., Bleiker, E. M. A., Hahn, D. E. E., Kuenen, M. A., et al. (2014). Impact of rapid genetic counselling and testing on the decision to undergo immediate or delayed prophylactic mastectomy in newly diagnosed breast cancer patients: Findings from a randomised controlled trial. British Journal of Cancer, 110(4), 1081–1087.CrossRefGoogle Scholar
  31. Weavers, M. R., Ausems, M., Verhoef, S., Bleiker, E. M., Hahn, D. E., Brouwer, T., et al. (2016). Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? Results from a randomized clinical trial. Genetics in Medicine, 18(2), 137–144.CrossRefGoogle Scholar
  32. Zhang, S., Royer, R., Li, S., McLaughlin, J. R., Rosen, B., Risch, H. A., et al. (2011). Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Gynecologic Oncology, 121(2), 353–357.CrossRefPubMedGoogle Scholar
  33. Zilliacus, E., Meiser, B., Gleeson, M., Watts, K., Tucker, K., Lobb, E. A., et al. (2012). Are we being overly cautious? A qualitative inquiry into the experiences and perceptions of treatment-focused germline BRCA genetic testing amongst women recently diagnosed with breast cancer. Supportive Care in Cancer, 20(11), 2949–2958.CrossRefPubMedGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2017

Authors and Affiliations

  • Hannah Shipman
    • 1
    • 2
  • Samantha Flynn
    • 3
  • Carey F MacDonald-Smith
    • 3
    • 4
  • James Brenton
    • 5
    • 6
  • Robin Crawford
    • 5
  • Marc Tischkowitz
    • 1
    • 7
  • on behalf of the GTEOC Study Group
  • Nicholas J Hulbert-Williams
    • 3
  1. 1.Department of Medical Genetics and National Institute for Health Research Cambridge Biomedical Research CentreUniversity of CambridgeCambridgeUK
  2. 2.School of EnglishThe University of Hong KongHong KongChina
  3. 3.Chester Research Unit for the Psychology of Health (CRUPH), Department of PsychologyUniversity of ChesterChesterUK
  4. 4.North Wales Cancer Treatment CentreGlan Clwyd HospitalNorth WalesUK
  5. 5.Cancer ServicesCambridge University Hospitals NHS Foundation TrustCambridgeUK
  6. 6.Cancer Research UK Cambridge Research InstituteCambridgeUK
  7. 7.East Anglian Medical Genetics ServiceCambridge University Hospitals NHS Foundation TrustCambridgeUK

Personalised recommendations