Encephalitis diagnosis using metagenomics: application of next generation sequencing for undiagnosed cases.

Encephalitis diagnosis using metagenomics: application of next generation sequencing for undiagnosed cases.
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DOI:
10.1016/j.jinf.2017.12.014
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发表时间:
2018-03
期刊:
The Journal of infection
影响因子:
--
通讯作者:
Breuer J
Breuer J
中科院分区:
其他
文献类型:
--
作者:
Brown JR;Bharucha T;Breuer J

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目前的估计表明,即使在资源最充足的情况下,脑炎的病因也不到一半的临床病例。人们承认,填补这一空白需要将严格的取样和改进的诊断技术结合起来。下一代测序(NGS)方法是一种强大的工具,具有全面和公正检测临床样本中病原体的潜力。我们回顾了使用这种新技术诊断疑似传染性脑炎,并讨论了引入NGS方法作为一线诊断试验的可行性。使用MESH和文本词搜索Medline和EMbase中的"测序"和"脑炎"变体,并使用Web of Science数据库搜索参考书目和引文,进行了系统的文献综述。两位作者独立审查、提取和总结了数据。该综述确定了25篇文章,报告了44例疑似脑炎患者的病例报告,其中NGS被用作诊断工具。我们提出的数据和突出的主题,从这些情况下产生的。没有随机对照试验来评估NGS作为诊断工具的效用。越来越多的证据表明NGS在未确诊脑炎的检查中起作用。这些技术的低成本和可及性的提高将促进对这些患者的更大规模研究。我们建议NGS应被视为慢性和复发性疾病的一线诊断测试,并考虑到目前的样本到结果的周转时间,作为急性脑炎病例的二线诊断测试。
Current estimates suggest that even in the most resourced settings, the aetiology of encephalitis is identified in less than half of clinical cases. It is acknowledged that filling this gap needs a combination of rigorous sampling and improved diagnostic technologies. Next generation sequencing (NGS) methods are powerful tools with the potential for comprehensive and unbiased detection of pathogens in clinical samples. We reviewed the use of this new technology for the diagnosis of suspected infectious encephalitis, and discuss the feasibility for introduction of NGS methods as a frontline diagnostic test. A systematic literature review was performed, using MESH and text word searches for variants of “sequencing” and “encephalitis” in Medline and EMbase, and searching bibliographies and citations using the Web of Science database. Two authors independently reviewed, extracted and summarised data. The review identified 25 articles reporting 44 case reports of patients with suspected encephalitis for whom NGS was used as a diagnostic tool. We present the data and highlight themes arising from these cases. There are no randomly controlled trials to assess the utility of NGS as a diagnostic tool. There is increasing evidence of a role for NGS in the work-up of undiagnosed encephalitis. Lower costs and increasing accessibility of these technologies will facilitate larger studies of these patients. We recommend NGS should be considered as a front-line diagnostic test in chronic and recurring presentations and, given current sample-to-result turn-around times, as second-line in acute cases of encephalitis.
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