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提高癫痫精准医学水平的步骤。

Steps to Improve Precision Medicine in Epilepsy.

机构信息

Neuroscience Department, Meyer Children's Hospital IRCSS, Florence, Italy.

University of Florence, Florence, Italy.

出版信息

Mol Diagn Ther. 2023 Nov;27(6):661-672. doi: 10.1007/s40291-023-00676-9. Epub 2023 Sep 27.

DOI:10.1007/s40291-023-00676-9
PMID:37755653
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10590329/
Abstract

Precision medicine is an old concept, but it is not widely applied across human health conditions as yet. Numerous attempts have been made to apply precision medicine in epilepsy, this has been based on a better understanding of aetiological mechanisms and deconstructing disease into multiple biological subsets. The scope of precision medicine is to provide effective strategies for treating individual patients with specific agent(s) that are likely to work best based on the causal biological make-up. We provide an overview of the main applications of precision medicine in epilepsy, including the current limitations and pitfalls, and propose potential strategies for implementation and to achieve a higher rate of success in patient care. Such strategies include establishing a definition of precision medicine and its outcomes; learning from past experiences, from failures and from other fields (e.g. oncology); using appropriate precision medicine strategies (e.g. drug repurposing versus traditional drug discovery process); and using adequate methods to assess efficacy (e.g. randomised controlled trials versus alternative trial designs). Although the progress of diagnostic techniques now allows comprehensive characterisation of each individual epilepsy condition from a molecular, biological, structural and clinical perspective, there remain challenges in the integration of individual data in clinical practice to achieve effective applications of precision medicine in this domain.

摘要

精准医学是一个古老的概念,但尚未广泛应用于人类健康状况。人们曾多次尝试将精准医学应用于癫痫,这是基于对病因机制的更好理解,并将疾病分解为多个生物学亚群。精准医学的范围是为基于因果生物学结构的特定个体患者提供有效的治疗策略,使用可能最有效的特定药物。我们概述了精准医学在癫痫中的主要应用,包括当前的局限性和陷阱,并提出了实施的潜在策略,以提高患者护理的成功率。这些策略包括:确定精准医学及其结果的定义;从过去的经验、失败和其他领域(如肿瘤学)中学习;使用适当的精准医学策略(例如药物再利用与传统药物发现过程);以及使用适当的方法来评估疗效(例如随机对照试验与替代试验设计)。尽管诊断技术的进步现在允许从分子、生物学、结构和临床角度全面描述每个个体癫痫状况,但在将个体数据整合到临床实践中以实现精准医学在该领域的有效应用方面仍存在挑战。

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A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.一种新型 KCNC1 功能获得性变异导致发育性和癫痫性脑病:氟西汀的“精准医学”方法。
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