Clinical Microbiological Laboratory, Department of Medical Microbiology, Leiden University Medical Center, Leiden, The Netherlands.
Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, The Netherlands.
Expert Rev Mol Diagn. 2021 Nov;21(11):1139-1146. doi: 10.1080/14737159.2021.1985467. Epub 2021 Oct 22.
Meningoencephalitis patients are often severely impaired and benefit from early etiological diagnosis, though many cases remain without identified cause. Metagenomics as pathogen agnostic approach can result in additional etiological findings; however, the exact diagnostic yield when used as a secondary test remains unknown.
This review aims to highlight recent advances with regard to wet and dry lab methodologies of metagenomic testing and technical milestones that have been achieved. A selection of procedures currently applied in accredited diagnostic laboratories is described in more detail to illustrate best practices. Furthermore, a meta-analysis was performed to assess the additional diagnostic yield utilizing metagenomic sequencing in meningoencephalitis patients. Finally, the remaining challenges for successful widespread implementation of metagenomic sequencing for the diagnosis of meningoencephalitis are addressed in a future perspective.
The last decade has shown major advances in technical possibilities for using mNGS in diagnostic settings including cloud-based analysis. An additional advance may be the current established infrastructure of platforms for bioinformatic analysis of SARS-CoV-2, which may assist to pave the way for global use of clinical metagenomics.
脑膜炎患者通常受损严重,从病因早期诊断中获益,但许多病例仍未找到明确病因。宏基因组学作为一种病原体不可知的方法可以提供更多的病因发现;然而,当作为辅助检测使用时,其确切的诊断效果尚不清楚。
本综述旨在强调宏基因组检测的湿实验和干实验方法学的最新进展,以及取得的技术里程碑。选择目前在认证诊断实验室中应用的程序进行了更详细的描述,以说明最佳实践。此外,还进行了荟萃分析,以评估在脑膜炎患者中使用宏基因组测序的额外诊断效果。最后,从未来展望的角度探讨了成功广泛实施宏基因组测序诊断脑膜炎的剩余挑战。
过去十年在使用 mNGS 进行诊断的技术可能性方面取得了重大进展,包括基于云的分析。目前,SARS-CoV-2 生物信息学分析平台的基础设施已经建立,这可能有助于为全球临床宏基因组学的应用铺平道路,这可能是另一个进展。