高通量宏基因组测序技术检测病原微生物的临床应用规范化专家共识.pdfVIP

中华检验医学杂志2020年12月第43卷第 12期 ChinJLabMed,December2020,Vol.43,No.12 ·1181 · · 指南与共识· 高通量宏基因组测序技术检测病原微生物 的临床应用规范化专家共识 中华医学会检验医学分会 通信作者：鲁辛辛，Email：luxinxin2009 126.com；王成彬，Email：wangcb301 126.com 【摘要】 宏基因组下一代测序（mNGS）技术直接针对标本中核酸无偏倚检测病原微生物序列。 但是，mNGS需经标本前处理、核酸提取、文库制备、上机测序、数据库比对、报告生成及结果解读等一 系列过程，对技术平台及人员素质要求较高。为规范mNGS技术在感染性疾病诊断中的应用，提高危 急重症、疑难感染性疾病和新发突发传染病的救治水平，在多项国家科技专项的支持下，本领域有关 专家起草了本共识，以促进mNGS技术的规范应用和良性发展。 【关键词】 宏基因组下一代测序； 感染性疾病； 病原微生物； 共识 基金项目：国家科技重大专项（2014Z2018Z2018Z；国家重点 研发计划（2019YFC1200700） Expert consensus on clinical standardized application of metagenomics next‐generation sequencing for detection of pathogenic microorganisms Chinese Society of Laboratory Medicine Corresponding authors: Lu Xinxin, Email: luxinxin2009 @126. com; Wang Chengbin, Email: wangcb301 @126.com 【Abstract 】 Metagenomenext‐generationsequencing (mNGS) technique can directly target the nucleic acid in samples to detect the sequence of pathogenic microorganisms without any bias. However, mNGS needs to go through a series of processes, including sample collection, nucleic acid extraction, library preparation, sequencing, bioinformatic analysis and reporting. All these steps require qualified technical platforms and personnel. In order to standardize the application of mNGS technique in the diagnosis of infectious diseases and improve the treatment quality of critical, difficult and emerging infectious diseases, relevant experts in this field, with the support from many national scientific projects, have drafted this consensus, hoping to promote the standardized application and future development of the mNGS technique. 【Key words 】 Metagenomics next‐generation sequencing; Infectious diseases; Pathog