A breakthrough diagnostic test identified a rare bacterial infection that had plagued a woman’s health for five years, saving her vision. A cutting-edge genomic sequencing test diagnosed the cause of her long-lasting eye inflammation, allowing her to restore her eyesight and live a normal life.
A 29-year-old doctor from Bristol, Ellie Irwin, has had her eyesight saved after a ‘game-changing‘ test identified a rare bacterial infection that had plagued her health for five years. The test, called metagenomics, uses cutting-edge genomic sequencing to identify all bacteria, fungi, or parasites present in a sample.
Diagnosing the Unknown
Ellie’s eye inflammation began in 2019 while she was still at medical school. Despite numerous tests and treatments, including steroid eye drops and immunosuppressants, her condition persisted. It wasn’t until Ellie was offered a ‘last resort‘ analysis called metagenomics that the cause of her long-lasting eye inflammation was finally identified.
A Rare Diagnosis
The metagenomics test diagnosed a rare strain of the bacterial infection leptospirosis found in South America. It is now presumed that Ellie picked up the bug swimming in the Amazon river in 2018, while on a trip to Ecuador and Colombia.
The Power of Metagenomics
Metagenomics technology has revolutionized the diagnosis of infectious diseases. Unlike standard diagnostic tools, which rely on trying to grow a sample of bacteria or viruses in a Petri dish, metagenomics uses genomic sequencing to identify all pathogens present in a sample. This approach is particularly useful for diagnosing rare and unexpected infections.
Metagenomics is the study of genetic material recovered directly from environmental samples, bypassing the need for culturing microorganisms.
This approach allows researchers to explore microbial communities and their functions in unprecedented detail.
By analyzing DNA sequences, scientists can identify novel species, understand ecosystem dynamics, and gain insights into the evolution of antibiotic resistance.
Metagenomics has far-reaching applications in fields like medicine, ecology, and biotechnology.
A Breakthrough in Diagnosis
Professor Carlos Pavesio, consultant ophthalmologist at Moorfields Eye Hospital in London, says Ellie’s case is a ‘breakthrough in the diagnosis of infectious diseases.‘ Dr. Julianne Brown, principal clinical scientist at the GOSH metagenomics service, agrees that metagenomics is an ‘enormous step up‘ and a complete game-changer.
A New Era for Infection Diagnosis
As the technology continues to develop, it’s likely that metagenomics will become a first-line test for diagnosing infection in any sample. The cost of the test is currently around £1,300, but as the technology advances, this price is expected to fall rapidly. Dr. Judy Breuer, virologist and developer of metagenomics at GOSH and University College London, says that her team receives three or four samples a week from hospitals around the UK for metagenomic testing in addition to those they carry out on their own patients.
A New Lease on Life
For Ellie Irwin, resolving her eye problems has allowed her to concentrate on her training as a GP and arrange her wedding. She was married in Newcastle on 29 March, just days after her eyesight had been restored. The couple even got a shout-out from Ant and Dec and went up on a scissor lift above the Newcastle United fans, which was an incredible experience for Ellie.
In conclusion, metagenomics has revolutionized the diagnosis of infectious diseases, particularly in cases where standard diagnostic tools have failed to identify or rule out infection. As the technology continues to develop, it’s likely that metagenomics will become a first-line test for diagnosing infection in any sample, leading to better outcomes for patients like Ellie Irwin.
