Skip to main content

Advertisement

SpringerLink
Log in

Impact of rapid genetic testing for BRCA1 and BRCA2 at time of breast cancer diagnosis on psychosocial functioning

  • Epidemiology
  • Published:
Breast Cancer Research and Treatment Aims and scope Submit manuscript

Abstract

Purpose

Many women are being offered rapid genetic testing (RGT) for cancer predisposition genes, at the time of breast cancer diagnosis prior to surgery. The goal of this study was to determine if psychosocial functioning was affected in women receiving RGT for BRCA1 and BRCA2 at the time of breast cancer diagnosis.

Methods

Participants were women with invasive breast cancer diagnosed between 2013 and 2018, at four centres in Toronto, Canada. Eligible women were referred into the study by their surgeon at the time of diagnosis. Participants received pre-test genetic counselling and were offered RGT for BRCA1 and BRCA2. Standardized questionnaires (Impact of Event Scale and Hospital Anxiety and Depression Scale) were completed before genetic counselling, and follow-up questionnaires at one-week and one-year post-genetic test result disclosure (higher scores indicate higher symptoms).

Results

1007 women had RGT; 60 women (6.0%) were found to have a BRCA1 or BRCA2 mutation, 80 women (7.9%) had a VUS, and 867 (86.1%) had a negative test result. At one-week post-testing, there were no differences in distress (p = 0.32), anxiety (p = 0.14), or depression (p = 0.42) between women with a BRCA1/2 mutation and those with a negative result. At one year, there were no differences in distress (p = 0.75) or anxiety (p = 0.13) between women with a BRCA1 or BRCA/2 mutation and those with a negative result. However, women with a BRCA1 or BRCA2 mutation had significantly lower depression scores compared to women with a negative result (p = 0.03).

Conclusion

For women who have RGT for BRCA1 and BRCA2 at the time of breast cancer diagnosis, identifying a BRCA1 or BRCA2 mutation does not impair psychosocial functioning in the short or long term.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.

Code availability

Available from the corresponding author upon reasonable request.

References

  1. Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N et al (2017) Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 317(23):2402–2416

    Article  CAS  Google Scholar 

  2. Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E, Olopade OI, Eisen A, Weber B, McLennan J et al (2004) Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 22(12):2328–2335

    Article  CAS  Google Scholar 

  3. Metcalfe K, Lynch HT, Ghadirian P, Tung N, Kim-Sing C, Olopade OI, Domchek S, Eisen A, Foulkes WD, Rosen B et al (2011) Risk of ipsilateral breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 127(1):287–296

    Article  CAS  Google Scholar 

  4. Metcalfe K, Gershman S, Lynch HT, Ghadirian P, Tung N, Kim-Sing C, Olopade OI, Domchek S, McLennan J, Eisen A et al (2011) Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Br J Cancer 104(9):1384–1392

    Article  CAS  Google Scholar 

  5. Metcalfe K, Gershman S, Ghadirian P, Lynch HT, Snyder C, Tung N, Kim-Sing C, Eisen A, Foulkes WD, Rosen B et al (2014) Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis. BMJ 348:g226.

  6. Metcalfe KA, Eisen A, Poll A, Candib A, McCready D, Cil T, Wright F, Lerner-Ellis J, McCuaig J, Graham T et al (2021) Rapid genetic testing for BRCA1 and BRCA2 mutations at the time of breast cancer diagnosis: an observational study. Ann Surg Oncol 28(4):2219–2226

    Article  Google Scholar 

  7. Tutt ANJ, Garber JE, Kaufman B, Viale G, Fumagalli D, Rastogi P, Gelber RD, de Azambuja E, Fielding A, Balmana J (2021)Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer. N Engl J Med.

  8. 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 (Engl) 14(3):272–281

    Article  CAS  Google Scholar 

  9. Wevers MR, Ausems MG, Verhoef S, Bleiker EM, Hahn DE, Brouwer T, Hogervorst FB, van der Luijt RB, van Dalen T, Theunissen EB 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. Genet Med 18(2):137–144

    Article  Google Scholar 

  10. Horowitz M, Wilner N, Alvarez W (1979) Impact of Event Scale: a measure of subjective stress. Psychosom Med 41(3):209–218

    Article  CAS  Google Scholar 

  11. Snaith RP (2003) The hospital anxiety and depression scale. Health Qual Life Outcomes 1:29

    Article  Google Scholar 

  12. Zigmond AS, Snaith RP (1983) The hospital anxiety and depression scale. Acta Psychiatr Scand 67(6):361–370

    Article  CAS  Google Scholar 

  13. Stern AF (2014) The hospital anxiety and depression scale. Occup Med (Lond) 64(5):393–394

    Article  Google Scholar 

  14. Bell ML, Fairclough DL, Fiero MH, Butow PN (2016) Handling missing items in the Hospital Anxiety and Depression Scale (HADS): a simulation study. BMC Res Notes 9(1):479

    Article  Google Scholar 

  15. Manahan ER, Kuerer HM, Sebastian M, Hughes KS, Boughey JC, Euhus DM, Boolbol SK, Taylor WA (2019) Consensus guidelines on genetic` testing for hereditary breast cancer from the American Society of Breast Surgeons. Ann Surg Oncol 26(10):3025–3031

    Article  Google Scholar 

  16. Vadaparampil ST, Miree CA, Wilson C, Jacobsen PB (2006) Psychosocial and behavioral impact of genetic counseling and testing. Breast Dis 27:97–108

    Article  Google Scholar 

  17. Lynch H, Lemon S, Durham C, Tinley S, Connolly C, Lynch J, Surdam J, Orinion E, Slominski-Caster S, Watson P et al (1997) A descriptive study of BRCA1 testing and reactions to desclosure of test results. Cancer 79(11):2219–2228

    Article  CAS  Google Scholar 

  18. Schwartz MD, Lerman C, Brogan B, Peshkin BN, Halbert CH, DeMarco T, Lawrence W, Main D, Finch C, Magnant 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  Google Scholar 

  19. Schwartz MD, Peshkin BN, Hughes C, Main D, Isaacs C, Lerman C (2002) Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample. J Clin Oncol 20(2):514–520

    Article  Google Scholar 

  20. Christie J, Quinn GP, Malo T, Lee JH, Zhao X, McIntyre J, Brzosowicz J, Jacobsen PB, Vadaparampil ST (2012) Cognitive and psychological impact of BRCA genetic counseling in before and after definitive surgery breast cancer patients. Ann Surg Oncol 19(13):4003–4011

    Article  Google Scholar 

  21. Andreu Y, Galdon MJ, Dura E, Martinez P, Perez S, Murgui S (2011) A longitudinal study of psychosocial distress in breast cancer: Prevalence and risk factors. Psychology Health.

  22. Katz SJ, Ward KC, Hamilton AS, Abrahamse P, Hawley ST, Kurian AW (2018) Association of germline genetic test type and results with patient cancer worry after diagnosis of breast cancer. JCO Precis Oncol 2018.

  23. Hack TF, Pickles T, Ruether JD, Weir L, Bultz BD, Mackey J, Degner LF (2010) Predictors of distress and quality of life in patients undergoing cancer therapy: impact of treatment type and decisional role. Psychooncology 19(6):606–616

    Article  Google Scholar 

  24. Syrowatka A, Motulsky A, Kurteva S, Hanley JA, Dixon WG, Meguerditchian AN, Tamblyn R (2017) Predictors of distress in female breast cancer survivors: a systematic review. Breast Cancer Res Treat 165(2):229–245

    Article  Google Scholar 

  25. Culver JO, Ricker CN, Bonner J, Kidd J, Sturgeon D, Hodan R, Kingham K, Lowstuter K, Chun NM, Lebensohn AP et al (2021) Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients. Cancer 127(8):1275–1285

    Article  Google Scholar 

  26. Kurian AW, Li Y, Hamilton AS, Ward KC, Hawley ST, Morrow M, McLeod MC, Jagsi R, Katz SJ (2017) Gaps in incorporating germline genetic testing into treatment decision-making for early-stage breast cancer. J Clin Oncol 35(20):2232–2239

    Article  Google Scholar 

  27. Meiser B, Quinn VF, Mitchell G, Tucker K, Watts KJ, Rahman B, Peate M, Saunders C, Geelhoed E, Gleeson M et al (2018) Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family history. Eur J Hum Genet 26(7):972–983

    Article  Google Scholar 

Download references

Acknowledgements

Steven A. Narod is the recipient of a Canada Research Chair (Tier I). This work was supported in part by the Canadian Institutes of Health Research and the Peter Gilgan Centre for Women’s Cancers at Women’s College Hospital, in partnership with the Canadian Cancer Society.

Funding

This study was funded by the Canadian Institutes of Health Research.

Author information

Authors and Affiliations

  1. Lawrence S. Bloomberg Faculty of Nursing, University of Toronto, 155 College Street, Toronto, ON, M5T 1P8, Canada

    Kelly A. Metcalfe & Sarah Brennenstuhl

  2. Women’s College Research Institute, Toronto, ON, Canada

    Kelly A. Metcalfe, Aletta Poll, Alexandra Candib & Steven A. Narod

  3. Sunnybrook Health Sciences Centre, Toronto, ON, Canada

    Andrea Eisen, Frances Wright & Yael Silberman

  4. Princess Margaret Hospital, Toronto, ON, Canada

    David McCready, Tulin Cil & Susan Armel

Authors
  1. Kelly A. Metcalfe
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Andrea Eisen
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Frances Wright
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Aletta Poll
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Alexandra Candib
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. David McCready
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Tulin Cil
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Susan Armel
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Yael Silberman
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Sarah Brennenstuhl
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Steven A. Narod
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

KAM: conceptualization, funding acquisition, investigation, methodology, project administration, supervision, writing—original draft. AE: conceptualization, funding acquisition, project administration, resources, software, writing—review and editing. FW: data curation, writing—review and editing. AP: project administration, writing—review and editing. AC: project administration, writing—review and editing. DM: data curation, writing—review and editing. TC: data curation, writing—review and editing. SA: project administration, writing—review and editing. YS: project administration, writing—review and editing. SB: formal analysis, writing—review and editing. SAN: conceptualization, funding acquisition, project administration, resources, software, writing—review and editing.

Corresponding author

Correspondence to Kelly A. Metcalfe.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

The study was approved by the Women’s College Hospital Ethics Board. The study was performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments.

Consent to participate

Informed consent was obtained from all individual participants included in the study.

Consent for publication

Not applicable.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (DOCX 14 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Metcalfe, K.A., Eisen, A., Wright, F. et al. Impact of rapid genetic testing for BRCA1 and BRCA2 at time of breast cancer diagnosis on psychosocial functioning. Breast Cancer Res Treat 191, 631–641 (2022). https://doi.org/10.1007/s10549-021-06457-4

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10549-021-06457-4

Keywords

Search

Navigation