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

VernacularTitle:医学基因组委员会临床效用及有效性工作组工作规划
Author: Xinran DONG ¹ ; Wenhao ZHOU
Author Information

1. 复旦大学附属儿科医院分子医学中心,上海 201102
Keywords: whole genome sequencing; clinical utility assessment; rare genetic diseases; work plan
From: JOURNAL OF RARE DISEASES 2024;3(3):304-309
CountryChina
Language:Chinese
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.