The aim of the Monogenic Inflammatory Bowel Disease (IBD) Transformation Project ran from 2022 to 2023. It’s aim was to improve patient care for monogenic inflammatory bowel disease by integrating genomic medicine care pathways into routine NHS care within the Central and South region. This project also sought to provide increased learning opportunities within clinical settings in the region. Monogenic forms of IBD are rare conditions that significantly impact patients’ quality of life, as they often require specialised treatment approaches.
Multidisciplinary Team (MDT) networks were set up for medical professionals to discuss patients where a genetic cause of the disease might help deliver precision medicine. This initiative made specialist advice and support more accessible to trusts across the Central and South (CAS) region, helping to inform the best possible treatments and care for patients. The MDT networks also aimed to identify which patients would benefit most from genomic medicine, which genetic findings could explain the disease, and which variants might require additional research.
Education was a critical component of the project. A one-day seminar was organised where clinical teams from Oxford University Trust, Southampton University Trust and Birmingham Women’s and Children’s Trust met with colleagues from other UK centres to discuss best practices in monogenic IBD genomics, challenges, new technologies, and research findings. External stakeholders such as CICRA and the British Society of Paediatric Gastroenterology, Hepatology and Nutrition were invited to support effective collaboration. Additionally, video content was created for clinical and patient-facing sites to further support education on Monogenic IBD and VEOIBD. These videos are hosted on the Central and South Genomics website, University Hospital Southampton website, and Virtual Learning Environment (VLE).
The Monogenic IBD Transformation Project successfully advanced patient care across Central and South Genomics and nationally. Key deliverables include the adoption of the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) diagnostic algorithm within Oxford University Trust, Southampton University Trust, and Birmingham Women’s and Children’s Hospital. National guidelines were established with support from the British Society of Paediatric Gastroenterology Hepatology and Nutrition and the British Society of Gastroenterology.
A regional network of MDTs was established, integrating Oxford, Southampton, and Birmingham trusts, and expanding to include Great Ormond Street Hospital (GOSH) and other centres. This network facilitated the implementation and auditing of clinical genomics alongside mainstream clinical activities, ensuring that specialist advice and support were accessible across the CAS region. The long-term goal is to further expand this network to enhance national involvement and collaboration.
Patients were invited to contribute to research, leading to significant findings such as the identification of genetic variants associated with colitis susceptibility and the successful implementation of advanced treatment strategies, including dual hematopoietic and small bowel transplants. These contributions have enhanced the understanding of IBD, improved diagnostic accuracy, and informed more effective treatment strategies.
The Monogenic IBD Transformation Project has made important strides in improving patient care and understanding of monogenic IBD within the Central and South region. By incorporating genomic medicine into routine NHS care, establishing a network of multidisciplinary teams, and creating educational resources, the project has enhanced the precision and effectiveness of treatments. The support from Central and South Genomics was crucial in achieving these outcomes, demonstrating the value of regional collaboration in advancing healthcare.
The videos below have been created to tell you more about monogenic IBD, whether you’re a patient or clinician.
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