Background It is important to identify patients with monogenic IBD since management including response to biologics and surgery plus the role of stem cell transplantation may differ from classical IBD. We report on the 2020 Position paper of the PORTO group of ESPGHAN for the use of genomics to diagnose monogenic causes of IBD.

Methods Paediatric IBD specialists from the Paediatric IBD Porto group of the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) and specialists from several monogenic IBD research consortia reached a consensus of standard of care. Our systematic literature review covered indications, technologies (targeted panel, exome and genome sequencing), gene panel setup, cost-effectiveness of genetic screening, and requirements for the clinical care setting.

Results Next-generation DNA sequencing technologies are recommended to diagnose monogenic causes of IBD in routine clinical practice, embedded in the setting of multidisciplinary patient care. Routine genetic screening is not recommended for all IBD patients but instead genetic testing should be considered in the context of age of IBD onset (infantile IBD, very early onset IBD, paediatric or young adult IBD) and on further key criteria such as family history, relevant comorbidities and extraintestinal manifestations. Genetic testing is also recommended in advance of hematopoietic stem cell transplantation. We present a diagnostic algorithm that includes a gene panel of seventy-five monogenic IBD genes. We discuss how these recommendations can be implemented from 2021 onwards into the UK NHS health care system. Lastly, we present a UK-focused health care utilisation pathway highlighting the available UK clinical resources, clinical targeted panel sequencing and exome sequencing strategies in the UK, and regional immune validation pathways.

Summary Genomic technologies should be considered an integral part of patient care to investigate patients at risk for monogenic forms of IBD in the UK.