Development of a novel gene editing lexicon for hemophilia: methodology and results

IF 3.4 3区医学 Q2 HEMATOLOGY

Research and Practice in Thrombosis and Haemostasis Pub Date : 2025-02-01 DOI:10.1016/j.rpth.2025.102710

Craig M. Kessler , Leonard A. Valentino , Courtney D. Thornburg , Carmen Unzu , Mark A. Kay , Flora Peyvandi , Penni Smith , Wolfgang Miesbach , William McKeown , Glenn F. Pierce , Kate Khair , Katarina Starcevic , Monisha Pillai , Micheala Jones , Anil Sindhurakar , Lauren Whyte , Virginie Delwart , Megan Chiao , David E. Gutstein , Ilia Antonino , Steven W. Pipe

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引用次数: 0

Abstract

Background

Clustered regularly interspaced short palindromic repeats (CRISPR)-associated protein 9 (Cas9)-based targeted gene editing platforms are being developed to treat genetic diseases like hemophilia. Such novel therapy involves complex concepts and terminology that require aligned language to engage key stakeholders in the hemophilia community. Thus, a globally aligned gene editing lexicon – a consistent language to communicate the fundamentals of gene editing in hemophilia, designed to be credible and accessible for people with hemophilia and caregivers while avoiding unnecessary complexity – is required to address this need.

Objectives

To establish an aligned language and communications framework that facilitates informed consent and shared decision-making regarding gene editing and treatment considerations in hemophilia.

Methods

Through an innovative partnership with global experts in hemophilia, gene editing, and biotechnology, initial insights were gathered via interviews, workshops, and analysis of existing language within the hemophilia community. Qualitative research involving lived experience experts (people with hemophilia and caregivers; n = 43) and hematologists (n = 24) informed the lexicon development, which was further validated by a steering committee of global experts in the hemophilia and gene editing fields. Finally, optimized language recommendations were developed for a clear, consistent gene editing lexicon.

Results

Key themes included insights into audience mindsets, guiding language principles, and optimized terminology for key topics like gene editing concepts and posttreatment considerations. Audience mindsets revealed cautious optimism around gene therapy, with more skepticism around gene editing. Guiding language principles indicated a preference for plainspoken over technical language, definitions that link to patient benefits, and explanations that highlight the precise nature of gene editing.

Conclusion

This collaborative approach ensures broad adoption of the lexicon within the hemophilia community and readiness for beta testing.

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一种新的血友病基因编辑词典的开发：方法和结果

基于聚集规律间隔短回文重复（CRISPR）相关蛋白9 （Cas9）的靶向基因编辑平台正在被开发用于治疗血友病等遗传疾病。这种新疗法涉及复杂的概念和术语，需要统一的语言来吸引血友病社区的关键利益相关者。因此，需要一个全球统一的基因编辑词典——一种一致的语言来传达血友病基因编辑的基本原理，旨在为血友病患者和护理人员提供可信和可访问的语言，同时避免不必要的复杂性——来满足这一需求。目的：建立统一的语言和沟通框架，促进血友病基因编辑和治疗方面的知情同意和共同决策。方法通过与血友病、基因编辑和生物技术领域的全球专家建立创新伙伴关系，通过访谈、研讨会和对血友病社区现有语言的分析收集了初步见解。涉及生活经验专家（血友病患者和护理人员）的定性研究；N = 43)和血液学家（N = 24）通报了词典的发展情况，由血友病和基因编辑领域的全球专家组成的指导委员会进一步验证了这一点。最后，优化了语言建议，以建立一个清晰、一致的基因编辑词典。结果关键主题包括对受众心态的洞察、指导语言原则，以及针对基因编辑概念和后处理考虑等关键主题的优化术语。观众对基因治疗持谨慎乐观态度，对基因编辑持更多怀疑态度。指导性语言原则表明，相对于技术性语言，人们更倾向于直言不讳，更倾向于与患者利益相关的定义，更倾向于强调基因编辑的确切性质的解释。结论：这种合作方法确保了血友病社区广泛采用词典，并为beta测试做好准备。

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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