医学基因组委员会临床效用及有效性工作组工作规划

Work Plan for the Clinical Utility & Usefulness Measures Working Group of Medical Genome Committee

董欣然 ¹周文浩²

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作者信息

1. 复旦大学附属儿科医院分子医学中心,上海 201102
2. 广州医科大学附属妇女儿童医疗中心,广州 510623
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摘要

全基因组测序(WGS)能够检测个体全基因组信息,具有检测范围广、变异覆盖范围大的特点,是诊断遗传性疾病尤其是遗传性罕见病的有力工具之一.但相关临床实践标准的缺乏使WGS在临床广泛应用面临障碍.通过建立医学基因组委员会临床效用及有效性工作组,结合国情,制订中国WGS临床效用评估的框架,有助于衡量WGS临床应用的最佳实践,确定其应用价值,为WGS在中国的临床应用提供证据和参考.基于此,本文对医学基因组委员会临床效用及有效性工作组未来工作规划进行介绍,并对临床效用及有效性评估内容、检测指标、评估策略进行说明,并对其应用进行展望.

Abstract

Whole genome sequencing(WGS)is one of the most robust strategies for diagnosing genetic diseases,especially rare genetic diseases,due to its ability to simultaneously detect a wide range of genetic mutations.However,the lack of relevant clinical standards and guidelines has posed obstacles to the widespread clinical application of WGS.By establishing the Clinical Utility & Usefulness Measures Working Group of Medical Genome Committee,we aim to develop a framework for the clinical utility assessment of WGS in China,which can provide evidence and reference for the clinical use of WGS in China.Here,we propose a work plan for the Clinical Utility & Usefulness Measures Working Group,offer explanations for the evaluation contents and strategies,and review the future prospects of the clinical utility assessment.

关键词

全基因组测序/临床效用评估/遗传罕见病/工作规划

Key words

whole genome sequencing/clinical utility assessment/rare genetic diseases/work plan

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基金项目

上海市科学技术重大项目(20Z11900600)

上海市科技创新行动计划(22DZ2204800)

出版年

2024

罕见病研究

CSTPCD

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参考文献量2

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