1 day Ago By The Telegraph
A new genetic test has restored the vision of a doctor who almost had her eye surgically removed. Dr Ellie Irwin, 29, suffered for five years with a rare bacterial eye infection that left her on the cusp of losing her eye. Doctors had been unable to identify the cause of the problem that first manifested in 2019 before Dr Irwin was referred to a new service at Great Ormond Street Hospital (GOSH) specialising in genomics, or the study of a person’s whole DNA.
The metagenomics team at the London hospital were able to pinpoint the issue using a test that identified bacterial infections and viruses from patient samples. The sample revealed a rare bacterial infection – a very specific strain of leptospirosis – that was cleared up after a three-week course of antibiotics, restoring her eyesight in time for her wedding earlier this year. Dr Irwin, from Bristol, said: “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. 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.
” Dr Irwin started to have problems in her right eye in 2019 when she was a medical student. She was initially diagnosed with a condition that causes inflammation in the eye, and despite treatment, her symptoms worsened. A horde of tests looking for infections had come back negative.
“I had really just reached my breaking point; my team had tried every test to find a cause and the intensive treatments and multiple appointments were severely impacting my life,” Dr Irwin said. “I had got to the point that I began to discuss with my team my wish to have the affected eye removed.” Her doctors at Moorfields Eye Hospital in London decided to reach out to the metagenomics team at GOSH, who took a sample from her eye.
A sequencing technique was then used to identify bacteria and other types of infections or viruses from patient samples. The test was “untargeted”, meaning it could look for all types of infections, rather than only testing for a single one. The service is currently only used to identify a suspected infection once medics have exhausted all alternatives, with six samples analysed each week from patients across the country.
‘Amazing to see impact’ Judith Breuer, professor of virology at University College London (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.” Carlos Pavesio, a consultant ophthalmologist at Moorfields Eye Hospital, said: “We are delighted that this new service enabled us to identify Ellie’s infection and treat it.
“As a result of this, we were able to address the source of her recurrent inflammation. “We are excited about the opportunities this opens up and have already initiated a clinical trial on the use of metagenomics for hard-to-diagnose eye infections .”.
