Moreno-Molina Miguel, Comas Iñaki, Furió Victoria
Biomedicine Institute of Valencia (CSIC), Valencia, Spain.
Biomedicine Institute of Valencia (CSIC), Valencia, Spain; CIBER in Epidemiology and Public Health, Spain.
Arch Bronconeumol (Engl Ed). 2019 Aug;55(8):421-426. doi: 10.1016/j.arbres.2019.01.002. Epub 2019 Feb 20.
Tuberculosis resistance diagnostics have vastly improved in recent years thanks to the development of standardised phenotypic and molecular testing methods. However, these methods are either slow or limited in the number of resistant genotypes they can detect. With the advent of next-generation sequencing (NGS) we can sidestep all those problems, as we can sequence whole tuberculosis genomes at increasingly smaller costs and requiring less and less DNA. In this review, we explain how accumulated knowledge in the field has allowed us to go from phenotypic testing to molecular methods to Whole Genome Sequencing (WGS) for resistance diagnostics. We compare current diagnostic methods with WGS as to their efficacy in detecting resistant cases, and show how forthcoming advances in NGS technologies will be crucial in widespread implementation of WGS as a diagnostic tool.
近年来,由于标准化表型和分子检测方法的发展,结核病耐药性诊断有了很大改进。然而,这些方法要么速度慢,要么能检测的耐药基因型数量有限。随着下一代测序(NGS)的出现,我们可以避开所有这些问题,因为我们能够以越来越低的成本对整个结核病菌基因组进行测序,而且所需的DNA越来越少。在这篇综述中,我们解释了该领域积累的知识是如何使我们从表型检测发展到分子方法,再到用于耐药性诊断的全基因组测序(WGS)的。我们将当前的诊断方法与WGS在检测耐药病例方面的功效进行了比较,并展示了NGS技术即将取得的进展对于WGS作为一种诊断工具的广泛应用将如何至关重要。