癫痫的精准医学:来自国际定性研究的临床医生观点。

IF 6.6 1区 医学 Q1 CLINICAL NEUROLOGY
Epilepsia Pub Date : 2025-05-24 DOI:10.1111/epi.18480
Matthias De Wachter, Anne Juul, Annelies Colliers, Berten Ceulemans, Sarah Weckhuysen, Anna C Jansen, Rikke S Møller
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引用次数: 0

摘要

目的:精准医学在罕见遗传性癫痫的治疗中越来越受到重视。然而,其在临床实践中的可用性和实施仍然有限。本研究探讨了影响癫痫患者实施PM的障碍和促进因素。方法:对全球不同地区参与PWE癫痫护理的临床医生进行半结构化访谈。参与者是根据地理分布和世界银行的收入分类有目的地选择的。框架分析用于确定关键主题。结果:采访了来自六大洲的16名临床医生。出现了五个关键主题。项目管理的实施取决于(1)卫生保健提供者的个人观点和经验;(2) PWE及其护理人员对PM的态度及其与临床医生的互动;(3)继续对卫生保健提供者进行教育,组建专家团队,并提供关于预防管理的有力证据;(4)包括患者倡导团体在内的多层次合作;(5)明确、一致的组织方法以及制定和实施标准化的指导方针。意义:临床医生认为PM是PWE护理的变革,并期望它在不久的将来重新定义标准实践。无论社会经济背景如何,知识不足是实施PM的主要障碍,这突出了将PM纳入基本医疗培训和住院医师计划的必要性。为了解决不公平问题,整合的护理途径和标准化的基因检测和PM指南,以及建立以PM为重点的当地专家团队对于支持临床医生做出知情的PM决策至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Precision medicine in epilepsy: Clinicians' perspectives from an international qualitative study.

Objective: Precision medicine (PM) is gaining increasing importance in the treatment of rare genetic epilepsies. However, its availability and implementation in clinical practice remain limited. This study explores the barriers and facilitators influencing the implementation of PM for people with epilepsy (PWE).

Methods: Semistructured interviews were conducted with clinicians involved in epilepsy care for PWE across various global regions. Participants were purposefully selected based on geographical distribution and World Bank income classification. Framework analysis was used to identify key themes.

Results: Sixteen clinicians from six different continents were interviewed. Five key themes emerged. The implementation of PM depends on (1) the personal perspective and experience of health care providers; (2) the attitude of PWE and their caregivers toward PM, and their interaction with clinicians; (3) continuous education of health care providers, formation of expert teams, and generation of robust evidence on PM; (4) multilevel collaboration including patient advocacy groups; and (5) a clear, consistent organizational approach and the development and implementation of standardized guidelines.

Significance: Clinicians consider PM as transformative for the care for PWE and expect it to redefine standard practice in the near future. Insufficient knowledge is the primary barrier to PM implementation, irrespective of socioeconomic context, highlighting the need for its integration into basic medical training and residency programs. To address inequities, integrated care pathways and standardized guidelines for genetic testing and PM, and the establishment of local PM-focused expert teams are essential to support clinicians in making informed PM decisions.

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来源期刊
Epilepsia
Epilepsia 医学-临床神经学
CiteScore
10.90
自引率
10.70%
发文量
319
审稿时长
2-4 weeks
期刊介绍: Epilepsia is the leading, authoritative source for innovative clinical and basic science research for all aspects of epilepsy and seizures. In addition, Epilepsia publishes critical reviews, opinion pieces, and guidelines that foster understanding and aim to improve the diagnosis and treatment of people with seizures and epilepsy.
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