National Center for Clinical Laboratories, Beijing Hospital, National Center of Gerontology; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, P.R. China.
Graduate School, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, P.R. China.
Theranostics. 2020 Apr 7;10(12):5501-5513. doi: 10.7150/thno.45554. eCollection 2020.
Metagenomic next-generation sequencing (mNGS) of microbial cell-free DNA (mcfDNA sequencing) is becoming an attractive diagnostic modality for infectious diseases, allowing broad-range pathogen detection, noninvasive sampling, and rapid diagnosis. At this key juncture in the translation of metagenomics into clinical practice, an integrative perspective is needed to understand the significance of emerging mcfDNA sequencing technology. In this review, we summarized the actual performance of the mcfDNA sequencing tests recently used in health care settings for the diagnosis of a variety of infectious diseases and further focused on the practice considerations (challenges and solutions) for improving the accuracy and clinical relevance of the results produced by this evolving technique. Such knowledge will be helpful for physicians, microbiologists and researchers to understand what is going on in this quickly progressing field of non-invasive pathogen diagnosis by mcfDNA sequencing and promote the routine implementation of this technique in the diagnosis of infectious disease.
宏基因组下一代测序（mNGS）的微生物无细胞 DNA（mcfDNA 测序）正在成为一种有吸引力的传染病诊断方式，它可以进行广泛的病原体检测、非侵入性采样和快速诊断。在将宏基因组学转化为临床实践的这个关键时刻，需要有一个综合的视角来理解新兴的 mcfDNA 测序技术的意义。在这篇综述中，我们总结了最近在医疗保健环境中用于诊断各种传染病的 mcfDNA 测序检测的实际性能，并进一步关注了提高该不断发展的技术产生的结果的准确性和临床相关性的实践考虑因素（挑战和解决方案）。这些知识将有助于医生、微生物学家和研究人员了解通过 mcfDNA 测序进行非侵入性病原体诊断这一快速发展领域的情况，并促进该技术在传染病诊断中的常规应用。
