A new ‘metagenomics’ testing service is providing clinical teams around the country with vital information about rare infections – allowing patients to access targeted treatments they desperately need.
Metagenomics is a cutting-edge sequencing genomic technique that allows for the identification of bacteria and other types of infections, and viruses directly from patient samples. Metagenomics is untargeted, meaning it can look for all types of infections, rather than specific infections.
The service is at Great Ormond Street Hospital (GOSH). While it now provides diagnostic testing that can be used as part of a clinical pathway, its establishment was only possible due to continued research investment, with the research benefitting from continuous support from the NIHR Biomedical Research Centres at UCLH and GOSH.
The service is possible thanks to the close connection between a research team at UCL Institute for Child Health led by Professor Judy Breuer, and the clinical teams within GOSH.
Early work setting up the service was supported by Great Ormond Street Hospital Charity, the Reuben foundation and a Wellcome Trust fellowship to UCL’s Dr Sofia Morfopoulou.
In collaboration with Ophthalmologists at Moorfields Eye Hospital NHS Foundation Trust (Moorfields), the service identified a bacterial infection in Ellie’s, 29, eye that had been plaguing her for over 5 years. Her story is covered by the BBC.
Professor Judith Breuer, Professor of Virology at UCL and Honorary Consultant Virologist at GOSH, said: “We have been developing our metagenomics service at GOSH and UCL for over 10 years now and we are incredibly proud to be the first UK accredited service. We are now able to offer this vital genomic testing to patients around the country, and it is amazing to see the impact it is already having for patients like Ellie.”
The team have worked collaboratively with clinicians at GOSH and across the country to develop a diagnostic standard of test ensuring it is available to patients. Currently, the service is used as a final test, when clinicians suspect an infection, but traditional diagnostic techniques have not been able to identify the pathogen. Even where no pathogen is identified, a negative test gives the clinical team confidence to stop antimicrobials or administer strong drugs to suppress inflammation.
Dr Julianne Brown, Principal Clinical Scientist of the GOSH metagenomics service, said: “Being part of the GOSH metagenomics service, since its origins, has meant I have had the privilege of watching it grow from research to an established, accredited clinical service that tests 6 samples a week for patients across the country. It is only thanks to the collaboration between dedicated scientists and clinical teams that a service like this is possible."
Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics in the NHS said: "The application of this cutting-edge genomic technology represents a significant leap forward in infectious disease diagnosis and treatment. By identifying previously undetectable pathogens, targeted treatments can now be given to patients in need. This is yet another example of the exceptional progress the NHS is making in the field of metagenomics, supported by the work we are delivering through our metagenomics network of excellence."
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