病原宏基因组高通量测序技术质量控制与评价的挑战和思考

Challenges and considerations on quality control and evaluation of pathogen metagenomic next-generation sequencing

摘要:

病原宏基因组高通量测序技术理论上能够检测几乎所有病原体基因组核酸，且适用于几乎所有类型的临床样本，尤其适用于病原不明的疑难感染性疾病的诊断。因此该技术正逐渐成为实验室常规检测方法的重要补充和不可替代的项目。然而，基于该技术的诊断试剂不仅检测流程繁琐复杂、技术更新迭代速度较快，同时相关质量控制与评价的方法和标准也有待明确，这些因素均给该技术的临床转化应用、行业发展以及监管带来挑战和不确定性。文中简述了该技术的原理和优势，以及检测流程和关键质量控制环节，最后着重介绍了关于该技术的质量评价方法和标准的相关思考。

Abstract:

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.