The potential of whole genome NGS for infectious disease diagnosis

Expert Rev Mol Diagn. 2015;15(12):1517-9. doi: 10.1586/14737159.2015.1111140. Epub 2015 Nov 7.

Abstract

Non-targeted identification of microbes is now possible directly in biological samples, based on whole-genome-NGS (WG-NGS) techniques that allow deep sequencing of nucleic acids, data mining and sorting out of sequences of pathogens without any a priori hypothesis. WG-NGS was first only used as a research tool due to its cost, complexity and lack of standardization. Recent improvements in sample preparation and bioinformatics pipelines and decrease in cost now allow actionable diagnostics in patients. The potency and limits of WG-NGS and possible future indications are discussed here. WG-NGS will likely soon become a standard procedure in microbiological diagnosis.

Keywords: NGS; bacteria; diagnostic; fungus; infectious diseases; virus.

Publication types

  • Editorial

MeSH terms

  • Communicable Diseases / diagnosis*
  • Communicable Diseases / microbiology
  • Communicable Diseases / virology
  • Genome, Bacterial
  • Genome, Fungal
  • Genome, Microbial*
  • Genome, Viral
  • High-Throughput Nucleotide Sequencing* / methods
  • Humans