Exploring Implementation of Personal Breast Cancer Risk Assessments.

Maria A Sierra,Louise Keogh,Jack C W Wheeler,Lisa Devereux,Alison H Trainer

doi:10.3390/jpm11100992

Abstract

Personal Breast Cancer (BC) Risk Assessments (PBCRA) have potential to stratify women into clinically-actionable BC risk categories. As this could involve population-wide genomic testing, women’s attitudes to PBCRA and views on acceptable implementation platforms must be considered to ensure optimal population participation. We explored these issues with 31 women with different BC risk profiles through semi-structured focus group discussions or interviews. Inductive thematic coding of transcripts was performed. Subsequently, women listed factors that would impact on their decision to participate. Participants’ attitudes to PBCRA were positive. Identified themes included that PBCRA acceptance hinges on result actionability. Women value the ability to inform decision-making. Participants reported anxiety, stress, and genetic discrimination as potential barriers. The age at which PBCRA was offered, ease of access, and how results are returned held importance. Most women value the opportunity for PBCRA to inform increased surveillance, while highlighting hesitance to accept reduced surveillance as they find reassurance in regular screening. Women with BRCA pathogenic variants value the potential for PBCRA to identify a lower cancer risk and potentially inform delayed prophylactic surgery. This study highlights complexities in adopting advances in BC early detection, especially for current users who value existing processes as a social good.

Highlights

Breast cancer (BC) is a heterogeneous disease, comprising cancers with markedly different prognostic and predictive characteristics [1]
One focus group comprising three women with a strong family history of breast cancer but no pathogenic variant identified through germline genetic testing, recruited from the Parkville Familial Cancer Centre (PFCC)
The results from this study are novel as we have been able to compare and contrast the views of women across the Breast Cancer (BC) risk continuum from women with previously identified BRCA1 and BRCA2 pathogenic variants in the familial cancer clinics (FCC) setting, to those participating in the Australian national population breast cancer screening programs (NBSP), BreastScreen Australia, recruited through LifePool

Summary

Introduction

Breast cancer (BC) is a heterogeneous disease, comprising cancers with markedly different prognostic and predictive characteristics [1]. PRS, in addition to other lifestyle and physiological risk factors, can be used to assign personalized BC risk assessments (PBCRA) using multifactorial clinical models such as CANRISK irrespective of family history of the disease [8,9]. This approach provides personal modified risk assessments to women with pathogenic variants in moderate or high-risk genes identified through family-based genetic testing in familial cancer clinics (FCC), or through nascent BRCA population screening studies [10,11]

Methods

Results

Conclusion