[Next generation sequencing for the diagnostics and epidemiology of tuberculosis]

Abstract

Tuberculosis (TB) has overtaken HIV (human immunodeficiency virus) and malaria as the leading cause of death by an infectious disease worldwide. The reduction in the TB incidence is a modest 2% of cases per year, thus we will need 200 years to eradicate the disease. Part of the problem is that TB control tools are decades old and cannot anymore contribute to accelerate eradication of TB. New diagnostics, treatments and vaccines are urgently needed. Next generation sequencing has the potential to become one of these new tools. Genomic characterization of TB isolates is already showing its potential for epidemiology and diagnostics, particularly to identify drug resistance mutations. However, the experimental and bioinformatics skills needed are still far from being standardized and are not easy to incorporate as a routine in clinical laboratories. In this review we will describe current next generation sequencing approaches applied to the Mycobacterium tuberculosis complex, their contribution to the diagnostics and epidemiology of the disease and the efforts that are being undertaken to make the technology accessible to public health and clinical microbiology laboratories.

Keywords: Antibiotic resistance; Epidemiología genómica; Genomic epidemiology; Genotipado; Genotyping; Mycobacterium tuberculosis; Resistencia a antibióticos; Secuenciación genómica; Whole genome sequencing.