Liu Donglai, Zhang Chuntao, Wang Youchun, Xu Sihong
National Institutes for Food and Drug Control, Beijing 100050, China.
Sheng Wu Gong Cheng Xue Bao. 2020 Dec 25;36(12):2598-2609. doi: 10.13345/j.cjb.200377.
Metagenomic next-generation sequencing (mNGS) could be used for pathogen detection from nearly all types of clinical samples. Especially, the unique diagnostic capability of pathogen mNGS detecting unknown causative agent of infectious diseases makes this method become an importation complement and irreplaceable component for conventional routine laboratory test. However, the complexity of the testing process, the rapid product update, and the insufficiency in quality control and evaluation methods that all make clinical transformation, industry development, and regulation of this technology full of challenge and uncertainty. This review briefly introduces the technical advantages and challenges, and describes the general workflow and quality control steps in details. Finally, it focuses on current considerations regarding quality evaluation methods and standards for pathogen mNGS.
宏基因组下一代测序（mNGS）可用于从几乎所有类型的临床样本中检测病原体。特别是，病原体mNGS检测传染病未知病原体的独特诊断能力使该方法成为传统常规实验室检测的重要补充和不可替代的组成部分。然而，检测过程的复杂性、产品的快速更新以及质量控制和评估方法的不足，都使得该技术的临床转化、产业发展和监管充满挑战和不确定性。本文简要介绍了该技术的优势和挑战，并详细描述了其一般工作流程和质量控制步骤。最后，重点阐述了目前关于病原体mNGS质量评估方法和标准的相关考量。
