感染性病原体二代测序技术研究进展

Advances in next-generation sequencing technique for infectious pathogens

感染性疾病是全球人口发病及死亡的主要原因,病原学快速精准鉴定是其控制、预防的基础。传统病原学检测技术成熟、阳性预测价值高,然而却面临着病原谱窄、阳性率低、精确度低、检测周期长等局限性,常导致疾病治疗延误及抗菌药物滥用。二代测序技术(NGS)以其高通量、覆盖度广、精确度高等优势,成功应用于疑难危重感染性疾病诊治以及未知病原体鉴定、耐药基因监测、流行病学追踪调查等方面。NGS作为病原学鉴定的一种新技术,表现出巨大潜力,然而目前临床感染工作者认知及接受程度各异,本文通过综述NGS的基本原理、发展历程以及在感染性疾病病原体鉴定中的典型案例及其优势,反思其技术尚存在的挑战,使广大医疗工作者充分了解NGS作为感染性疾病诊断工具的作用及其局限性;同时提出NGS未来技术的发展方向,以期在感染性疾病的诊治中发挥更大的优势。

Infectious diseases are the main cause of morbidity and death in the global population,and the rapid and accurate identification of etiology is the basis of its control and prevention.The traditional etiological detection technology is mature and has high positive prediction value,however,it is faced with fatal limitations such as narrow pathogen spectrum,low positive rate,low accuracy,and long detection cycle,which often lead to delays in disease treatment and abuse of antibiotics.With the advantages of high throughput,wide coverage and high accuracy,the next-generation sequencing technology(NGS)has been successfully applied in the diagnosis and treatment of difficult and critical infectious diseases,identification of unknown pathogens,drug resistance gene surveillance,and epidemiological follow-up investigations.As a new technology of pathogen identification,NGS shows great potential.However,the cognition and acceptance of clinical infection workers are different.This article reviews the basic principle,development of NGS,as well as the typical cases and advantages in pathogen identification of infectious diseases,and reflects on the challenges that still exist in its technology.So that the majority of medical workers can fully understand the power and limitations of NGS as a diagnostic tool for infectious diseases.At the same time,the development direction of NGS technology in the future is put forward,which is expected to play a greater advantage in the diagnosis and treatment of infectious diseases.