Table 1

Genomic testing eligibility criteria for patients with IBD

When to consider genomic testingAdditional criteria when considering eligibility
  1. All children with IBD onset under 2 years of age.

  2. Children with IBD onset under 6 years of age, in particular when one or more of the additional criteria (1–6) are present.

  3. In patients >6 years of age only if there is a strong suspicion for a monogenic IBD due to test criteria 1–6.

  1. Infection susceptibility in the presence of abnormal laboratory tests—immunodeficiency.

  2. Inflammatory features—inborn error of immunity (IPEX syndrome or haemophagocytic lymphohistiocytosis).

  3. Congenital multiple intestinal atresias or congenital diarrhoea.

  4. Early-onset malignancy (<25 years of age).

  5. Family history of suspected monogenic IBD (criteria 1–5).

  6. In advance of interventions and/or therapies.

  • If patients meet the criteria in the UK then the R15 panel should be requested through the local Genomic Medicine Service.

  • IBD, inflammatory bowel disease; IPEC, immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.