病原宏基因组高通量测序临床本地化检测规范专家共识  

Expert consensus on clinical localization detection standards for metagenomic next generation sequencing of pathogens

作　　者：中国药师协会 中华医学会细菌感染与耐药防治分会 国家卫生健康委临床抗微生物药物敏感性折点研究和标准制定专家委员会 杨启文[2] 王明贵[3] 马筱玲 张建中[5] 李轶[6] 吴文娟[7] 杨继勇[8] 韩东升[9] 李家斌 罗燕萍[8] 周华[9] 谷丽[11] 张西京 李敏[13] 单斌[14] 胡付品[3] 刘正印[15] 周海健[5] Chinese Pharmacists Association;Branch of Bacterial Infection and Resistance Prevention of Chinese Medical Association;Expert Committee of the National Health Commission on Antimicrobial Susceptibility Testing and Standard Research;Yang Qiwen;Wang Minggui(不详;Department of Clinical Laboratory,Peking Union Medical College Hospital,Beijing 100730,China;Institute of Antibiotics,Huashan Hospital,Fudan University,Shanghai 200040,China)

机构地区：[1]不详 [2]中国医学科学院北京协和医院,北京100730 [3]复旦大学华山医院抗生素研究所,上海200040 [4]中国科学技术大学附属第一医院检验科 [5]中国疾病预防控制中心传染病预防控制所 [6]河南省人民医院检验科 [7]上海市东方医院检验科 [8]解放军总医院检验科 [9]浙江大学医学院附属第一医院检验科 [10]安徽医科大第一附属医院感染科 [11]首都医科大学附属北京朝阳医院感染科 [12]空军军医大学西京医院重症医学科 [13]上海交通大学医学院附属仁济医院检验科 [14]昆明医科大学附属第一医院检验科 [15]中国医学科学院北京协和医院感染科

出　　处：《中华预防医学杂志》2024年第4期454-465,共12页Chinese Journal of Preventive Medicine

摘　　要：感染性疾病严重危害人类生命健康,快速准确检测病原体是有效治疗和精准防控感染性疾病的关键环节。传统的病原学检验技术覆盖的微生物种类少,难以满足临床需求。宏基因组高通量测序(mNGS)理论上可同时检测所有已知基因序列的病原体,在很大程度上提高了临床疑难危重感染、罕见和新发病原体感染的诊断水平和救治能力。在个体化医疗需求的大背景下,新技术的实验室自建检测(LDT)能够持续提高临床诊治水平。由于mNGS技术平台研发起点高、操作流程复杂,为了保证该技术合理应用,保障患者医疗安全,本文在临床检验、感染、危重症及体外诊断等领域的专家就mNGS-LDT的流程搭建、性能确认、质量控制、报告审核等方面形成共识并提出规范要求和建议。Infectious diseases seriously endanger human health.Rapid and accurate detection of pathogens is the key to effective treatment and precise prevention and control of infectious diseases.Traditional pathogen testing techniques cover a limited variety of microorganisms,making it difficult to meet clinical needs.Metagenomic Next Generation Sequencing(mNGS)theoretically can simultaneously detect all known gene sequences of pathogens,greatly improving the clinical capacity of diagnosing and treating patients with severe,complicated,rare,and emerging pathogen infections.In the context of individualized health needs,the laboratory developed test(LDT)of new technologies in laboratories can continuously improve the level of clinical diagnosis and treatment.Due to the high starting point of research and development and the complex operation process of the mNGS technology platform,this study reaches a consensus on the experimental procedure,assay validation,quality control,and report review of the mNGS-LDT in the fields of clinical testing,infection,critical care,and in vitro diagnosis to ensure the appropriate application of the technology and guarantee patient safety and proposes standardized requirements and suggestions.

关 键 词：病原宏基因组测序 实验室自建检测 性能确认 质量控制 

分 类 号：R446.5[医药卫生—诊断学]