A tool developed in Cambridge has shown how artificial intelligence (AI) could dramatically increase the speed of diagnosis for people with coeliac disease. By automating the analysis of biopsy images, this could allow samples to be processed faster, reduce waiting lists and enable specialist pathologists to aid the diagnosis and treatment of more people.
Around 1 in 100 people have coeliac disease and experience symptoms that include stomach cramps, diarrhoea, skin rashes, weight loss, fatigue and anaemia as a result of eating gluten.
Diagnosis of coeliac disease is done by specially trained pathologists who analyse biopsy samples taken from the intestine. This can be a time-consuming process, and it is not always possible to achieve a conclusive result.
Anything that makes the system quicker must be a good thing, because once you've been diagnosed and you know you can't have gluten, then you know what to do.
Liz Cox, age 80, living with coeliac disease
A study published today (27 April) in the New England Journal of Medicine AI, shows how AI could accelerate this process and take pressure off healthcare resources while providing comparable levels of accuracy. It could also offer solutions in developing nations that have little or no access to specialist pathologist.
While AI has already been widely investigated for its ability to detect cancer cells in biopsies, this is the first time that the same has been attempted for coeliac disease.
Coeliac disease affects as many as one in 100 people and can cause serious illness, but getting a diagnosis is not straightforward. It can take many years to receive an accurate diagnosis, and at a time of intense pressures on healthcare systems, these delays are likely to continue. AI has the potential to speed up this process, allowing patients to receive a diagnosis faster, while at the same time taking pressure off NHS waiting lists.
Professor Liz Soilleux, study lead and Honorary Consultant Pathologist
In the study, a type of AI known as a machine learning algorithm was shown 4,000 sets of biopsy images collected from five NHS hospitals to help it distinguish between healthy samples and those with coeliac disease.
When the AI was put to the test with another 650 biopsies, it made a correct diagnosis in more than 97 out of 100 cases when compared to diagnoses made by human pathologists. This is a landmark achievement since previous work by the same team has shown that human pathologists frequently disagree over diagnoses.
This is the first time AI has been shown to diagnose as accurately as an experienced pathologist whether an individual has coeliac or not. Because we trained it on data sets generated under a number of different conditions, we know that it should be able to work in a wide range of settings, where biopsies are processed and imaged differently.
Our next step is to test the algorithm in a much larger clinical sample, putting us in a position to share this device with the regulator, bringing us nearer to this tool being used in the NHS.
Dr Florian Jaeckle from the Department of Pathology and first author on the paper
The study is led by Professor Liz Soilleux, Honorary Consultant Pathologist at Cambridge University Hospitals NHS Foundation Trust (CUH) and Professor of Diagnostics & Biomarkers at the University of Cambridge.
Find out how you can take part in research at CUH with Love Research
The researchers have been working with patient groups, including through Coeliac UK (opens in a new tab), to understand the patient response to AI-aided diagnosis.
During the diagnostic process, it’s vital that patients keep gluten in their diet to ensure that the diagnosis is accurate. But this can cause uncomfortable symptoms. That's why it's really important that they are able to receive an accurate diagnosis as quickly as possible.
At Coeliac UK, we’re proud to have funded the early stages of this work. We hope that one day this technology will be used to help patients receive a quick and accurate diagnosis.
Keira Shepherd, Research Officer at Coeliac UK
A key concern they have identified from patients and clinicians that they are seeking to address is ‘explainability’. AI is able to come to conclusions based on patterns it sees in the data it is shown, but at the moment it’s not always easy for a human to understand what those patterns are, or to see whether they are actually relevant to the disease being diagnosed.
Creating AI diagnoses that are explainable is key for the researchers and is likely to be a critical step in the AI being approved, and trusted, for use across the NHS.
The research was funded by Coeliac UK, Innovate UK, the Cambridge Centre for Data-Driven Discovery, the Accelerate Programme for Scientific Discovery (made possible by a donation from Schmidt Sciences) and the National Institute for Health and Care Research (NIHR). Lyzeum Ltd is a spinout company from the University of Cambridge that has been setup to commercialise this AI tool.
Liz’s story
Liz Cox, age 80 from Linton, was diagnosed with coeliac disease in her 50s. After living with stomach pains and anaemia for almost 30 years, a comment from a friend finally made Liz seek medical advice that led to her diagnosis.
Liz started having symptoms in her 30s following the birth of her three children. She recalls:
My doctor carried out various tests, but coeliac disease wasn't very well known then, so I wasn't tested for that. I was quite tired, but I just carried on because you have to when you've got three children and a husband, don't you?
Liz maintained an active life, but when she was in her late 50s, a friend commented “are you still losing weight?” It was this that pushed her to get a blood test that indicated advanced coeliac disease, which was confirmed with a biopsy at Addenbrooke’s Hospital.
Since her diagnosis, Liz has been on a strict, gluten-free diet, which had an effect almost immediately. Liz hopes the use of AI to diagnose coeliac disease will help more people with the condition. Her referral and diagnosis happened relatively quickly. Not everyone is as fortunate.
You hear stories from other people, and they've waited a long time. They go back and forward to the doctor's often, with various odd symptoms, and perhaps the doctors don't always test them for that.
For the last 20 years, Liz has been the Secretary of a Coeliac UK support group in Bury St Edmunds. The group helped her meet others like herself, share tips and find good places to eat that did gluten-free options.
Liz met Professor Soilleux through the group, which is how she found out about this research.
“Elizabeth came to our meeting to talk about her research. It was quite fun because she showed us pictures of biopsies and said could we guess which were coeliac and which weren’t? It wasn't easy.”