National Center for Clinical Laboratories, Beijing Hospital, National Center of Gerontology, Beijing, People's Republic of China.
Graduate School, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Crit Rev Microbiol. 2019 Sep-Nov;45(5-6):668-685. doi: 10.1080/1040841X.2019.1681933. Epub 2019 Nov 6.
Metagenomic next-generation sequencing (mNGS) is increasingly being applied in clinical laboratories for unbiased culture-independent diagnosis. Whether it can be a next routine pathogen identification tool has become a topic of concern. We review the current implementation of this new technology for infectious disease diagnostics and discuss the feasibility of transforming mNGS into a routine diagnostic test. Since 2008, numerous studies from over 20 countries have revealed the practicality of mNGS in the work-up of undiagnosed infectious diseases. mNGS performs well in identifying rare, novel, difficult-to-detect and coinfected pathogens directly from clinical samples and presents great potential in resistance prediction by sequencing the antibiotic resistance genes, providing new diagnostic evidence that can be used to guide treatment options and improve antibiotic stewardship. Many physicians recognized mNGS as a last resort method to address clinical infection problems. Although several hurdles, such as workflow validation, quality control, method standardisation, and data interpretation, remain before mNGS can be implemented routinely in clinical laboratories, they are temporary and can be overcome by rapidly evolving technologies. With more validated workflows, lower cost and turnaround time, and simplified interpretation criteria, mNGS will be widely accepted in clinical practice. Overall, mNGS is transforming the landscape of clinical microbiology laboratories, and to ensure that it is properly utilised in clinical diagnosis, both physicians and microbiologists should have a thorough understanding of the power and limitations of this method.
宏基因组下一代测序（mNGS）正越来越多地应用于临床实验室，用于进行非培养依赖性的、客观的病原体检测。mNGS 是否可以成为一种常规的病原体鉴定工具已成为关注的焦点。我们回顾了这项新技术在感染性疾病诊断中的应用现状，并讨论了将 mNGS 转化为常规诊断检测的可行性。自 2008 年以来，来自 20 多个国家的大量研究揭示了 mNGS 在不明原因感染性疾病诊断中的实用性。mNGS 可直接从临床样本中识别罕见、新型、难以检测和混合感染的病原体，在测序抗生素耐药基因以预测耐药性方面具有很大的潜力，为治疗方案提供新的诊断依据，改善抗生素管理。许多医生将 mNGS 视为解决临床感染问题的最后手段。尽管在将 mNGS 常规应用于临床实验室之前，仍存在工作流程验证、质量控制、方法标准化和数据解释等方面的障碍，但这些障碍是暂时的，可以通过快速发展的技术来克服。随着更多经过验证的工作流程、更低的成本和周转时间，以及简化的解释标准，mNGS 将在临床实践中得到广泛应用。总之，mNGS 正在改变临床微生物学实验室的格局，为了确保其在临床诊断中得到正确应用，医生和微生物学家都应该充分了解这种方法的优势和局限性。
