ReviewGenomic diagnosis and care co-ordination for monogenicinflammatory bowel disease in children and adults:consensus guideline on behalf of the British Society ofGastroenterology and British Society of PaediatricGastroenterology,Hepatology and NutritionJochen Kammermeier,Christopher ALamb",Kelsey DJJones,Carl AAnderson,Emma LBaple,Chrissy Bolton,Helen Braggins,Tanyal Coulter,Kimberly CGilmour,Vicki Gregory,Sophie Hambleton David Hartley,A Barney Hawthome Sarah Hearn,Arian Laurence,Miles Parkes,RichardK Russell RAlexander Speight,Simon Travis,David CWilson,Holm HUhligGenomic medicine enables the identification of patients with rare or ultra-rare monogenic forms of inflammatory LanetGastmteral Hepatolbowel disease(IBD)and supports clinical decision making.Patients with monogenic IBD frequently experience2023extremely early onset of treatment-refractory disease,with complex extraintestinal disease typical ofPublished Onlineimmunodeficiency.Since more than 100 monogenic disorders can present with IBD,new genetic disorders andJanuary9,2023https://doiorg/10.1016/variants are being discovered every year,and as phenotypic expression of the gene defects is variable,adaptive52468-125322]00337-5genomic technologies are required.Monogenic IBD has become a key area to establish the concept of precision"Joint first authorsmedicine.Clear guidance and standardised,affordable applications of genomic technologies are needed toDepartment of Paediatricimplement exome or genome sequencing in clinical practice.This joint British Society of Gastroenterology andGastroenterology,EvelinaBritish Society of Paediatric Gastroenterology.Hepatology and Nutrition guideline aims to ensure that testingLondon Children's Hospitalresources are appropriately applied to maximise the benefit to patients on a national scale,minimise health-careLondon,UKdisparities in accessing genomic technologies,and optimise resource use.We set out the structural requirements(JKammemeier PhD}Translational Clinicalfor genomic medicine as part of a multidisciplinary team approach.Initiation of genomic diagnostics should beResearchInstitute.Newcstleguided by diagnostic criteria for the individual patient,in particular the age of IBD onset and the patient's history.University,Newcastle uponand potential implications for future therapies.We outline the diagnostic care pathway for paediatric and adultTyne,UK(CA Lamb PhD,patients.This guideline considers how to handle clinically actionable findings in research studies and the impactProf S Hambleton DPhil,RA Speight MD):Departmentof consumer-based genomics for monogenic IBD.This document was developed by multiple stakeholders,of Gastroente rology,Royalincluding UK paediatric and adult gastroenterology physicians,immunologists,transplant specialists,dinicalVictoria Infirmary,Ne wcastlegeneticists,scientists,and research leads of UK genetic programmes,in partnership with patient representativesupon Tyne,UK (CA Lamb,of several IBD and rare disease charitiesR
