二代测序技术在病原学检测中的价值

The value of next-generation sequencing technology in pathogen detection

感染是儿童常见的疾病谱,精准、快速的病原体诊断能帮助临床医师有的放矢地进行治疗,改善患儿预后。传统的病原体诊断方法存在耗时长、灵敏度低等缺陷,近些年来二代测序技术不断发展并应用于临床,成为病原学诊断的新方法。其中宏基因二代测序技术应用最多,它可以无偏移地将标本中所有病原体的核酸都检测出来,此技术包括了样本采集、核酸提取、文库制备、高通量测序、生物信息分析和报告解读几个基本步骤。由于整个流程涉及临床、微生物、生物信息多个领域,故对于报告结果的判读需要临床医生结合患者及其他辅助诊断手段仔细斟酌反复求证。临床医生需要了解二代测序的优势和局限性,才能更好地利用这项技术服务于患者。

Infectious disease is common in children.Accurate and rapid pathogen diagnosis can help clinicians to make targeted treatment and improve the outcome of children.The next-generation sequencing has been developed and applied in clinic recently,which has become a new method of pathogen diagnosis.Metagenomicnext-generation sequencing is the most widely used for pathogen detectation in infectious disease.It can detect all pathogens nucleic acids of the samples unbiasedly.This technology includes sample collection,nucleic acid extraction,library preparation,high-throughput sequencing,biological information analysis and report interpretation.As the complication of whole process involving clinical,microbiological and bioinformation fields,the interpretation of the report results needs to be carefully considered and verified by clinicians depends on the situation of patients and other auxiliary diagnostic methods.Clinicians need to understand next-generation sequencing in order to make better use of this technology and serve patients.