Gastroenterology experts have had a position paper published that calls for genomic technologies to be considered an integral part of patient care to investigate patients at risk for monogenic forms of inflammatory bowel disease (IBD).
The authors include a number of NIHR Oxford BRC-supported researchers.
The paper, published in the Journal of Paediatric Gastroenterology and Nutrition, pointed out the importance of identifying patients with monogenic IBD since management of their condition may differ from classical IBD.
The paper was endorsed by specialists from the Paediatric IBD Porto group of the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) and from several monogenic IBD research consortia.
“We recommend next-generation DNA sequencing technologies to diagnose monogenic causes of IBD in routine clinical practice embedded in a setting of multidisciplinary patient care,” the paper concludes.
It said that routine genetic screening is not recommended for all IBD patients: “Genetic testing should be considered depending on age of IBD onset and criteria such as family history, relevant comorbidities and extra-intestinal manifestations. Genetic testing is also recommended in advance of hematopoietic stem cell transplantation.”
The authors have also developed a diagnostic algorithm that includes a gene panel of 75 monogenic IBD genes.