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| Metagenomics test saves woman's sight after mystery infection | Metagenomics test saves woman's sight after mystery infection |
| (about 5 hours later) | |
| Dr Ellie Irwin's sight has been saved after a test pinpointed the cause of her long-lasting eye inflammation | Dr Ellie Irwin's sight has been saved after a test pinpointed the cause of her long-lasting eye inflammation |
| A 29-year-old doctor from Bristol has had her eyesight saved after a "game-changing" test identified a mystery infection that had plagued her health for five years. | A 29-year-old doctor from Bristol has had her eyesight saved after a "game-changing" test identified a mystery infection that had plagued her health for five years. |
| Ellie Irwin suffered persistent inflammation in her right eye resulting in blurred vision and underwent intensive treatment to no avail. At one point she even considered having her eye removed. | Ellie Irwin suffered persistent inflammation in her right eye resulting in blurred vision and underwent intensive treatment to no avail. At one point she even considered having her eye removed. |
| It was only after Ellie was offered a "last resort" analysis called metagenomics, that she was diagnosed with a rare bacterial infection which was cured with antibiotics. | It was only after Ellie was offered a "last resort" analysis called metagenomics, that she was diagnosed with a rare bacterial infection which was cured with antibiotics. |
| "It's been transformative," Ellie told the BBC. "I feel so fortunate." | "It's been transformative," Ellie told the BBC. "I feel so fortunate." |
| Professor Carlos Pavesio, consultant ophthalmologist at Moorfields Eye Hospital in London, says Ellie's case is a "breakthrough in the diagnosis of infectious diseases". | Professor Carlos Pavesio, consultant ophthalmologist at Moorfields Eye Hospital in London, says Ellie's case is a "breakthrough in the diagnosis of infectious diseases". |
| "There are many patients we treat with chronic infections for years, but despite multiple tests we cannot identify the bug responsible," he says. | "There are many patients we treat with chronic infections for years, but despite multiple tests we cannot identify the bug responsible," he says. |
| In 2019, while still at medical school, Ellie began suffering from inflammation in her right eye. All tests for infection came back negative and it was assumed she had an autoimmune condition. | In 2019, while still at medical school, Ellie began suffering from inflammation in her right eye. All tests for infection came back negative and it was assumed she had an autoimmune condition. |
| Ellie was prescribed steroid eye drops and immunosuppressants, some of which needed to be given by intravenous infusion. | Ellie was prescribed steroid eye drops and immunosuppressants, some of which needed to be given by intravenous infusion. |
| "It was completely dominating my life," Ellie says. "I needed eye drops every single hour and it was difficult to balance that alongside starting work as a junior doctor. My vision was really variable, and I would have some bad days. | "It was completely dominating my life," Ellie says. "I needed eye drops every single hour and it was difficult to balance that alongside starting work as a junior doctor. My vision was really variable, and I would have some bad days. |
| "I was on so much medication and going to so many appointments, yet I didn't feel I was getting any better." | "I was on so much medication and going to so many appointments, yet I didn't feel I was getting any better." |
| The treatment and inflammation led to Ellie developing a cataract that had to be surgically removed, just after she graduated from medical school. | The treatment and inflammation led to Ellie developing a cataract that had to be surgically removed, just after she graduated from medical school. |
| Ellie says she eventually reached "breaking point", and even began considering having her affected eye removed. | Ellie says she eventually reached "breaking point", and even began considering having her affected eye removed. |
| "Whilst losing sight in one eye is terrifying," she says, "my biggest fear was that it might spread to my left eye." | "Whilst losing sight in one eye is terrifying," she says, "my biggest fear was that it might spread to my left eye." |
| Ellie's eye developed a cataract that had to be removed | Ellie's eye developed a cataract that had to be removed |
| It was one of Ellie's doctors at Southmead Hospital in Bristol who suggested metagenomics - a last resort test not generally available to patients and only used where standard diagnostic tools have failed to identify or rule out infection. | It was one of Ellie's doctors at Southmead Hospital in Bristol who suggested metagenomics - a last resort test not generally available to patients and only used where standard diagnostic tools have failed to identify or rule out infection. |
| Metagenomics technology uses cutting-edge genomic sequencing, which can identify all bacteria, fungi or parasites present in a sample by comparing them against a database of millions of pathogens. | |
| A team at Moorfields Eye Hospital arranged for a sample of fluid to be taken from inside Ellie's eye and sent to the metagenomics labs at Great Ormond Street Hospital (GOSH) - the only lab in the UK officially recognised to carry out these diagnostic tests for patients, and one of only a few in the world. | A team at Moorfields Eye Hospital arranged for a sample of fluid to be taken from inside Ellie's eye and sent to the metagenomics labs at Great Ormond Street Hospital (GOSH) - the only lab in the UK officially recognised to carry out these diagnostic tests for patients, and one of only a few in the world. |
| Currently, the standard method for detecting bacterial infections is by trying to grow a sample of it in a Petri dish. | Currently, the standard method for detecting bacterial infections is by trying to grow a sample of it in a Petri dish. |
| For viruses, the most common diagnostic tool is a PCR test. These will be familiar to many from the pandemic, when millions sent off swabs in the post to confirm whether they had Covid. | For viruses, the most common diagnostic tool is a PCR test. These will be familiar to many from the pandemic, when millions sent off swabs in the post to confirm whether they had Covid. |
| However, Dr Julianne Brown, principal clinical scientist at the GOSH metagenomics service, says PCR has some drawbacks. | However, Dr Julianne Brown, principal clinical scientist at the GOSH metagenomics service, says PCR has some drawbacks. |
| "The trouble with PCR is that you have to think of the viruses that might be causing an infection and do a separate test for each and every one," she says. "So if you've got an infection with something that's unexpected, rare or not previously known, you won't find it." | "The trouble with PCR is that you have to think of the viruses that might be causing an infection and do a separate test for each and every one," she says. "So if you've got an infection with something that's unexpected, rare or not previously known, you won't find it." |
| Dr Brown says metagenomics is "an enormous step up - it's a complete game-changer". | Dr Brown says metagenomics is "an enormous step up - it's a complete game-changer". |
| Doctors believe Ellie's eye condition was caused by an infection she caught while swimming in the Amazon | Doctors believe Ellie's eye condition was caused by an infection she caught while swimming in the Amazon |
| In Ellie's case, metagenomics diagnosed a rare strain of the bacterial infection leptospirosis found in South America. | In Ellie's case, metagenomics diagnosed a rare strain of the bacterial infection leptospirosis found in South America. |
| It is now presumed Ellie picked up the bug swimming in the Amazon river in 2018, while on a trip to Ecuador and Colombia. | It is now presumed Ellie picked up the bug swimming in the Amazon river in 2018, while on a trip to Ecuador and Colombia. |
| Ellie says it was an emotional moment when she was given the results of the test. | Ellie says it was an emotional moment when she was given the results of the test. |
| "I broke down - I just had to cry. I never imagined that it would come back positive and be for something that was treatable," she says. | "I broke down - I just had to cry. I never imagined that it would come back positive and be for something that was treatable," she says. |
| "I was given three weeks of antibiotics and within days my vision was clearer and the inflammation subsided." | "I was given three weeks of antibiotics and within days my vision was clearer and the inflammation subsided." |
| A single metagenomics test costs around £1,300, which is far more than standard diagnostics. However, as the technology is developed that price is likely to fall rapidly. | A single metagenomics test costs around £1,300, which is far more than standard diagnostics. However, as the technology is developed that price is likely to fall rapidly. |
| Virologist Professor Judy Breuer, who has been developing metagenomics at GOSH and University College London (UCL) for more than a decade, says her team currently receives three or four samples a week from hospitals around the UK for metagenomic testing in addition to those it carries out on its own patients. | Virologist Professor Judy Breuer, who has been developing metagenomics at GOSH and University College London (UCL) for more than a decade, says her team currently receives three or four samples a week from hospitals around the UK for metagenomic testing in addition to those it carries out on its own patients. |
| These are often samples from parts of the body that are normally sterile sites, where bacteria are not usually found such as the brain, central nervous system, liver and eye. | These are often samples from parts of the body that are normally sterile sites, where bacteria are not usually found such as the brain, central nervous system, liver and eye. |
| "In the future, we think metagenomics will become a first line test and be able to diagnose infection in any sample, probably within the same day," she says. | "In the future, we think metagenomics will become a first line test and be able to diagnose infection in any sample, probably within the same day," she says. |
| It's also likely to become faster, cheaper and easier to do, explains Dr Brown, meaning it will become available to more patients rather than just a small number who are severely unwell. | It's also likely to become faster, cheaper and easier to do, explains Dr Brown, meaning it will become available to more patients rather than just a small number who are severely unwell. |
| Ellie got married in March after her eyesight problems had been resolved | Ellie got married in March after her eyesight problems had been resolved |
| Resolving her eye problems has allowed Ellie to concentrate on her training as a GP and arrange her wedding. | Resolving her eye problems has allowed Ellie to concentrate on her training as a GP and arrange her wedding. |
| Ellie was married in Newcastle on 29 March, the same day the city celebrated Newcastle United's win in the Carabao Cup. | Ellie was married in Newcastle on 29 March, the same day the city celebrated Newcastle United's win in the Carabao Cup. |
| She says: "We got a shout-out from Ant and Dec and went up on a scissor lift above the Newcastle United fans, which was incredible." | She says: "We got a shout-out from Ant and Dec and went up on a scissor lift above the Newcastle United fans, which was incredible." |
| Prof Breuer says she is thrilled with how the treatment is changing lives. | Prof Breuer says she is thrilled with how the treatment is changing lives. |
| "It is amazing to see the impact it is having for patients like Ellie." | "It is amazing to see the impact it is having for patients like Ellie." |