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Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family history

European Journal of Human Geneticsvolume 26pages972983 (2018) | Download Citation


In patients with early breast cancer, personal and tumour characteristics other than family history are increasingly used to prompt genetic testing to guide women’s cancer management (treatment-focused genetic testing, ‘TFGT’). Women without a known strong family history of breast and/or ovarian may be more vulnerable to psychological sequelae arising from TFGT. We compared the impact of TFGT in women with (FH+) and without (FH−) a strong family history on psychological adjustment and surgical decisions. Women aged <50 years with high-risk features were offered TFGT before definitive breast cancer surgery and completed self-report questionnaires at four time points over 12 months. All 128 women opted for TFGT. TFGT identified 18 carriers of a disease-causing variant (50.0% FH+) and 110 non-carriers (59.1% FH+). There were no differences based on family history in bilateral mastectomy (BM) uptake, p = .190, or uptake of risk-reducing bilateral salpingo-oophorectomy (RRBSO), p = .093. FH− women had lower decreases in anxiety a year after diagnosis, p = .011, and regret regarding their decision whether to undergo BM, p = .022, or RRBSO, p = .016 than FH + women. FH− carriers reported significantly higher regret regarding their TFGT choice (p = .024) and test-related distress (p = .012) than FH + carriers, but this regret/distress could not be attributed to a concern regarding a possible worse prognosis. These findings indicate that FH− women may require additional counselling to facilitate informed decisions. Carriers without a family history may require additional follow-up counselling to facilitate psychological adjustment to their positive variant results, extra support in making surgical decisions, and counselling about how best to communicate results to family members.

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We thank the patients who generously participated in this study. We also gratefully acknowledge the assistance of the staff who were involved at each site. Thank you also to Mariana Souza for research assistance. We also acknowledge the support and endorsement of this project by the Psycho-oncology Cooperative Research Group (PoCoG). This trial was funded by a Priority-Driven Collaborative Research Grant, which was jointly supported by Cancer Australia, Cancer Council Australia and the National Breast Cancer Foundation (ID 630405). Bettina Meiser was supported by a Career Development Fellowship Award Level 2 (ID 1003921) from the National Health and Medical Research Council (NHMRC) of Australia and an NHMRC Senior Research Fellowship Level B (ID 1078523). Michelle Peate is currently supported by a National Breast Cancer Foundation Early Career Fellowship (ECF-15-005).

TFGT Collaborative Group

The additional members of the Treatment FocusedGenetic Testing Collaborative Group are: Cabrini Health Melbourne (P. Gregory, L.Lipton, L. McKay, J. Senior); Department of Medical Oncology, Prince of WalesHospital (P. Crowe, A. Matthews, G. Neil, A. Parasyn, D. Thomson); HereditaryCancer Clinic, Prince of Wales Hospital, Sydney (J. Duffy, L. Andrews, J. Gale);Monash Medical Centre, Melbourne (J. Fox, S. Hart, C. Smythe, M. White);Nambour Hospital, Nambour (L. Creighton, J. D’arcy, S. Grieve, E. Secomb); PeterMacCallum Cancer Centre, Melbourne (M. Henderson, J. O’Brien, C. Poliness);Royal Brisbane Hospital (A. Hattam, R. Susman, O. Ung,); Royal North ShoreHospital, Sydney (R. Dickson, K. Moore); St George Hospital, Sydney (P. Bastick, S.Inder, J. Lynch, P. Schwartz, R. Zia); The Poche Centre, Sydney (C. Mak, K. Snook,A. Spillane); University of Melbourne (J. Hopper); Westmead Hospital, Sydney (M.Bowman, D. Cheung, S. Edirimanne, E. Edwards, E. Elder, J. French, D. Moon).

Author information

Author notes


    1. Prince of Wales Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, NSW, 2052, Australia

      • Bettina Meiser
      • , Veronica F. Quinn
      • , Kaaren J. Watts
      • , Belinda Rahman
      • , Michelle Peate
      •  & Llew Mills
    2. Sir Peter MacCallum Dept of Oncology, Melbourne University, Melbourne, VIC, 3010, Australia

      • Gillian Mitchell
    3. Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, 3002, Australia

      • Gillian Mitchell
    4. Hereditary Cancer Clinic; Department of Medical Oncology, Prince of Wales Hospital, High Street, Randwick, NSW, 2031, Australia

      • Kathy Tucker
    5. Obstetrics and Gynaecology, Royal Women’s Hospital, University of Melbourne, Melbourne, VIC, 3052, Australia

      • Michelle Peate
    6. School of Surgery, University of Western Australia, Crawley, WA, 6009, Australia

      • Christobel Saunders
    7. School of Population Health, University of Western Australia, Crawley, WA, 6009, Australia

      • Elizabeth Geelhoed
    8. Hunter Family Cancer Service, Waratah, NSW, 2298, Australia

      • Margaret Gleeson
    9. Sydney Medical School-Northern, University of Sydney, Sydney, NSW, 2006, Australia

      • Kristine Barlow-Stewart
    10. Royal North Shore Hospital, St Leonards, NSW, 2065, Australia

      • Michael Field
    11. Monash Health, Clayton, Victoria, 3168, Australia

      • Marion Harris
    12. Familial Cancer Centre, Cabrini Health, Melbourne, VIC, 3144, Australia

      • Yoland C. Antill
    13. Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Herston, QLD, 4029, Australia

      • Rachel Susman
    14. School of Psychology, University of Sydney, Sydney, NSW, 2006, Australia

      • Michael T. Bowen
    15. Brain and Mind Centre, University of Sydney, Sydney, NSW, 2006, Australia

      • Michael T. Bowen
    16. Familial Cancer Service, Westmead Hospital, Hawkesbury Road, Westmead, NSW, 2145, Australia

      • Judy Kirk
    17. Centre for Cancer Research, Westmead Institute for Medical Research, University of Sydney, Westmead, NSW, 2145, Australia

      • Judy Kirk


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    1. for the TFGT Collaborative Group

      Conflict of interest

      BM, KT and MG have remunerated consultant roles with the company Astrazeneca with respect to unrelated projects. The remaining authors declare that they have no competing intersts.

      Corresponding author

      Correspondence to Bettina Meiser.

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