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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

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Abstract

Purpose

Women with breast cancer, who are found to be BRCA1/2 mutation carriers, have a high risk of ovarian cancer and metachronous breast cancer. Treatment-focused genetic testing (TFGT), offered around the time of diagnosis, allows genetic test results to inform surgical treatment decisions. However, concern has been raised that offering TFGT at this time may overly increase psychological burden. This study aimed to qualitatively explore women’s attitudes and experiences of TFGT.

Methods

Women who had been diagnosed with breast cancer at age 50 years or less undertook a semi-structured telephone interview (n = 26). The sample included women who had been offered TFGT, based on family history and/or other risk criteria (n = 14), and women who had been diagnosed within the past 6–12 months and had not been offered TFGT (n = 12). Interviews explored women’s attitudes towards TFGT, perceived benefits and disadvantages, implications of TFGT and impact on surgical decision making. Interviews were transcribed verbatim and thematically analysed.

Results

Women expressed positive attitudes towards TFGT and felt it was highly relevant to their surgical decision making. They did not feel that an offer of TFGT shortly after, or at the time of diagnosis, added undue psychological burden. The majority of women interviewed felt that TFGT should be incorporated into standard clinical care.

Conclusions

TFGT is viewed favourably by women newly diagnosed with breast cancer. Future randomized controlled trials are needed to examine the long-term impact of TFGT. We conclude that an offer of TFGT is not perceived as ‘too much, too soon’ by relevant patients.

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References

  1. Lalloo F et al (2003) Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet 361:1101

    Article  PubMed  CAS  Google Scholar 

  2. Choi D et al (2004) Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients. J Clin Oncol 22(9):1638–1645

    Article  PubMed  CAS  Google Scholar 

  3. Loman N et al (2001) Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset cancer. J Nat Cancer Inst 93:1215–1223

    Article  PubMed  CAS  Google Scholar 

  4. Martinez-Ferrandis J et al (2003) Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations. Hum Mutat 22(5):417–418

    Article  PubMed  CAS  Google Scholar 

  5. Rubenstein W (2008) Hereditary breast cancer: pathobiology, clinical translation, and potential for targeted cancer therapeutics. Fam Cancer 7(1):83–89

    Article  Google Scholar 

  6. Silva E (2008) Genetic counselling and clinical management of newly diagnosed breast cancer patients at genetic risk for BRCA germline mutations: perspective of a surgical oncologist. Familial Cancer 7:91–95

    Article  PubMed  Google Scholar 

  7. Domcheck S, Weber B (2006) Clinical management of BRCA1 and BRCA2 mutation carriers. Oncogene 25:5825–5831

    Article  Google Scholar 

  8. Narod S, Orrit K (2005) Prevention and management of hereditary breast cancer. J Clin Oncol 23:1656–1663

    Article  PubMed  Google Scholar 

  9. Pierce L, Strawderman M, Narod S (2000) Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations. J Clin Oncol 18:3360–3369

    PubMed  CAS  Google Scholar 

  10. Hartmann L et al (1999) Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 340(2):77–84

    Article  PubMed  CAS  Google Scholar 

  11. Schwartz M (2005) Contralateral prophylactic mastectomy: efficacy, satisfaction, and regret. J Clin Oncol 23(31):7777–7779

    Article  PubMed  Google Scholar 

  12. Eisen A et al (2000) Prophylactic surgery in women with a hereditary predisposition to breast and ovarian cancer. J Clin Oncol 18(9):1980–1995

    PubMed  CAS  Google Scholar 

  13. Kauff ND, Satogopan JM, Robson ME (2002) Risk-reducing salpingo-oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 346(21):1609–1615

    Article  PubMed  Google Scholar 

  14. Schwartz C et al (2004) Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. J Clin Oncol 22(10):1823–1829

    Article  PubMed  Google Scholar 

  15. Meiser B et al (2008) Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda. Breast Cancer Res 10(6):216

    Article  PubMed  Google Scholar 

  16. Palomares M, Paz B, Weitzel J (2005) Genetic cancer risk assessment in the newly diagnosed breast cancer patient is useful and possible in practice. J Clin Oncol 23(13):3165–3166

    Article  PubMed  Google Scholar 

  17. Weitzel J et al (2003) Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis. Arch Surg 138:1323–1328

    Article  PubMed  Google Scholar 

  18. Stolier A et al (2004) Initial experience with surgical treatment planning in the newly diagnosed breast cancer patient at high risk for BRCA1 or BRCA2 mutation [see comment]. Breast J 10:475–480

    Article  PubMed  Google Scholar 

  19. Schwartz M et al (2005) Utilization of BRCA1/BRCA2 mutation testing in newly diagnosed breast cancer patients. Cancer Epidemiol Biomarkers Prev 14(4):1003–1007

    Article  PubMed  CAS  Google Scholar 

  20. Schlich-Bakker KJ et al (2006) Short term psychological distress in patients actively approached for genetic counselling after diagnosis of breast cancer. Eur J Cancer 42(16):2722–2728

    Article  PubMed  Google Scholar 

  21. Schlich-Bakker KJ et al (2007) Barriers to participating in genetic counseling and BRCA testing during primary treatment for breast cancer. Genet Med 9(11):766–777

    Article  PubMed  Google Scholar 

  22. NHMRC (1999) Clinical practice guidelines: familial aspects of cancer: a guide to clinical practice. NHMRC, Canberra

    Google Scholar 

  23. Australian Commonwealth Department of Health and Ageing (2008) Private Health Insurance Administration Council. October 10, 2008. Available from http://www.phiac.gov.au/

  24. Meiser B et al (2011) Getting to the point: what women newly diagnosed with breast cancer want to know about treatment-focused genetic testing. Oncol Nurs Forum 39(2):E101–E111

    Google Scholar 

  25. Miles M, Huberman M (1984) Qualitative data analysis: a sourcebook for new methods. Sage, Beverly Hills

    Google Scholar 

  26. Denzin JM, Lincoln YS (eds) (1994) Handbook of qualitative research. Sage, London

    Google Scholar 

  27. Wood M et al (2000) Impact of BRCA1 testing on women with cancer: a pilot study. Genet Test 4(3):265–272

    Article  PubMed  CAS  Google Scholar 

  28. van Roosmalen M et al (2004) Impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer. Am J Med Genet 124:346–355

    Article  Google Scholar 

  29. 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. Eur J Cancer Care 14:272–281

    Article  CAS  Google Scholar 

  30. Vadaparampil ST et al (2011) Satisfaction with physician recommendation for and information about genetic counselling among breast cancer patients. The Breast J 17(1):79–82

    Article  Google Scholar 

  31. Lobb E et al (2010) Treatment focussed DNA testing in newly diagnosed cancer patients: some implications for clinical practice. Clin Gen 77(4):350–354

    Article  CAS  Google Scholar 

  32. Schlich-Bakker KJ et al (2008) BRCA 1/2 mutation testing in breast cancer patients: a prospective study of the long-term psychological impact of approach during adjuvant radiotherapy. Breast Cancer Res Treat 109(3):507–514

    Article  PubMed  CAS  Google Scholar 

  33. Tercyak KP et al (2007) Quality of life after contralateral prophylactic mastectomy in newly diagnosed high-risk breast cancer patients who underwent BRCA1/2. J Clin Oncol 25(3):285–291

    Article  PubMed  Google Scholar 

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Acknowledgments

We are very grateful to the women who participated in this study and so generously shared their views. We would also like to thank Assoc Prof Kristine Barlow-Stewart, Professor Christobel Saunders and A/Professor Judy Kirk for their valuable input into this study and assistance with ascertaining participants. This research was supported by a Fellowship Enhancement Fund to A/Professor Bettina Meiser from the University of New South Wales. Associate Professor Bettina Meiser is supported by a Career Development Award from the National Health and Medical Research Council of Australia and a Cancer Institute New South Wales Career Development Fellowship. We acknowledge the support and endorsement of the Psycho-oncology Cooperative Research Group (PoCoG) for this project.

Conflict of interest

The authors have no conflicts of interest, financial or otherwise, to declare.

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Authors and Affiliations

  1. Psychosocial Research Group, Department of Medical Oncology, Prince of Wales Hospital, Sydney, NSW, Australia

    E. Zilliacus, B. Meiser, M. Gleeson & K. Watts

  2. Prince of Wales Clinical School, The University of New South Wales, Sydney, NSW, Australia

    E. Zilliacus, B. Meiser & K. Watts

  3. Hunter Genetics, Newcastle, NSW, Australia

    M. Gleeson

  4. Department of Medical Oncology, Prince of Wales Hospital, Randwick, NSW, 2031, Australia

    K. Tucker

  5. Calvary Health Care Sydney, Kogarah, NSW, 2271, Australia

    E. A. Lobb

  6. Familial Cancer Service, Peter McCallum Cancer Centre, Melbourne, VIC, Australia

    G. Mitchell

  7. Psychosocial Research Group, Dickinson 3, Prince of Wales Hospital, Randwick, NSW, 2031, Australia

    B. Meiser

Authors
  1. E. Zilliacus
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  2. B. Meiser
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  3. M. Gleeson
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  4. K. Watts
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  5. K. Tucker
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  6. E. A. Lobb
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  7. G. Mitchell
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Corresponding author

Correspondence to B. Meiser.

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Zilliacus, E., Meiser, B., Gleeson, M. et al. 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. Support Care Cancer 20, 2949–2958 (2012). https://doi.org/10.1007/s00520-012-1427-6

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  • DOI: https://doi.org/10.1007/s00520-012-1427-6

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