遗传病基因变异全外显子组测序技术规范化应用专家共识  

Expert consensus on the standardized application of whole exome sequencing technology in the diagnosis of genetic disorders

作　　者：中国医师协会医学遗传医师分会 中国妇幼保健协会出生缺陷与分子遗传分会 上海市医师协会临床遗传专业委员会 上海市医学会分子诊断专科分会 鲍芸范 燕洁 苏萌 吴冰冰 胡晓波 王剑[6] 余永国[3] 黄涛生 Expert consensus on the standardized application of whole exome sequencing technology in the diagnosis of genetic disordersMedical Genetics Branch of Chinese Medical Association;Birth Defects and Molecular Genetics Branch of China Maternal and Child Health Care Association;Clinical Genetics Professional Committee of Shanghai Medical Association;Molecular Diagnosis Branch of Shanghai Medical Association;Bao Yun;Fan Yanjie;Su Meng;Wu Bingbing;Hu Xiaobo;Wang Jian;Yu Yongguo;Huang Taosheng(不详;Shanghai Clinical Laboratory Center,Shanghai 200126,China;Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200092,China;Fuwai Hostital,Chinese Academy of Medical Science,Beijing 100037,China;Children's Hospital of Fudan University,Shanghai 201102,China;International Peace Maternity and Child Health Care Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 201499,China;Research Institute of Medical Genetics,Fudan University,Shanghai 201102,China)

机构地区：[1]不详 [2]上海市临床检验中心,上海200126 [3]上海交通大学医学院附属新华医院,上海200092 [4]中国医学科学院阜外医院,北京100037 [5]复旦大学附属儿科医院,上海201102 [6]上海交通大学医学院附属国际和平妇幼保健院,上海201499 [7]复旦大学医学遗传研究院,上海201102

出　　处：《中华医学遗传学杂志》2025年第1期1-11,共11页Chinese Journal of Medical Genetics

基　　金：上海市“医苑新星”青年医学人才培养资助计划(沪卫人事[2022]65号);上海市临床检验中心学科人才培养计划(2024RCJH-02)。

摘　　要：二代测序技术(NGS)在遗传病诊断中发挥着越来越重要的作用。全外显子组测序(WES)针对基因组编码区进行检测,具有成本低、效率高等优势,已被广泛用于遗传病检测。但与传统的检测相比,NGS操作流程复杂,数据分析和变异解读人员能力参差不齐,给检测结果的准确性造成了不确定性。为保证检测质量,提高疾病的诊断率,本共识对WES在实验室设置、操作流程、数据处理、结果解读、质量控制等方面提出了建议,以规范其在遗传病检测中的应用。Next generation sequencing(NGS)technology is playing an increasingly important role in the diagnosis of genetic diseases.Whole exome sequencing(WES),which targets the coding regions of the genome,has been widely used in the diagnosis of genetic diseases for its low cost and high efficiency.However,compared to conventional methods,the Next Generation Sequencing(NGS)process is intricate,and there is variability in the expertise of data analysts and variant interpreters,which may lead to inconsistencies in the outcomes.To ensure the quality of testing and enhance the diagnostic rate of diseases,this consensus has provided recommendations regarding the laboratory setup,operational procedures,data analysis,result interpretation,and quality control for WES,with an aim to standardize its application in the detection of genetic disorders.

关 键 词：全外显子组测序 二代测序 质控 变异解读 

分 类 号：R714.5[医药卫生—妇产科学]