病原微生物宏基因组测序生物信息分析及报告质量控制专家共识  

Chinese expert consensus on quality control of bioinformatics analysis and standardized report for pathogen metagenomic next-generation sequencing

作　　者：中华医学会检验医学分会 李莉[2] 王成彬[3] 王传新 陈崴[5] 李少川 韩东升[7] Chinese Society of Laboratory Medicine;Li Li;Wang Chengbin;Wang Chuanxin

机构地区：[1]不详 [2]上海交通大学医学院附属第一人民医院检验医学中心 [3]解放军总医院第一医学中心检验科 [4]山东大学第二医院检验医学中心 [5]西安交通大学医学院第一附属医院检验科 [6]广州市瑞因生命科学研究院 [7]浙江大学医学院附属第一医院检验科

出　　处：《中华检验医学杂志》2025年第1期28-37,共10页Chinese Journal of Laboratory Medicine

基　　金：国家自然科学基金(81871267);国家重点研发计划(2022YFC2009604)。

摘　　要：病原微生物宏基因组测序(mNGS)对临床感染性疾病的诊断和治疗具有重要作用。近年,国内外多项关于mNGS技术标准化与临床实施的专家共识从不同的角度对该技术的临床实践起到了规范作用。但复杂的生物信息分析和非标准化的报告审核依然是mNGS在向临床转化过程中面临的重要挑战。为提高测序后生物信息分析方法的规范和质量以及报告的临床可靠性和诊断价值,中华医学会检验医学分会组织相关专家在系统性复习文献的基础上,结合临床实践需求,通过德尔菲专家函询及专家论证会,最终形成《病原微生物宏基因组测序生物信息分析及报告质量控制中国专家共识》(以下简称《共识》)。共识规定了临床疑似感染标本宏基因组测序后病原微生物生物信息分析的内容、方法和结果报告的规则与要求,为临床实验室规范使用该方法检测临床感染性病原微生物提供支持。Pathogen metagenomic next-generation sequencing(mNGS)plays a significant role in the diagnosis and treatment of clinical infectious diseases.In recent years,various expert consensuses on the standardization and clinical implementation of mNGS technology have emerged,providing guidance on clinical practices from multiple perspectives.However,complex bioinformatics analysis and non-standardized reporting remain major challenges in the clinical translation of mNGS technique.To improve the standardization and quality of post-sequencing bioinformatics analysis methods,as well as the clinical reliability and diagnostic value of reports,the Chinese Society of Laboratory Medicine brought together a panel of experts who,through a systematic review of the literature and addressing clinical practice needs,conducted Delphi consultations and expert discussions.This process ultimately led to the formulation of the Chinese expert consensus on quality control of bioinformatics analysis and report for pathogen metagenomic next-generation sequencing.This Consensus outlines the content,methods,and reporting rules and requirements for bioinformatics analysis following mNGS on clinically suspected infectious specimens,providing support for clinical laboratories to standardize the application of this method for detecting infectious pathogens.

关 键 词：病原微生物 宏基因组 高通量测序 质量控制 生物信息 

分 类 号：R446.5[医药卫生—诊断学] Q811.4[医药卫生—临床医学]