Better health through genomics: Tackling Inflammatory Bowel Disease
The causes of inflammatory bowel disease (IBD) remain unclear. Our researchers are driving new understanding through genetics.
Key points
IBD affects half a million people in the UK. Numbers are rising, and exact causes remain unclear.
Our research has linked symptoms to genetic changes, advancing knowledge and individuals’ care.
This work is translating back to patient benefit through a new multidisciplinary team (MDT) and clinical service.
Becoming more common
Crohn’s disease and ulcerative colitis are the most common forms of IBD. Symptoms include stomach cramps, bloating, diarrhoea, weight loss and extreme tiredness.
IBD is a growing healthcare challenge. By 2030, it is estimated that 1% of the UK population will be living with the condition.
Disease can rarely be caused by mutations in single genes. Identification of these cases is very important.
What causes IBD?
Our work with IBD patients has led us to the view that despite their common symptoms, underlying causes vary.
For most people, IBD results from a combination of genetics and environmental risk factors.
We saw that unpicking these factors case-by-case would improve diagnoses and individuals’ care. This approach could also benefit patients with other similar conditions.
Combining genetic and clinical data
In 2010, we launched the Genetics of IBD study. 3,000 people have since been recruited from University Hospital Southampton.
We took blood samples, which we used for DNA analysis. This has enabled us to link symptoms to genetic changes.
Key findings include specific DNA changes in over 7% of Crohn’s disease patients. Affecting the NOD2 bacterial-sensing gene, this was the genetic root of their symptoms.
We also identified a 10-fold higher risk of patients with this genetic cause needing intestinal surgery (published here).
Our results have helped patients and their clinical teams to better track and manage symptoms.
Using new approaches to screening genomic data, we have identified rare ‘monogenic IBD’ diagnoses in an estimated 1/400 of the cohort. This provides potential to modify treatments and alter disease course in these severely affected patients.
Improving treatments and care
In 2022-23, we set up a new Paediatric Gastroenterology Genetics MDT and clinical service. It includes specialists from Southampton, Oxford, Birmingham and Great Ormond Street Hospital.
This team meets to discuss patients with potential and confirmed genetic causes of the disease. It is informing the best possible treatments and care.
The new clinical pathway has already facilitated access to NHS genomic testing for over 20 patients.
In Southampton, the clinic is run by paediatric gastroenterologists and clinical academics. They were trained through our Genetics of IBD study.
Using automation and machine learning
Advances in sequencing technology have enabled much of our research.
We are increasingly using automation and machine learning to collect routine patient data. This includes measurements, blood test results, surgery and disease complications.
Using contemporary generative AI, the team has been structuring electronic health record data to accelerate IBD research using a privacy-compliant solution. Collaboration across multiple cohorts is now beginning to support our AI models to move towards better understanding of disease progression and patient benefit.
Reducing paperwork and research nurse time, this has given new insights into IBD. It has seen a patient’s need for surgery become a key measure of effective care for a range of research studies.
Findings are shared with our BRC’s Data, Health and Society theme.
What’s next?
We will continue using machine learning and AI to study these complex data. These computer programmes learn as they work, spotting patterns faster.
Our collaborations with industrial partners will advance the development of targeted treatments.
We are also working to inform national policy. Our goal is to shape and guide the introduction of genomics within IBD and other complex diseases.