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Molecular diagnostics for tuberculosis.

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Genotypic methods are increasingly replacing traditional tuberculosis diagnostics. Nucleic acid amplification tests offer rapid detection and resistance profiling, with potential to replace culture and phenotypic drug susceptibility testing.

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Area of Science:

  • Microbiology
  • Infectious Diseases
  • Diagnostic Technologies

Background:

  • Phenotypic methods like smear microscopy, culture, and indirect drug susceptibility testing (DST) are the established gold standard for tuberculosis (TB) diagnosis.
  • Genotypic methods are emerging as powerful alternatives, offering rapid and accurate detection capabilities.

Purpose of the Study:

  • To review the current landscape and future potential of genotypic diagnostic methods for tuberculosis.
  • To assess the role of nucleic acid amplification tests (NAATs) and whole genome sequencing in TB diagnostics.

Main Methods:

  • Review of current literature on genotypic and phenotypic TB diagnostic methods.
  • Analysis of the performance and applications of next-generation NAATs and whole genome sequencing.

Main Results:

  • Current-generation NAATs are valuable supplementary tests for rapid detection of TB, including multidrug-resistant strains.
  • Genotypic detection is the preferred method for identifying resistance to rifampicin and pyrazinamide.
  • Next-generation NAATs show promise in replacing culture as an initial TB detection test.
  • Whole genome sequencing has the potential to replace phenotypic DST, pending further standardization and research.

Conclusions:

  • Genotypic methods are ascendant in TB diagnostics, offering speed and improved resistance detection.
  • Widespread implementation of advanced genotypic tests in low-income countries presents a significant challenge due to complexity and cost.