Department of Clinical Laboratory and Pathology, Hong Kong Adventist Hospital, Hong Kong Special Administrative Region, China.
Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong Special Administrative Region, China.
Expert Rev Mol Diagn. 2022 May;22(5):575-582. doi: 10.1080/14737159.2022.2071607. Epub 2022 May 2.
Clinical metagenomic next-generation sequencing (mNGS) allows a comprehensive genetic analysis of microbial materials. Different from other traditional target-driven molecular diagnostic tests, such as PCR, mNGS is a hypothesis-free diagnostic approach that allows a comprehensive genetic analysis of the clinical specimens that cover nearly any common, rare, and new pathogens ranging broadly from viruses, bacteria, fungi to parasites.
In this article, we discussed the clinical application of the mNGS using two clinical cases as examples and described the use of mNGS to assist the diagnosis of parasitic pulmonary infection. The advantages and challenges in implementing mNGS in clinical microbiology are also discussed.
mNGS is a promising technology that allows quick diagnosis of infectious diseases. Currently, a plethora of sequencing and analysis methods exists for mNGS, each with individual merits and pitfalls. While standards and best practices were proposed by various metagenomics working groups, they are yet to be widely adopted in the community. The development of a consensus set of guidelines is necessary to guide the usage of this new technology and the interpretation of NGS results before clinical adoption of mNGS testing.
临床宏基因组下一代测序（mNGS）可对微生物材料进行全面的基因分析。与其他传统的靶向驱动分子诊断测试（如 PCR）不同，mNGS 是一种无假设的诊断方法，可对临床标本进行全面的基因分析，涵盖了从病毒、细菌、真菌到寄生虫等几乎所有常见、罕见和新型病原体。
本文通过两个临床病例讨论了 mNGS 的临床应用，并描述了使用 mNGS 协助寄生虫性肺部感染的诊断。还讨论了在临床微生物学中实施 mNGS 的优缺点。
mNGS 是一种很有前途的技术，可快速诊断传染病。目前，mNGS 有大量的测序和分析方法，每种方法都有其优点和缺点。虽然各种宏基因组工作组提出了标准和最佳实践，但它们尚未在社区中广泛采用。有必要制定一套共识指南，以指导该新技术的使用，并在临床采用 mNGS 检测之前对 NGS 结果进行解释。
