病原体宏基因组高通量测序医院实验室本地化之路:现状和挑战  

Current status and challenges of pathogen metagenomic high-throughput sequencing testing implemented in a clinical laboratory affiliated to a hospital

作　　者：韩东升[1] 马筱玲 吴文娟[3] Han Dongsheng;Ma Xiaoling;Wu Wenjuan(Department of Laboratory Medicine,the First Affiliated Hospital of Zhejiang University School of Medicine,Hangzhou 310000,China;Department of Laboratory Medicine,the First Affiliated Hospital of University of Science and Technology of China,Hefei 230001,China;Department of Laboratory Medicine,Shanghai East Hospital,Shanghai 200123,China)

机构地区：[1]浙江大学医学院附属第一医院检验科,杭州310000 [2]中国科技大学附属第一医院检验科,合肥230001 [3]同济大学附属东方医院南院检验科,上海200123

出　　处：《中华检验医学杂志》2022年第2期100-104,共5页Chinese Journal of Laboratory Medicine

基　　金：国家自然科学基金(81971990);上海市公共卫生体系重点学科(GWV-10.1-XK04);上海市优秀技术带头人(20XD1434500)。

摘　　要：病原体宏基因组高通量测序(mNGS)检测流程高度复杂,对环境、设备和人员技术能力要求高。如何在本地化有序发展、规范管理及合理使用mNGS技术,是从业者必须审慎对待的科学课题。本文对mNGS医院实验室本地化系统的建立模式,检测系统的分析性能确认,来自生物因子、检测流程、生物信息学分析及信息传输的风险管理,以及适用于临床的病原体数据库、生物信息学分析人才和诊断报告的需求等几个层面的问题进行了思考和讨论,以促进mNGS在医院内规范应用和健康发展。Pathogen metagenomic next-generation sequencing(mNGS)testing is highly sophisticated.Its requirements for laboratory environment,equipment,and technical capabilities of personnel are very high.How to orderly develop,standardize management,and application of mNGS technology in hospitals is a scientific topic that practitioners must treat with caution.In this article,the establishment mode of the mNGS detection system in clinical laboratories,the analytical and clinical validation of the detection system,the risk management(which from biological factors,detection procedures,and the bioinformatics analysis and information transmission),as well as the requirements for pathogen databases,bioinformatics analysis talents,and diagnostic reports,have been professionally considered and discussed.It is expected to provide scientific advice for the completely implementation of mNGS testing in a clinical laboratory affiliated to a hospital,promoting the standardized application and healthy development of this technology in hospitals.

关 键 词：宏基因组 病原体 高通量测序技术 

分 类 号：R446.5[医药卫生—诊断学]