Metagenomic testing, a diagnostic technique that sequences all genetic material in a sample, has been deployed at Great Ormond Street Hospital (GOSH) in London to identify infections in critically ill children. Unlike conventional testing methods that require clinicians to identify specific pathogens in advance, metagenomics can detect bacteria, viruses, and fungi simultaneously from a single respiratory sample.
During a study conducted in 2024-5, metagenomic testing was applied to 122 critically ill children in the paediatric intensive care unit at GOSH. The testing identified around nine in 10 bacteria and viruses and all fungi in samples analyzed. Results were published in the Lancet Microbe. In a quarter of cases, the test findings influenced treatment decisions, including starting, stopping, or changing antibiotics prescribed to patients. The test also detected 50 organisms that were not identified by routine diagnostics.
10-year-old Willow Crowther was among the patients who benefited from the technology. Admitted to GOSH’s intensive care in March with pneumonia that triggered seizures and cardiac arrests, Willow was initially given a 50% survival prognosis. Metagenomic testing revealed she had a drug-resistant bacterial infection requiring different antibiotic treatment than initially prescribed. Following the corrected treatment regimen, Willow recovered, though she required several months of hospitalization.
Dr Sam Ray, consultant in paediatric intensive care medicine at GOSH, noted that traditional testing requires clinicians to make educated assumptions about which infection they are investigating. Metagenomics testing removes this limitation and helps identify infections that would otherwise be missed, enabling appropriate treatment and discontinuation of unnecessary antibiotics—a factor relevant to addressing antimicrobial resistance.
The metagenomic testing service at GOSH is being gradually expanded to approximately 30 intensive care units across the UK treating both adult and pediatric patients. Dr Julianne Brown, head of the GOSH Metagenomics Service, suggested the technology could serve as an early warning system for novel pathogens and play a role in pandemic preparedness by enabling rapid identification of new mystery pathogens.
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