A streamlined clinical metagenomic sequencing protocol for rapid pathogen identification

Sci Rep. 2021 Feb 23;11(1):4405. doi: 10.1038/s41598-021-83812-x.

Abstract

Metagenomic next-generation sequencing (mNGS) holds promise as a diagnostic tool for unbiased pathogen identification and precision medicine. However, its medical utility depends largely on assay simplicity and reproducibility. In the current study, we aimed to develop a streamlined Illumina and Oxford Nanopore-based DNA/RNA library preparation protocol and rapid data analysis pipeline. The Illumina sequencing-based mNGS method was first developed and evaluated using a set of samples with known aetiology. Its sensitivity for RNA viruses (influenza A, H1N1) was < 6.4 × 102 EID50/mL, and a good correlation between viral loads and mapped reads was observed. Then, the rapid turnaround time of Nanopore sequencing was tested by sequencing influenza A virus and adenoviruses. Furthermore, 11 respiratory swabs or sputum samples pre-tested for a panel of pathogens were analysed, and the pathogens identified by Illumina sequencing showed 81.8% concordance with qPCR results. Additional sequencing of cerebrospinal fluid (CSF) samples from HIV-1-positive patients with meningitis/encephalitis detected HIV-1 RNA and Toxoplasma gondii sequences. In conclusion, we have developed a simplified protocol that realizes efficient metagenomic sequencing of a variety of clinical samples and pathogen identification in a clinically meaningful time frame.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenoviridae / genetics*
  • Adenoviridae / isolation & purification
  • Adenoviridae / pathogenicity
  • Cerebrospinal Fluid / parasitology
  • Cerebrospinal Fluid / virology
  • HIV / genetics*
  • HIV / isolation & purification
  • HIV / pathogenicity
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Metagenomics / methods*
  • Molecular Diagnostic Techniques / methods*
  • Orthomyxoviridae / genetics*
  • Orthomyxoviridae / isolation & purification
  • Orthomyxoviridae / pathogenicity
  • Sputum / virology
  • Toxoplasma / genetics
  • Toxoplasma / isolation & purification
  • Toxoplasma / pathogenicity