Proficiency testing for bacterial whole genome sequencing in assuring the quality of microbiology diagnostics in clinical and public health laboratories

Pathology. 2021 Dec;53(7):902-911. doi: 10.1016/j.pathol.2021.03.012. Epub 2021 Jul 15.


The adoption of whole genome sequencing (WGS) data over the past decade for pathogen surveillance, and decision-making for infectious diseases has rapidly transformed the landscape of clinical microbiology and public health. However, for successful transition to routine use of these techniques, it is crucial to ensure the WGS data generated meet defined quality standards for pathogen identification, typing, antimicrobial resistance detection and surveillance. Further, the ongoing development of these standards will ensure that the bioinformatic processes are capable of accurately identifying and characterising organisms of interest, and thereby facilitate the integration of WGS into routine clinical and public health laboratory setting. A pilot proficiency testing (PT) program for WGS of infectious agents was developed to facilitate widely applicable standardisation and benchmarking standards for WGS across a range of laboratories. The PT participating laboratories were required to generate WGS data from two bacterial isolates, and submit the raw data for independent bioinformatics analysis, as well as analyse the data with their own processes and answer relevant questions about the data. Overall, laboratories used a diverse range of bioinformatics tools and could generate and analyse high-quality data, either meeting or exceeding the minimum requirements. This pilot has provided valuable insight into the current state of genomics in clinical microbiology and public health laboratories across Australia. It will provide a baseline guide for the standardisation of WGS and enable the development of a PT program that allows an ongoing performance benchmark for accreditation of WGS-based test processes.

Keywords: Quality assurance; diagnostics; microbiology; proficiency testing; whole genome sequencing.

MeSH terms

  • Accreditation
  • Australia / epidemiology
  • Bacteria / genetics*
  • Benchmarking / standards*
  • Genome, Bacterial / genetics*
  • Genomics
  • Humans
  • Laboratories / standards*
  • Laboratories, Clinical / standards
  • Laboratory Proficiency Testing
  • Public Health
  • Whole Genome Sequencing / standards*