Batool Maliha, Galloway-Peña Jessica
Department of Veterinary Pathobiology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX, United States.
Front Microbiol. 2023 Jun 28;14:1186424. doi: 10.3389/fmicb.2023.1186424. eCollection 2023.
Infections lacking precise diagnosis are often caused by a rare or uncharacterized pathogen, a combination of pathogens, or a known pathogen carrying undocumented or newly acquired genes. Despite medical advances in infectious disease diagnostics, many patients still experience mortality or long-term consequences due to undiagnosed or misdiagnosed infections. Thus, there is a need for an exhaustive and universal diagnostic strategy to reduce the fraction of undocumented infections. Compared to conventional diagnostics, metagenomic next-generation sequencing (mNGS) is a promising, culture-independent sequencing technology that is sensitive to detecting rare, novel, and unexpected pathogens with no preconception. Despite the fact that several studies and case reports have identified the effectiveness of mNGS in improving clinical diagnosis, there are obvious shortcomings in terms of sensitivity, specificity, costs, standardization of bioinformatic pipelines, and interpretation of findings that limit the integration of mNGS into clinical practice. Therefore, physicians must understand the potential benefits and drawbacks of mNGS when applying it to clinical practice. In this review, we will examine the current accomplishments, efficacy, and restrictions of mNGS in relation to conventional diagnostic methods. Furthermore, we will suggest potential approaches to enhance mNGS to its maximum capacity as a clinical diagnostic tool for identifying severe infections.
缺乏精确诊断的感染通常由罕见或未定性的病原体、多种病原体组合，或携带未记录或新获得基因的已知病原体引起。尽管传染病诊断技术取得了医学进步，但许多患者仍因未确诊或误诊的感染而死亡或出现长期后果。因此，需要一种详尽且通用的诊断策略来减少未确诊感染的比例。与传统诊断方法相比，宏基因组下一代测序（mNGS）是一种很有前景的、无需培养的测序技术，它能够在无先入之见的情况下灵敏地检测罕见、新型和意外的病原体。尽管多项研究和病例报告已证实mNGS在改善临床诊断方面的有效性，但在灵敏度、特异性、成本、生物信息学流程的标准化以及结果解读等方面仍存在明显不足，这些不足限制了mNGS在临床实践中的应用。因此，医生在将mNGS应用于临床实践时必须了解其潜在的益处和弊端。在本综述中，我们将探讨mNGS相对于传统诊断方法的当前成果、功效和局限性。此外，我们将提出潜在的方法，以将mNGS的能力提升至最大限度，使其成为识别严重感染的临床诊断工具。
