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<p>The clinical implementation of polygenic risk scores (PGS) in comprehensive cancer risk assessments is imminent. The successful implementation relies on clear communication to consumers to facilitate understanding of personalised risk information and motivate cancer prevention behaviours. Development of provider- and consumer-friendly resources to aid communication and understanding of PGS results is a critical implementation task. This study aimed to produce an acceptable report for delivering comprehensive, PGS-informed breast cancer risk assessments in research and clinical settings. A two-phase, multi-methods research program was conducted, focusing on co-design with a broad group of interest holders to gather preferences and feedback on the content, layout and visual tools of a risk report. Phase 1 involved a literature review, a quantitative survey with consumers and qualitative interviews with consumers and medical practitioners to generate an initial prototype report. Phase 2 involved qualitative interviews with genetic counsellors to seek feedback about the prototype and refine it into a final version. The report was operationalised as a web-based application that generates personalised versions in PDF. The evidence-based, interest-holder-informed comprehensive breast cancer risk report produced is highly usable, able to support ongoing clinical implementation research on PGS across cancer use-cases and contexts. Future work should explore consumer evaluation of the report and the feasibility of interactive and digital delivery mechanisms.</p>

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The co-design, development, and preliminary evaluation of a comprehensive breast cancer risk report incorporating polygenic risk information

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年7月31日

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  • Mia N. Hanley,
  • Rebecca Purvis,
  • Sharne Limb,
  • Sibel Saya,
  • Adrian Bickerstaffe,
  • Jack Wheeler,
  • Yuhan Shen,
  • Matilda Hilton,
  • Minchen Dai,
  • Edbert Liu,
  • Rowan Forbes Shepherd,
  • Paul A. James,
  • Laura E. Forrest

摘要

The clinical implementation of polygenic risk scores (PGS) in comprehensive cancer risk assessments is imminent. The successful implementation relies on clear communication to consumers to facilitate understanding of personalised risk information and motivate cancer prevention behaviours. Development of provider- and consumer-friendly resources to aid communication and understanding of PGS results is a critical implementation task. This study aimed to produce an acceptable report for delivering comprehensive, PGS-informed breast cancer risk assessments in research and clinical settings. A two-phase, multi-methods research program was conducted, focusing on co-design with a broad group of interest holders to gather preferences and feedback on the content, layout and visual tools of a risk report. Phase 1 involved a literature review, a quantitative survey with consumers and qualitative interviews with consumers and medical practitioners to generate an initial prototype report. Phase 2 involved qualitative interviews with genetic counsellors to seek feedback about the prototype and refine it into a final version. The report was operationalised as a web-based application that generates personalised versions in PDF. The evidence-based, interest-holder-informed comprehensive breast cancer risk report produced is highly usable, able to support ongoing clinical implementation research on PGS across cancer use-cases and contexts. Future work should explore consumer evaluation of the report and the feasibility of interactive and digital delivery mechanisms.