Considering Clinical Implementation of Polygenic Scores in Hereditary Cancer Risk Assessment: Recipients' Perspectives on Influencing Factors and Strategies.

IF 3.1 3区医学 Q1 HEALTH CARE SCIENCES & SERVICES

Patient-Patient Centered Outcomes Research Pub Date : 2025-06-28 DOI:10.1007/s40271-025-00747-5

Rebecca Purvis, Natalie Taylor, Paul James, Mary-Anne Young, Laura E Forrest

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引用次数: 0

Abstract

Background: Polygenic scores (PGS) capture a proportion of the genomic liability for cancer in unselected and high-risk cohorts, with meaningful application in improving risk-stratified screening and management. However, there are significant evidence gaps regarding future clinical implementation. Despite being key interest-holders, recipient views are underrepresented. The objective of this study was to explore recipients' views on the clinical implementation of PGS for hereditary cancer risk assessment in Australian cancer genetics clinics.

Methods: Three video-conferenced focus groups were conducted with recipients who had been given their breast and ovarian cancer PGS through the PRiMo trial. Nominal Group Technique was used to enable evaluation of implementation determinants and strategies, and priority setting. Descriptive and deductive content analyses were conducted utilising the Consolidated Framework for Implementation Research and the Expert Recommendations for Implementing Change compilation of facilitative strategies.

Results: Participants (N = 10) were female, with an average age of 36 years (range 18-70 years). Of these, 50% (N = 5) experienced a change in their hereditary cancer risk assessment due to their PGS. Participants prioritised the positive value and impact of PGS, and the behavioural characteristics of recipients, notably their knowledge and expectations of PGS and cancer genetics clinics, as major determinants of implementation success. Implementation strategies that prepared and supported recipients to access, engage, and use PGS were emphasised, with a focus on a clear results report, educational resources, in-clinic resources, and delivery of ongoing good clinical follow-up.

Conclusion: Evidence-based strategies should be deployed to address recipients' priority barriers to the clinical implementation of PGS for hereditary cancer risk assessment. Centralising recipient voices in implementation design will improve effectiveness and success.

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考虑多基因评分在遗传性癌症风险评估中的临床实施：接受者对影响因素和策略的看法

背景：多基因评分（PGS）在未选择和高风险人群中捕获了一部分癌症的基因组易感性，在改善风险分层筛查和管理方面具有重要意义。然而，关于未来的临床实施，存在显著的证据差距。尽管是关键的利益相关者，但接受者的观点没有得到充分代表。本研究的目的是探讨接受者对PGS在澳大利亚癌症遗传学诊所用于遗传性癌症风险评估的临床实施的看法。方法：三个视频会议焦点小组与通过PRiMo试验给予乳腺癌和卵巢癌PGS的接受者进行了讨论。使用名义组技术对实施决定因素和策略进行评估，并设置优先级。利用《实施研究综合框架》和《实施变革专家建议》的促进战略汇编，进行了描述性和演绎性内容分析。结果：参与者（N = 10）为女性，平均年龄36岁（18-70岁）。其中，50% （N = 5）的人由于PGS而改变了他们的遗传性癌症风险评估。参与者优先考虑PGS的积极价值和影响，以及接受者的行为特征，特别是他们对PGS和癌症遗传学诊所的知识和期望，作为实施成功的主要决定因素。强调了准备和支持接受者获取、参与和使用PGS的实施策略，重点是明确的结果报告、教育资源、临床资源和持续良好临床随访的交付。结论：应采取循证策略，解决患者在临床应用PGS进行遗传性癌症风险评估时的优先障碍。在实施设计中集中接受者的声音将提高效率和成功。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Patient-Patient Centered Outcomes Research HEALTH CARE SCIENCES & SERVICES-

CiteScore

6.60

自引率

8.30%

发文量

审稿时长

>12 weeks

期刊介绍： The Patient provides a venue for scientifically rigorous, timely, and relevant research to promote the development, evaluation and implementation of therapies, technologies, and innovations that will enhance the patient experience. It is an international forum for research that advances and/or applies qualitative or quantitative methods to promote the generation, synthesis, or interpretation of evidence. The journal has specific interest in receiving original research, reviews and commentaries related to qualitative and mixed methods research, stated-preference methods, patient reported outcomes, and shared decision making. Advances in regulatory science, patient-focused drug development, patient-centered benefit-risk and health technology assessment will also be considered. Additional digital features (including animated abstracts, video abstracts, slide decks, audio slides, instructional videos, infographics, podcasts and animations) can be published with articles; these are designed to increase the visibility, readership and educational value of the journal’s content. In addition, articles published in The Patient may be accompanied by plain language summaries to assist readers who have some knowledge of, but not in-depth expertise in, the area to understand important medical advances. All manuscripts are subject to peer review by international experts.