High-risk women’s risk perception after receiving personalized polygenic breast cancer risk information

  • Laura Elenor Forrest
  • Sarah Dilys Sawyer
  • Nina Hallowell
  • Paul Andrew James
  • Mary-Anne Young
Original Article


Evidence is accumulating of the clinical utility of single nucleotide polymorphisms to effectively stratify risk of breast cancer. Yet for this personalized polygenic information to be translated to clinical practice, consideration is needed about how this personalized risk information should be communicated and the impact on risk perception. This study examined the psychosocial implications and the impact on risk perception of communicating personalized polygenic breast cancer risk to high-risk women. High-risk women with a personal history of breast cancer and an uninformative BRCA1/2 result were genotyped in the Variants in Practice study for 22 breast cancer single nucleotide polymorphisms. Participants in the highest quartile of polygenic breast cancer risk were invited to receive their individual research results. Two personalized visual risk communication tools were used to facilitate communication of the polygenic information. Participants subsequently undertook a semi-structured interview examining their experience of receiving their polygenic breast cancer risk and their breast cancer risk perception. Thirty-nine women opted to receive their results and were interviewed. The women described the risk communication tools as helpful as the tool enabled comparison of their personalized breast cancer risk to the general population. Participants incorporated the polygenic risk information into their breast cancer risk perception, which for some reawakened feelings of being at risk years after an uninformative BRCA1/2 result. However, few reported any detrimental emotional impact. The delivery of personalized polygenic breast cancer risk to high-risk women informed and modified their breast cancer risk perception with little emotional impact.


Breast cancer risk Polygenic risk Single nucleotide polymorphism Risk perception Psychosocial 



The authors would like to acknowledge all the women who took part in this study and gave their time so generously to participate in an interview. We would also like to acknowledge and thank the team in the Parkville Familial Cancer Centre at Peter MacCallum Cancer Centre for accommodating the processes involved in this study. Many thanks to Rowan Forbes Shepherd, Maatje Scheepers-Joynt, and Victoria Rasmussen for their feedback on the manuscript.


Dr. Laura Forrest is funded by a postdoctoral fellowship from the National Breast Cancer Foundation, Australia.

Compliance with ethical standards

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

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

Conflict of interest

The authors declare that they have no conflicts of interest.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Parkville Familial Cancer CentrePeter MacCallum Cancer CentreMelbourneAustralia
  2. 2.Sir Peter MacCallum Department of OncologyThe University of MelbourneParkvilleAustralia
  3. 3.Department of PathologyThe University of MelbourneParkvilleAustralia
  4. 4.Ethox Centre, Nuffield Department of Population HealthUniversity of OxfordOxfordUK
  5. 5.The Garvan Institute of Medical ResearchSydneyAustralia

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