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[解读下呼吸道感染宏基因组下一代测序结果的若干问题]

[Several issues in interpreting the results of metagenomic next generation sequencing of lower respiratory tract infection].

作者信息

Zhou H

机构信息

Department of Respiratory and Critical Care Medicine, First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310003,China.

出版信息

Zhonghua Jie He He Hu Xi Za Zhi. 2023 Apr 12;46(4):319-321. doi: 10.3760/cma.j.cn112147-20221117-00903.

Abstract

Metagenome next generation sequencing (mNGS) is an important method for pathogen diagnosis of lower respiratory tract infection, but there are many difficulties in interpreting mNGS reports. The Expert Consensus on Clinical Interpretation Path of mNGS of Lower Respiratory Tract Infection, completed by Chinese Thoracic Society, provides a detailed path and guidance for report interpretation. The expert consensus covers clinical medicine, microbiology, molecular diagnosis and other aspects. On this basis, several important clinical issues need to be highlighted. First, the lower respiratory tract specimens used for mNGS must be obtained in a timely and qualified manner. Second, the correct interpretation of the mNGS report needs to be based on a full understanding of the patients and their conditions. Third, the quality of the report should be analyzed according to the main parameters in the mNGS report. Fourth, an understanding of basic microbiology knowledge is beneficial to identify valuable pathogens in the mNGS report. Fifth, other microbiological methods should be actively used during mNGS detection. Sixth, to seek the help of the team when necessary and organize multidisciplinary discussions are vital. Seventh, it is important to constantly adjust the diagnosis and treatment strategies according to the clinical treatment response to treatment and the evolution of the disease. In a word, the interpretation of mNGS results needs to refer to specimen types and sequencing parameters, to combine with the specific conditions of patients in detail, to collect a variety of microbiological test results, to carefully screen and make judgement according to the treatment effect and disease outcome, and finally to make the diagnosis. The interpretation of mNGS report also requires us to have more knowledge of microbiology, sequencing and bioinformatics analysis, and to pay more attention to the strength of the team to discriminate the truth in multidisciplinary collaboration.

摘要

宏基因组下一代测序(mNGS)是下呼吸道感染病原体诊断的重要方法,但mNGS报告解读存在诸多困难。中华医学会呼吸病学分会完成的《下呼吸道感染宏基因组测序临床解读路径专家共识》为报告解读提供了详细路径和指导。专家共识涵盖临床医学、微生物学、分子诊断等多个方面。在此基础上,有几个重要的临床问题需要强调。第一,用于mNGS的下呼吸道标本必须及时、合格获取。第二,mNGS报告的正确解读需要基于对患者及其病情的全面了解。第三,应根据mNGS报告中的主要参数分析报告质量。第四,了解基础微生物学知识有助于识别mNGS报告中有价值的病原体。第五,在mNGS检测过程中应积极运用其他微生物学方法。第六,必要时寻求团队帮助并组织多学科讨论至关重要。第七,根据临床治疗反应和疾病演变不断调整诊疗策略很重要。总之,mNGS结果的解读需要参考标本类型和测序参数,结合患者具体情况,收集多种微生物检测结果,根据治疗效果和疾病转归仔细筛选并做出判断,最终做出诊断。mNGS报告的解读还要求我们具备更多微生物学、测序和生物信息学分析知识,更加注重团队力量以在多学科协作中辨别真伪。

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