Key points from article :
A cutting-edge genetic test has helped save a young doctor’s eyesight after years of unexplained illness. Ellie Irwin, 29, from Bristol, suffered from severe inflammation in her right eye for five years. Despite numerous tests and treatments—including powerful immunosuppressants—no cause could be found, and her symptoms worsened to the point she considered having her eye removed.
The breakthrough came when doctors used metagenomics, a high-tech sequencing method that can scan for thousands of pathogens in a single test. Unlike traditional diagnostics, which rely on growing bacteria or testing for known viruses, metagenomics casts a much wider net—making it ideal for mysterious cases. A fluid sample from Ellie’s eye, analysed at the UK’s only accredited metagenomics lab at Great Ormond Street Hospital, revealed a rare bacterial infection called leptospirosis, likely contracted during a 2018 trip to South America.
Lead scientists including Dr Julianne Brown and Professor Judy Breuer say this case, published by the BBC, highlights the game-changing potential of metagenomics to diagnose infections where standard tests fail. Ellie was cured with a short course of antibiotics and has since returned to her GP training and celebrated her wedding day, calling the test “transformative.”
