Skip to main content

Advertisement

SpringerLink
Log in

Women’s responses and understanding of polygenic breast cancer risk information

  • Original Article
  • Published:
Familial Cancer Aims and scope Submit manuscript

Abstract

It is estimated that polygenic factors can explain up to 18% of familial breast cancer. Clinical implementation of polygenic testing has begun, with several commercial laboratories now testing. Despite commercial implementation, there is little research investigating how women respond and understand polygenic risk information. This study aimed to explore women’s experience receiving their personalised polygenic risk score (PRS) and compare responses of women at different levels of polygenic risk. Eligible participants were affected and unaffected women from families clinically assessed to be at high risk for breast cancer who had received their personalised PRS as part of the Variants in Practice Psychosocial Study (ViPPs). In-depth semi-structured interviews were conducted with 21 women (mean age 53.4 years) up to four weeks after receiving their PRS. Interviews were transcribed verbatim and analysed using thematic analysis. Eleven women received a PRS that was in the top quartile of PRS distribution and 10 in the lowest quartile. Women’s lived experience with breast cancer informed how they responded to their PRS, constructed and made sense of breast cancer risk following receipt of their PRS, and integrated this new information into their breast cancer risk management. Regardless of polygenic risk level, all participants demonstrated broad knowledge of concepts related to polygenic information and were able to accurately describe the implications of their PRS. Receiving PRS did not appear to negatively impact women’s reported distress levels. Our findings suggest polygenic breast cancer information is well received and understood by women at high-risk for breast cancer.

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

Similar content being viewed by others

References

  1. Bahcall O (2013) Common variation and heritability estimates for breast, ovarian and prostate cancers. Nat Genet 35:23–25

    Google Scholar 

  2. Michailidou K et al (2017) Association analysis identifies 65 new breast cancer risk loci. Nature 551(7678):92–94

    PubMed  PubMed Central  Google Scholar 

  3. Michailidou K et al (2015) Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Nat Genet 47(4):373–380

    CAS  PubMed  PubMed Central  Google Scholar 

  4. Mavaddat N et al (2015) Prediction of breast cancer risk based on profiling with common genetic variants. J Natl Cancer Inst 107(5):036

    Google Scholar 

  5. Sawyer S et al (2012) A role for common genomic variants in the assessment of familial breast cancer. J Clin Oncol 30(35):4330–4336

    PubMed  Google Scholar 

  6. Mavaddat N et al (2019) Polygenic risk scores for prediction of breast cancer and breast cancer subtypes. Am J Hum Genet 104(1):21–34

    CAS  PubMed  Google Scholar 

  7. Black M et al (2018) Validation of a polygenic risk score for breast cancer in unaffected caucasian women referred for genetic testing. J Clin Oncol 36:1508

    Google Scholar 

  8. Hughes E et al (2017) Development and validation of a residual risk score to predict breast cancer risk in unaffected women negative for mutations on a multi-gene hereditary cancer panel. J Clin Oncol 35:1579–1579

    Google Scholar 

  9. Young MA et al (2018) Making sense of SNPs: women's understanding and experiences of receiving a personalized profile of their breast cancer risks. J Genet Counsel 27(3):702–708

    Google Scholar 

  10. Forrest LE et al (2018) High-risk women’s risk perception after receiving personalized polygenic breast cancer risk information. J Community Genet 10:197–208

    PubMed  PubMed Central  Google Scholar 

  11. Bancroft EK et al (2015) The psychological impact of undergoing genetic-risk profiling in men with a family history of prostate cancer. Psychooncology 24(11):1492–1499

    PubMed  Google Scholar 

  12. Bancroft EK et al (2014) It's all very well reading the letters in the genome, but it's a long way to being able to write": men's interpretations of undergoing genetic profiling to determine future risk of prostate cancer. Fam Cancer 13(4):625–635

    CAS  PubMed  Google Scholar 

  13. Variants in Practice (VIP) (2019) https://www.petermac.org/research/clinical-research-trials/clinical-research/familial-cancer-research-centre/vip-variants

  14. Yanes T et al (2017) Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study. BMC Cancer 17(1):491

    PubMed  PubMed Central  Google Scholar 

  15. Yanes T et al (2020) Uptake of polygenic risk information among women at increased risk of breast cancer. Clin Genet 97(3):492–501

    CAS  PubMed  Google Scholar 

  16. Kaur R et al (2018) Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk. Fam Cancer 18:147–152

    Google Scholar 

  17. Liamputtong P (2013) (2013) Qualitative research methods, 4th edn. Oxford University Press, South Melbourne

    Google Scholar 

  18. Braun V, Clarke V (2006) Using thematic analysis in psychology. Qualitative Research in Psychology 3(2):77–101

    Google Scholar 

  19. Nvivo Qualitative data analysis software. 2016, QSR International Pty Ltd.

  20. Smit AK et al (2015) Exploring the potential emotional and behavioural impact of providing personalised genomic risk information to the public: a focus group study. Public Health Genom 18(5):309–317

    Google Scholar 

  21. Leventhal K-G et al (2013) “Is it really worth it to get tested?”: primary care patients’ impressions of predictive SNP testing for colon cancer. J Genet Counsel 22(1):138–151

    Google Scholar 

  22. Cox DG et al (2018) Transmission of breast cancer polygenic risk based on single nucleotide polymorphisms. Breast 41:14–18

    PubMed  Google Scholar 

  23. Lakeman IMM et al (2019) Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families. J Med Genet 56:581–589

    CAS  PubMed  Google Scholar 

  24. Lee A et al (2019) BOADICEA: a comprehensive breast cancer risk prediction modelincorporating genetic and nongenetic risk factors. Genetics in Medicine 21(8):1708–1718

    PubMed  PubMed Central  Google Scholar 

  25. Hesse-Biber S (2014) The genetic testing experience of BRCA-positive women: deciding between surveillance and surgery. Qual Health Res 24(6):773–789

    PubMed  Google Scholar 

  26. McAllister M (2003) Personal theories of inheritance, coping strategies, risk perception and engagement in hereditary non-polyposis colon cancer families offered genetic testing. Clin Genet 64(3):179–189

    CAS  PubMed  Google Scholar 

  27. Nusbaum R et al (2013) Translational genomic research: Protocol development and initial outcomes following SNP testing for colon cancer risk. Transl Behav Med 3(1):17–29

    PubMed  Google Scholar 

  28. d'Agincourt-Canning L (2005) The effect of experiential knowledge on construction of risk perception in hereditary breast/ovarian cancer. J Genet Couns 14(1):55–69

    PubMed  Google Scholar 

  29. Meisel SF et al (2015) Adjusting the frequency of mammography screening on the basis of genetic risk: attitudes among women in the UK. Breast 24(3):237–241

    PubMed  PubMed Central  Google Scholar 

  30. Henneman L et al (2011) 'A low risk is still a risk': exploring women's attitudes towards genetic testing for breast cancer susceptibility in order to target disease prevention. Public Health Genom 14(4–5):238–247

    CAS  Google Scholar 

  31. Yanes T et al (2019) Uptake of polygenic risk information among women at increased risk of breast cancer. Clin Genet 97:492–501

    PubMed  Google Scholar 

  32. Armstrong K et al (2003) Early adoption of BRCA1/2 testing: who and why. Genet Med 5(2):92–98

    PubMed  Google Scholar 

  33. Facio FM et al (2011) Motivators for participation in a whole-genome sequencing study: implications for translational genomics research. Eur J Hum Genet 19(12):1213–1217

    CAS  PubMed  PubMed Central  Google Scholar 

  34. Yanes T et al (2020) Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field. Breast Cancer Res 22(1):21

    PubMed  PubMed Central  Google Scholar 

  35. Shieh Y et al (2017) Breast cancer screening in the precision medicine era: risk-based screening in a population-based trial. J Natl Cancer Inst 109(5):290

    Google Scholar 

  36. Esserman LJ et al (2017) The WISDOM Study: breaking the deadlock in the breast cancer screening debate. NPJ Breast Cancer 3(1):34

    PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

We thank all the women who gave their time to participate in the study. We also thank all the clinicians at the FCCs for accommodating this study and arranging appointments for participants to receive their PRS.

Funding

This study is supported by a Grant from the Cancer Council of New South Wales (ID: 1079897). TY is supported by a National Health and Medical Research Council (NHMRC) and National Breast Cancer Foundation postgraduate scholarship (ID: 1133049), and a Translational Cancer Research Institute PhD Top-up Scholarship. BM is supported by an NHMRC Senior Research Fellowship Level B (ID: 1078523).

Author information

Authors and Affiliations

  1. Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, 2052, Australia

    T. Yanes, R. Kaur & B. Meiser

  2. The University of Queensland Diamantina Institute, Dermatology Research Centre, The University of Queensland, Brisbane, QLD, 4102, Australia

    T. Yanes

  3. Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Melbourne, VIC, 3000, Australia

    M. Scheepers-Joynt, S. McInerny, P. A. James & M. A. Young

  4. Northern Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2065, Australia

    K. Barlow-Stewart

  5. Family Cancer Clinic, Cabrini Health, Melbourne, VIC, 3144, Australia

    Y. Antill

  6. Clinical Genetics Service, Austin Hospital, Melbourne, VIC, 3084, Australia

    L. Salmon

  7. Family Cancer Clinic, Monash Medical Centre, Melbourne, VIC, 3168, Australia

    C. Smyth

  8. Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, 3052, Australia

    P. A. James

  9. Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, 2010, Australia

    M. A. Young

Authors
  1. T. Yanes
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. R. Kaur
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. B. Meiser
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. M. Scheepers-Joynt
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. S. McInerny
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. K. Barlow-Stewart
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Y. Antill
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. L. Salmon
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. C. Smyth
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. P. A. James
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. M. A. Young
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to T. Yanes.

Ethics declarations

Conflict of interest

Prof. Bettina Meiser has a remunerated consultant role with the company Astrazeneca with respect to an unrelated project.

Additional information

Publisher's Note

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

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Yanes, T., Kaur, R., Meiser, B. et al. Women’s responses and understanding of polygenic breast cancer risk information. Familial Cancer 19, 297–306 (2020). https://doi.org/10.1007/s10689-020-00185-2

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-020-00185-2

Keywords

Search

Navigation