Operationalising a Haemophilia Gene Editing Lexicon for Practical Use

IF 3 2区医学 Q2 HEMATOLOGY

Haemophilia Pub Date : 2025-01-27 DOI:10.1111/hae.15155

William McKeown, Cedric Hermans, Carmen Unzu, Mark A. Kay, Flora Peyvandi, Penni Smith, Wolfgang Miesbach, Glenn F. Pierce, Kate Khair, Leonard A. Valentino, Steven W. Pipe, Monisha Pillai, Micheala Jones, Virginie Delwart, Anil Sindhurakar, David E. Gutstein, Craig M. Kessler

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引用次数: 0

Abstract

Introduction

Gene editing therapies offer the possibility of substantial improvement in treatment and quality of life for people with haemophilia (PWH) in a landscape of dynamic therapeutic advancement. Developing a common and understandable language to discuss gene editing will be essential to ensure these treatments can be deployed in a safe and effective manner with fully informed and shared decision-making between healthcare professionals (HCPs) and PWH. A lexicon explaining and clarifying key concepts is one potential tool to address these aims. Here we evaluate how a gene editing lexicon could be deployed to maximise impact and improve patient outcomes.

Aim

To operationalise the gene editing lexicon for successful adoption by the haemophilia community.

Methods

Through an innovative, iterative process, representatives from the haemophilia community, including multidisciplinary HCPs, PWH, and caregivers, with support from language strategy experts, developed a gene editing lexicon and evaluated operational aspects for real-world adoption of this resource.

Results

A gene editing lexicon was developed, including infographics illustrating key concepts. Infographics were adapted from the lexicon to further clarify and communicate these concepts. Infographics were found to be a potentially vital tool for enhancing the practical use of the lexicon to promote shared decision-making and attain informed consent for gene editing therapies.

Conclusion

A gene editing lexicon shows promise for improving the understanding of gene editing for all stakeholders in the haemophilia community. Ensuring the lexicon remains up to date with current therapies and appropriate strategies for adoption such as infographics will enable this resource to have maximum impact.

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血友病基因编辑词典的实用化。

基因编辑疗法为血友病（PWH）患者的治疗和生活质量的实质性改善提供了可能，这是一种动态治疗进步的前景。开发一种通用和可理解的语言来讨论基因编辑，对于确保这些治疗能够以安全有效的方式部署，并在医疗保健专业人员（HCPs）和PWH之间充分知情和共享决策至关重要。解释和澄清关键概念的词典是实现这些目标的一个潜在工具。在这里，我们评估如何使用基因编辑词典来最大限度地发挥影响并改善患者的治疗效果。目的：操作基因编辑词典成功采用血友病社区。方法：通过创新的迭代过程，来自血友病社区的代表，包括多学科HCPs、PWH和护理人员，在语言策略专家的支持下，开发了基因编辑词典，并评估了该资源在现实世界中采用的操作方面。结果：开发了一个基因编辑词典，包括说明关键概念的信息图。信息图改编自词典，以进一步阐明和传达这些概念。信息图表被认为是一个潜在的重要工具，可以加强词典的实际使用，促进共同决策，并获得基因编辑疗法的知情同意。结论：基因编辑词典有望提高血友病社区所有利益相关者对基因编辑的理解。确保词典与当前的治疗方法和适当的采用策略（如信息图表）保持同步，将使该资源产生最大的影响。

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

Haemophilia 医学-血液学

CiteScore

6.50

自引率

28.20%

发文量

226

审稿时长

3-6 weeks

期刊介绍： Haemophilia is an international journal dedicated to the exchange of information regarding the comprehensive care of haemophilia. The Journal contains review articles, original scientific papers and case reports related to haemophilia care, with frequent supplements. Subjects covered include: clotting factor deficiencies, both inherited and acquired: haemophilia A, B, von Willebrand''s disease, deficiencies of factor V, VII, X and XI replacement therapy for clotting factor deficiencies component therapy in the developing world transfusion transmitted disease haemophilia care and paediatrics, orthopaedics, gynaecology and obstetrics nursing laboratory diagnosis carrier detection psycho-social concerns economic issues audit inherited platelet disorders.