Toggle Main Menu Toggle Search

Open Access padlockePrints

Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition

Lookup NU author(s): Dr Chris LambORCiD, Professor Sophie HambletonORCiD, Dr Ally Speight



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2023 Elsevier LtdGenomic medicine enables the identification of patients with rare or ultra-rare monogenic forms of inflammatory bowel disease (IBD) and supports clinical decision making. Patients with monogenic IBD frequently experience extremely early onset of treatment-refractory disease, with complex extraintestinal disease typical of immunodeficiency. Since more than 100 monogenic disorders can present with IBD, new genetic disorders and variants are being discovered every year, and as phenotypic expression of the gene defects is variable, adaptive genomic technologies are required. Monogenic IBD has become a key area to establish the concept of precision medicine. Clear guidance and standardised, affordable applications of genomic technologies are needed to implement exome or genome sequencing in clinical practice. This joint British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition guideline aims to ensure that testing resources are appropriately applied to maximise the benefit to patients on a national scale, minimise health-care disparities in accessing genomic technologies, and optimise resource use. We set out the structural requirements for genomic medicine as part of a multidisciplinary team approach. Initiation of genomic diagnostics should be guided by diagnostic criteria for the individual patient, in particular the age of IBD onset and the patient's history, and potential implications for future therapies. We outline the diagnostic care pathway for paediatric and adult patients. This guideline considers how to handle clinically actionable findings in research studies and the impact of consumer-based genomics for monogenic IBD. This document was developed by multiple stakeholders, including UK paediatric and adult gastroenterology physicians, immunologists, transplant specialists, clinical geneticists, scientists, and research leads of UK genetic programmes, in partnership with patient representatives of several IBD and rare disease charities.

Publication metadata

Author(s): Kammermeier J, Lamb CA, Jones KDJ, Anderson CA, Baple EL, Bolton C, Braggins H, Coulter TI, Gilmour KC, Gregory V, Hambleton S, Hartley D, Hawthorne AB, Hearn S, Laurence A, Parkes M, Russell RK, Speight RA, Travis S, Wilson DC, Uhlig HH

Publication type: Article

Publication status: Published

Journal: The Lancet Gastroenterology and Hepatology

Year: 2023

Volume: 8

Issue: 3

Pages: 271-286

Print publication date: 01/03/2023

Online publication date: 09/01/2023

Acceptance date: 14/09/2022

Date deposited: 27/04/2023

ISSN (print): 2468-1253

ISSN (electronic): 2468-1156

Publisher: Elsevier Ltd


DOI: 10.1016/S2468-1253(22)00337-5

ePrints DOI: 10.57711/zfs3-vk72

PubMed id: 36634696


Altmetrics provided by Altmetric