United States: The metagenomic test created by UCL and Great Ormond Street Hospital for Children (GOSH) researchers extends crucial information about rare infections to medical teams nationwide so patients can access critical targeted treatments.
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The research team at UCL collaborated with the GOSH Microbiology department and clinical staff at GOSH to develop the test under the guidance of Professor Judith Breuer (UCL Great Ormond Street Institute of Child Health and GOSH).
The GOSH Metagenomics Service delivers the testing to its clients. The test achieved a major success when patient medical professionals diagnosed an eye bacterial infection that endured for over five years.
The medical testing performed up to that point failed to determine a cause for Ellie’s eyes and forced her to contemplate eye surgery.
The GOSH metagenomics group successfully identified an uncommon bacterial infection because of the test results.
After receiving specific antibiotic treatment, Ellie’s symptoms vanished, which led to the successful restoration of her eyesight right before her wedding ceremony this year, miragenews.com reported.
What an incredible story about how #metagenomics (the study of all the genomes in a given sample) saved a woman's eyesight after a long-running mystery infection. https://t.co/9f3ev8GcQj
— Genomics Education (@genomicsedu) May 1, 2025
“I will never be able to thank the teams that continued to fight to find answers for me enough. Metagenomics has truly been game-changing for me. I spent Boxing Day of 2023 in hospital, thinking about whether it was time to have my eye removed,” as Ellie mentioned.
“Now, I can’t even imagine being back in that place, I am able to get back to focusing on my life – being able to have that for my wedding day is a priceless gift,” she continued.
Metagenomics serves as an innovative sequencing genomic technology that enables the direct identification of bacteria alongside multiple types of infections and viruses from patient-based samples.
Metagenomics performs broad-scale testing, which enables it to detect all kinds of pathogens regardless of specific targets.
As the first UK laboratory for such testing, Professor Breuer’s service obtained accreditation from the UK Accreditation Service (UKAS).
This facility exists to inspect how sequencing methods improve the detection of pathogens in sites that typically lack such agents, like brain spaces and central nervous system areas and the liver, as well as the space behind an eye.
According to Professor Breuer, “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,” miragenews.com reported.
“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,” Breuer continued.