NGS在下呼吸道感染病原学中的应用

Application of NGS in etiology diagnosis of lower respiratory tract infection

病因不明、难治性下呼吸道感染是目前呼吸系统领域的一大难题,有针对性地、快速地识别病原体是治疗的关键,目前尚未有理想的检测方法。近年来,新一代基因测序技术发展迅猛,在医学领域各个方面都有着广泛的应用,为识别下呼吸道病毒、细菌、真菌、结核杆菌、支原体等病原体提供了新的思路。目前较为可靠且在病原学检测方面应用较多的是Illumina MiSeq。不少研究表明,新一代测序技术不仅能更全面、无偏倚地识别病原体及其变异体,还能提供其抗性基因,这就不仅为个体化治疗提供方案,更在爆发性感染中发挥难以替代的优势。下一代基因测序技术(NGS)可通过检测血、痰、肺泡灌洗液、刷检、活检标本中的病原体,从而为难治性和重症下呼吸道感染患者带来福音。不过新一代测序技术仍有很多缺陷,如耗时长、样品采集不规范、致病菌难确定等,进一步完善检测技术及临床分析流程后,新一代测序技术有望改变病原学的诊断。

The unknown etiology and refractory lower respiratory infection has long been a disturbing problem in respiratory field.How to identify the pathogen quickly and pointedly is the key to treatment them.At present,there is no ideal detection method.In recent years,the next-generation sequencing(NGS)has been wide applied in many aspect of medicine,which provides an new way of identifying pathogens,including virus,bacteria,fungus,mycobacterium,tuberculosis,mycoplasma.At present,Illumina MiSeq is a more reliable platform and widely used in the detection of etiology.Many researches show that NGS can not only recognize pathogens and variants more comprehensively and unbiasedly,but also provide the genes related to resistance,and it can not only provide individualized treatment scheme,but also play an important role in the explosive infection.NGS has brought good news for the patients with refractory severe lower respiratory tract infection by detecting blood,sputum,bronchoalveoar lavage fluid(BALF),protected-specimen brush,biopsy and other specimen available for testing.However,NGS has its flaws,for example,time-consuming,irregular sample collection,identification of pathogenic bacteria,and so on.NGS is expected to change the etiologic diagnosis after the detection techniuqe and clinical analysis process being improved further.