University of Groningen, University Medical Center Groningen, Department of Medical Microbiology and Infection Prevention, Groningen, The Netherlands.
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.
Expert Rev Mol Diagn. 2021 Dec;21(12):1273-1285. doi: 10.1080/14737159.2021.2001329.
Rapid and sensitive diagnostic strategies are necessary for patient care and public health. Most of the current conventional microbiological assays detect only a restricted panel of pathogens at a time or require a microbe to be successfully cultured from a sample. Clinical metagenomics next-generation sequencing (mNGS) has the potential to unbiasedly detect all pathogens in a sample, increasing the sensitivity for detection and enabling the discovery of unknown infectious agents. High expectations have been built around mNGS; however, this technique is far from widely available. This review highlights the advances and currently available options in terms of costs, turnaround time, sensitivity, specificity, validation, and reproducibility of mNGS as a diagnostic tool in clinical microbiology laboratories. The need for a novel diagnostic tool to increase the sensitivity of microbial diagnostics is clear. mNGS has the potential to revolutionize clinical microbiology. However, its role as a diagnostic tool has yet to be widely established, which is crucial for successfully implementing the technique. A clear definition of diagnostic algorithms that include mNGS is vital to show clinical utility. Similarly to real-time PCR, mNGS will one day become a vital tool in any testing algorithm.
快速而敏感的诊断策略对于患者护理和公共卫生至关重要。目前大多数常规微生物学检测方法一次只能检测有限的一组病原体，或者需要从样本中成功培养出微生物。临床宏基因组下一代测序（mNGS）有可能在不偏倚的情况下检测样本中的所有病原体，提高检测灵敏度并能够发现未知的传染病原体。mNGS 技术备受期待；然而，该技术远未广泛应用。本综述重点介绍了 mNGS 在临床微生物学实验室中作为诊断工具的成本、周转时间、灵敏度、特异性、验证和可重复性方面的进展和现有选择。需要一种新的诊断工具来提高微生物诊断的灵敏度是显而易见的。mNGS 有可能彻底改变临床微生物学。然而，它作为一种诊断工具的作用尚未得到广泛确立，这对于成功实施该技术至关重要。明确包括 mNGS 的诊断算法的定义对于显示临床实用性至关重要。与实时 PCR 一样，mNGS 有朝一日将成为任何检测算法中的重要工具。
