Lee Robyn S, Behr Marcel A
McGill University, Department of Epidemiology, Biostatistics and Occupational Health, The Research Institute of the McGill University Health Centre and McGill International TB Centre, Montreal, QC, Canada.
Ther Adv Infect Dis. 2016 Apr;3(2):47-62. doi: 10.1177/2049936115624630. Epub 2015 Dec 30.
The availability of whole-genome sequencing (WGS) as a tool for the diagnosis and clinical management of tuberculosis (TB) offers considerable promise in the fight against this stubborn epidemic. However, like other new technologies, the best application of WGS remains to be determined, for both conceptual and technical reasons. In this review, we consider the potential value of WGS in the clinical laboratory for the detection of Mycobacterium tuberculosis and the prediction of antibiotic resistance. We also discuss issues pertaining to data generation, interpretation and dissemination, given that WGS has to date been generally performed in research labs where results are not necessarily packaged in a clinician-friendly format. Although WGS is far more accessible now than it was in the past, the transition from a research tool to study TB into a clinical test to manage this disease may require further fine-tuning. Improvements will likely come through iterative efforts that involve both the laboratories ready to move TB into the genomic era and the front-line clinical/public health staff who will be interpreting the results to inform management decisions.
全基因组测序（WGS）作为一种用于结核病（TB）诊断和临床管理的工具，在抗击这一顽固流行病的斗争中具有巨大潜力。然而，与其他新技术一样，由于概念和技术原因，WGS的最佳应用仍有待确定。在本综述中，我们考虑了WGS在临床实验室中检测结核分枝杆菌和预测抗生素耐药性的潜在价值。我们还讨论了与数据生成、解释和传播相关的问题，因为迄今为止，WGS通常是在研究实验室中进行的，其结果不一定以临床医生友好的格式呈现。尽管现在WGS比过去更容易获得，但从研究结核病的工具转变为管理这种疾病的临床检测可能需要进一步微调。改进可能需要通过迭代努力来实现，这涉及到准备将结核病研究带入基因组时代的实验室以及将解释结果以指导管理决策的一线临床/公共卫生人员。
