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Diagnosing Pulmonary Tuberculosis with the Xpert MTB/RIF Test
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Targeted next-generation sequencing for rapid tuberculosis detection: a systematic review and meta-analysis.

Boya Gou1, Chuyao Zhang1, Zhe Song1

  • 1National Clinical Research Center for Infectious Diseases, Shenzhen Third People's Hospital, Shenzhen 518112, China.

Clinica Chimica Acta; International Journal of Clinical Chemistry
|July 9, 2025
PubMed
Summary

Targeted next-generation sequencing (tNGS) shows high accuracy for tuberculosis diagnosis. Its performance varies by sample type and sequencing platform, suggesting optimized application for better patient management.

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Area of Science:

  • Medical Diagnostics
  • Genomic Sequencing
  • Infectious Disease Research

Background:

  • Targeted next-generation sequencing (tNGS) is a WHO-endorsed tool for tuberculosis diagnosis.
  • Comprehensive evaluation of tNGS performance across diverse clinical scenarios is lacking.

Purpose of the Study:

  • To investigate the diagnostic performance of tNGS for tuberculosis.
  • To evaluate how clinical scenarios (populations, sample/tuberculosis types, platforms) influence tNGS accuracy.

Main Methods:

  • Systematic literature search of multiple databases (PubMed, MEDLINE, etc.) for studies from 2005-2024.
  • Quality assessment using QUADAS-2 tool and calculation of diagnostic accuracy metrics (sensitivity, specificity).
  • Meta-analysis of 16 studies including 2,565 participants.

Main Results:

  • Overall pooled sensitivity: 0.86, specificity: 0.95.
  • Highest sensitivity observed with bronchoalveolar lavage fluid (0.91) and nanopore sequencing (0.85).
  • tNGS showed significantly higher detection rates than GeneXpert MTB/RIF (OR: 1.78).

Conclusions:

  • tNGS exhibits high diagnostic accuracy for tuberculosis.
  • Performance is influenced by sample type and sequencing platform.
  • Findings support optimizing tNGS for specific clinical settings to improve tuberculosis management.