靶向高通量测序在感染性疾病中应用与实践专家共识  

Expert consensus on the application and practice of targeted next-generation sequencing in infectious diseases

作　　者：中国医疗保健国际交流促进会临床微生物学分会 王辉[2] 曹彬[3] 陈宏斌[2] 尹玉瑶 郭一凡 Society of Clinical Microbiology of China International Exchange and Promotion Association for Medical and Healthcare;Wang Hui;Cao Bin(不详;Department of Clinical Laboratory,Peking University People′s Hospital,Beijing 100044,China;Department of Pulmonary and Critical Care Medicine,China-Japan Friendship Hospital,Beijing 100029,China)

机构地区：[1]不详 [2]北京大学人民医院检验科,北京100044 [3]中日友好医院呼吸与危重症医学科,北京100029

出　　处：《中华医学杂志》2024年第48期4375-4383,共9页National Medical Journal of China

基　　金：国家自然科学基金(82341107);国家重点研发计划(2022YFA1304300)。

摘　　要：靶向高通量测序(tNGS)技术通过设计特异性引物或捕获探针,靶向检测临床标本中的病原体及其耐药基因,为感染性疾病的诊疗、监测提供证据。然而当前tNGS和宏基因组高通量测序(mNGS)临床应用场景不明确,且不同厂家tNGS技术体系差异大,结果良莠不齐,在临床适应证、实验流程、质量控制、性能验证和报告解读等方面缺乏共识和标准。为了更好指导我国tNGS的临床实践,中国医疗保健国际交流促进会临床微生物学分会邀请微生物学、感染病学、呼吸病学、流行病学等领域的专家共同研讨和参与制订《靶向高通量测序在感染性疾病中应用与实践专家共识》。本指南系统归纳了国内外tNGS在感染性疾病中的研究,提出符合我国临床实践的推荐意见,主要内容包括:共识制订过程、临床适应证、技术要点、湿实验与干实验、报告发放与解读和报告模板,以期规范tNGS在感染性疾病中的应用和实践。Targeted next-generation sequencing(tNGS)technology focuses on detecting pathogenic microorganisms and drug-resistant genes in clinical samples by designing specific primers or capture probes,providing evidence for the diagnosis,treatment and surveillance of infectious diseases.However,the current clinical application scenarios of tNGS and metagenomic next-generation sequencing(mNGS)are not clearly defined,and the tNGS systems from different manufacturers vary significantly in quality and results.There is an urgent need for consensus and standards regarding the clinical indications,laboratory processes,quality control,performance validation and interpretation of reports for this technology.In order to standardize the application and practice of tNGS in infectious diseases,experts in the fields of microbiology,infectious disease,respiratory disease,epidemiology and other fields from the Society of Clinical Microbiology of China International Exchange and Promotion Association for Medical and Healthcare discussed the above problems,wrote the expert consensus on the application and practice of tNGS in infectious diseases.This consensus summarizes the research on tNGS in infectious diseases,and proposes recommendations that are in line with clinical practice in China,so as to standardize the application and practice of tNGS in infectious diseases.The main contents include:consensus formulation process,clinical indications,technical points,wet and dry experiments,report and interpretation,and report template.

关 键 词：感染 靶向高通量测序 病原检测 耐药检测 病原监测 

分 类 号：R73[医药卫生—肿瘤]