National guidelines have been developed for clinicians on the use of genomics to diagnose and care for patients with monogenic inflammatory bowel disease (IBD), a group of intestinal disorders caused by variations in a single gene.
The new guidelines, unveiled in an article in the Lancet Gastroenterology and Hepatology, are already having a direct impact on patient care, having been adopted in clinical pathways by the NHS Genomic Medicine Service.
More than 100 monogenic disorders can present with IBD and new genetic disorders and variants are being discovered every year. Understanding that intestinal inflammation can be caused by a single gene is vital information for patients, their families and their doctors, as it can have important implications for treatment options.
The new guidelines will help to translate the genetic discoveries of recent years into clinical practice and pave the way for more personalised or precision medicine for these patients.
The guidelines were produced by a group of clinicians and researchers including paediatric and adult gastroenterologists, immunologists and transplant specialists.
The NIHR Oxford Biomedical Research Centre’s Co-theme Lead for Inflammation Across Tissues, Professor Holm Uhlig of University of Oxford’s Translational Gastroenterology Unit and Department of Paediatrics coordinated the guideline along with Dr Jochen Kammermeier from the Evelina Hospital London and Dr Chris Lamb of the University of Newcastle.
Four patient organisations – CICRA (a charity for children with Crohn’s disease and ulcerative colitis), Crohn’s & Colitis UK, the XLP research trust and the Chronic Granulomatous Disorder Society – contributed actively to developing the guidelines.
Given the significant contribution by paediatric and adult gastroenterologists, the guidelines have been endorsed by the British Society of Gastroenterology and the British Society of Paediatric Gastroenterology, Hepatology and Nutrition.
Prof Uhlig (pictured left) said: “This guideline illustrates the transformational impact that the use of genomics has for diagnostics in inflammatory bowel disease; clinical genomics has proved an increasingly important tool in establishing a monogenic cause in patients who present with IBD at a very young age or with extremely severe disease.
“These guidelines represent a significant step forward in helping clinicians working in this field, for example outlining the diagnostic care pathways for paediatric and adult patients. We aim to give clear guidance and standardised, affordable applications of the genomic technologies required to implement exome or genome sequencing in clinical practice. Our guidelines aim to ensure that testing resources are applied appropriately to maximise the benefit to patients across the country, as well as to minimise healthcare disparities in accessing genomic technologies, and optimise the use of NHS resources.”
He added: “We’re delighted that this document has received input – and support – from relevant national bodies, clinicians across a range of disciplines, and, importantly, groups representing patients – a great example how patient stakeholders are actively involved in developing the future of clinical care pathways.”
As well as the NIHR Oxford BRC, the research towards this guideline has been supported by the Cambridge and Newcastle BRCs, a transformational project of the NHS Genomic Medicine Service and the Helmsley Charitable Trust.