The Next Frontier in Tuberculosis Investigation: Automated Whole Genome Sequencing for Mycobacterium tuberculosis Analysis

Int J Mol Sci. 2024 Jul 19;25(14):7909. doi: 10.3390/ijms25147909.

Abstract

A fully automated bacteria whole genome sequencing (WGS) assay was evaluated to characterize Mycobacterium tuberculosis (MTB) and non-tuberculosis Mycobacterium (NTM) clinical isolates. The results generated were highly reproducible, with 100% concordance in species and sub-lineage classification and 92% concordance between antimicrobial resistance (AMR) genotypic and phenotypic profiles. Using extracted deoxyribonucleic acid (DNA) from MTB clinical isolates as starting material, these findings demonstrate that a fully automated WGS assay, with a short turnaround time of 24.5 hours, provides timely and valuable insights into MTB outbreak investigation while providing reliable genotypic AMR profiling consistent with traditional antimicrobial susceptibility tests (AST). This study establishes a favorable proposition for the adoption of end-to-end fully automated WGS solutions for decentralized MTB diagnostics, thereby aiding in World Health Organization's (WHO) vision of tuberculosis eradication.

Keywords: Mycobacterium tuberculosis; antimicrobial resistance; automation; decentralized diagnostics; whole genome sequencing.

MeSH terms

  • DNA, Bacterial / genetics
  • Drug Resistance, Bacterial / genetics
  • Genome, Bacterial*
  • Genotype
  • Humans
  • Microbial Sensitivity Tests
  • Mycobacterium tuberculosis* / drug effects
  • Mycobacterium tuberculosis* / genetics
  • Mycobacterium tuberculosis* / isolation & purification
  • Tuberculosis* / diagnosis
  • Tuberculosis* / drug therapy
  • Tuberculosis* / microbiology
  • Whole Genome Sequencing* / methods

Substances

  • DNA, Bacterial

Grants and funding

This research received no external funding.