下一代测序在传染病诊断领域的应用及监管

Next-generation sequencing in the field of diagnosis of infectious disease and regulation

传染病是人类健康的重要威胁之一,及时准确地鉴定病原微生物,对流行病和突发疫情的防控具有重要意义。近年来,传染病诊断领域正面临新的技术革命,主角正是＂下一代测序（next-generation sequencing,NGS）＂技术,又称＂大规模平行测序（massively parallel sequencing,MPS）＂或＂高通量测序（high-throughput sequencing,HTS）＂技术[1-2]。与＂上一代＂测序（如Sanger测序）最大的不同在于,

Infectious diseases have been one of the most important threat to human health all the time.Recently,next-generation sequencing（NGS）technologies have been increasingly used for diagnosis and made a revolution for infectious disease diagnostics.As the revolutionary detection technology,NGS had many irreplaceable advantages that made it play important roles in many fields such as prevention and control of epidemic of infectious diseases,detection of pathogenic microbes,identification of suspected targets,and the metagenomics.Due to some technical and regulation policy issues,NGS has not been popularized in clinical applications.However,there is no doubt that NGS would replace the traditional method for clinical diagnosis in the near future.On December 2015,BioMérieux and Illumina announced the launch of bioMérieux EpiSeq in Europe,an innovative NGS application dedicated to the epidemiological monitoring and control of healthcare-associated infections.The launch of EpiSeq was again the proof of a positive future for NGS.In this review,we briefly summarize the cutting-edge applications and challenges of NGS for detection of pathogenic microbes including viruses,bacterial,drug-resistant variants.We also introduce the current thinking of FDA regarding the management and regulation on NGS.These information could be useful for practitioners in the field of in vitro diagnostics as well as the relevant regulatory authorities.