A groundbreaking metagenomics test has successfully identified a bacterial infection in a patient’s eye, preserving her eyesight after a five-year battle with a mysterious eye inflammation.
Developed by researchers at UCL and Great Ormond Street Hospital for Children (GOSH), this pioneering test represents a significant advancement in medical diagnostics, offering hope to patients with rare and difficult-to-diagnose infections.
The test can identify bacteria, viruses, and other pathogens directly from patient samples without needing to target specific infections, making it invaluable for diagnosing mysterious conditions.
Key Takeaways
- A new metagenomics test has been developed to identify rare infections.
- The test can diagnose bacterial, viral, and other pathogens directly from patient samples.
- This breakthrough has preserved a patient’s eyesight after a five-year battle with a mysterious eye inflammation.
- The test represents a significant advancement in medical diagnostics.
- It offers hope to patients with rare and difficult-to-diagnose infections.
Five-Year Battle with Mysterious Eye Inflammation
As a medical student in early 2019, Ellie began to experience significant issues with her right eye, initiating a long and arduous journey. The initial symptoms were perplexing, and despite being in the medical field, Ellie found herself entangled in a complex web of diagnoses and treatments.
Initial Symptoms and Misdiagnosis
Ellie first noticed problems with her right eye in early 2019. After undergoing initial tests, she was diagnosed with uveitis, a condition that causes inflammation of the eye. The diagnosis suggested an autoimmune cause, where the body’s immune system mistakenly attacks the eye.
The treatment plan involved immunosuppressant medications to reduce the inflammation. However, despite continued treatment, Ellie’s symptoms continued to worsen. The persistent eye problems required her to undergo hourly steroid eye drops, monthly infusions, and daily tablets.
Failed Treatments and Deteriorating Vision
The aggressive treatment regimen was aimed at controlling the condition, but Ellie’s eye inflammation persisted. The steroid eye drops and other treatments led to complications, including the development of a cataract in her affected eye, which required surgical removal.
- The condition’s progression was marked by significant deterioration in vision.
- Multiple tests for infections were conducted, all of which came back negative.
- The lack of a clear cause for her condition left doctors puzzled.
Considering Eye Removal as Last Resort
After years of unsuccessful treatments and declining eye health, Ellie reached a breaking point. She considered the drastic measure of having her affected right eye removed, fearing not only the loss of sight in that eye but also the potential spread of the mysterious condition to her healthy left eye.
“The thought of losing sight in one eye was daunting, but the fear of it spreading to the other eye was even more terrifying,” Ellie recalled, highlighting the emotional toll of her ordeal.
How Cutting-Edge Genomic Technology Saved Woman’s Eyesight
Metagenomics, a cutting-edge genomic technique, has proven to be a game-changer in identifying infections. This advanced technology has enabled healthcare professionals to diagnose and treat complex cases that were previously undiagnosable.
Understanding Metagenomics Sequencing
Metagenomics sequencing represents a revolutionary advancement in diagnostic medicine, offering an untargeted approach that can identify all types of pathogens in a single test. Unlike traditional diagnostic methods, metagenomics does not require clinicians to predict which specific pathogen might be causing an infection. Instead, it can identify unexpected, rare, or previously unknown infectious agents.
The GOSH metagenomics service, developed over ten years by Professor Judith Breuer and her team at University College London, became the first UK-accredited service of its kind. This service was specifically established to investigate infections in ‘sterile sites’ where infectious agents are not normally present, such as the brain, central nervous system, liver, and in this case, the fluid behind the eye.
Great Ormond Street Hospital’s Pioneering Service
The Great Ormond Street Hospital (GOSH) metagenomics service processes approximately six samples weekly from patients across the country, serving as a last-resort diagnostic tool when traditional methods have failed to identify suspected infections. Dr Julianne Brown, Principal Clinical Scientist of the GOSH metagenomics service, describes witnessing the evolution from research project to established clinical service as “a privilege,” emphasizing that such advancement was only possible through collaboration between scientists and clinical teams.
- The GOSH metagenomics service is a significant improvement over traditional diagnostic methods like bacterial cultures or targeted PCR tests.
- Metagenomics can identify a wide range of pathogens, including bacteria, viruses, and other types of infections.
- The service has been accredited by the UK Accreditation Service (UKAS), ensuring its reliability and accuracy.
The Testing Process and Breakthrough Discovery
The testing process involves taking a sample from the affected area and using advanced genomic sequencing to compare the genetic material against a database of millions of pathogens. This comprehensive approach provides identification capabilities that are not possible with traditional diagnostic methods.
In the case of the woman with mysterious eye inflammation, the metagenomics sequencing was able to identify the cause of her infection, leading to targeted treatment and ultimately saving her eyesight.
Rare Bacterial Infection Finally Identified and Treated
The diagnosis of a rare bacterial infection was the turning point in Ellie’s journey towards recovery. After exhausting all conventional diagnostic options and contemplating eye removal, Ellie’s doctor at Southmead Hospital in Bristol suggested metagenomics as a last resort test for her persistent eye condition.
The Unexpected Culprit: Leptospirosis
The breakthrough came when the metagenomics test identified a rare bacterial infection – a specific strain of Leptospirosis typically found in South America – that had been causing Ellie’s eye inflammation for five years. It is believed that Ellie contracted this rare bacterial infection while swimming in the Amazon river during a trip to Ecuador and Colombia in 2018, a year before her symptoms began.
Leptospirosis is a bacterial infection caused by bacteria of the genus Leptospira. In Ellie’s case, the infection had taken hold in her eye, causing severe inflammation and threatening her vision.
Targeted Antibiotic Treatment and Recovery
Following the identification of the infection, Ellie was prescribed a targeted three-week course of antibiotics, which quickly began to clear the inflammation that had plagued her for years. Within days of starting the appropriate treatment, Ellie noticed her vision becoming clearer and the inflammation subsiding, marking a dramatic turnaround after years of ineffective therapies.
- The team at Moorfields Eye Hospital worked closely with the metagenomics team to identify the cause of Ellie’s condition.
- The successful treatment allowed Ellie to gradually wean off the steroid eye drops that had been a constant part of her life.
Wedding Day Celebration with Restored Vision
In March 2025, Ellie was able to celebrate her wedding day completely free from eye drops and infection, a milestone that seemed impossible just months earlier when she was considering having her eye removed. Professor Carlos Pavesio, consultant ophthalmologist at Moorfields Eye Hospital, described Ellie’s case as “a breakthrough in the diagnosis of infectious diseases,” noting that many patients like Ellie go undiagnosed despite multiple tests.
Ellie’s recovery was not just a medical success but also a testament to the dedication of her clinical team at Moorfields Eye Hospital NHS Foundation Trust. The team Moorfields worked tirelessly to ensure that Ellie received the best possible care, and their efforts paid off when Ellie’s vision began to come back.
Future of Metagenomics in Medical Diagnostics
Metagenomics, a pioneering technology in the field of genomics, is set to transform the way we diagnose and treat infections, offering new hope for patients worldwide. The establishment of the metagenomics service at Great Ormond Street Hospital (GOSH) has been a significant milestone, made possible by continued research investment and collaboration between Professor Breuer’s research team at UCL Great Ormond Street Institute of Child Health and the clinical teams within GOSH.
The success of metagenomics in cases like Ellie’s has shown that it can be a powerful tool in identifying complex infections. Experts predict that it will eventually become a first-line test rather than a last resort. Professor Judy Breuer envisions the technology evolving to diagnose infections in any sample within the same day, dramatically reducing diagnostic timelines.
While a single metagenomics test currently costs approximately £1,300, significantly more than standard diagnostics, experts anticipate rapid price reductions as the technology develops and becomes more widely available to patients. The GOSH team is already working on a new metagenomics method that promises to be even more sensitive and quicker than the current accredited service.
Nationwide collaborations are exploring innovative applications of metagenomics in critical care settings and for understanding immune responsiveness in central nervous system infections. With funding from the Office of Life Sciences, a respiratory metagenomics test is being deployed at up to 30 sites across the UK, expanding the reach of this revolutionary diagnostic approach.
As metagenomics continues to evolve, it is expected to become “faster, cheaper and easier to do,” making it available to more patients rather than just those who are severely ill and have exhausted all other diagnostic options. The development of the metagenomics service highlights the crucial role of research investment and collaboration between academic institutions and clinical teams in advancing medical diagnostics.
Professor Dame Sue Hill, Chief Scientific Officer for England, describes the application of this cutting-edge genomic technology as “a significant leap forward in infectious disease diagnosis and treatment” and “another example of the exceptional progress the NHS is making in the field of metagenomics.” As we move forward, it is clear that metagenomics will play a vital role in shaping the future of medical diagnostics.
