It is critical to identify people with monogenic IBD because treatment may differ from that of classical IBD. The study proposes suggestions for the use of genomics in assessing possible monogenic causes of IBD across age groups in this position statement. The consensus was reached by paediatric IBD professionals from the European Society of Paediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) Paediatric IBD Porto group and specialists from various monogenic IBD research consortia. Researchers identified important issues and conducted a comprehensive literature analysis to include indications, technology, gene panel design, the cost-effectiveness of genetic screening, and clinical care setting needs. They created proposals that were voted on by all of the writers and Porto group members. In regular clinical practise, they propose next-generation DNA-sequencing methods to detect monogenic aetiology of IBD in a multidisciplinary patient care environment. Genetic testing should be explored based on the age at which IBD manifests itself, as well as other factors such as family history, related comorbidities, and extraintestinal symptoms. They created a diagnostic algorithm based on a gene panel of 75 monogenic IBD genes.
To study people at risk for monogenic types of IBD, genomic technologies should be regarded as an important element of patient management.
