TABLE 6.
Statements
| Statements | Consensus rate |
|---|---|
| 1. The diagnostic process and care of a patient with suspected or confirmed monogenic IBD is best coordinated by a multidisciplinary team of specialists, including gastroenterologists, geneticists, immunologists, and other subspecialists contingent on the individual gene defect, comorbidities and extraintestinal manifestations | 32/32 (100%) |
| 2. Next-generation DNA sequencing technologies are recommended to diagnose known monogenic causes of IBD in routine clinical practice | 32/32 (100%) |
| 3. Genetic screening for monogenic IBD is recommended in all patients with infantile-onset IBD (<2 years) and should be considered in patients with very early-onset IBD (<6 years), in particular, in those patients with relevant comorbidity, extraintestinal manifestations, and/or family history | 31/32 (97%) |
| 4. Although a rare or very rare diagnosis, a monogenic form of IBD should be considered in patients with any paediatric or adult age IBD-onset if they present with relevant comorbidity, extraintestinal manifestations, and/or family history | 27/32 (84%) |
| 5. Routine genetic screening for all IBD patients is not recommended since a monogenic cause of IBD in patients with IBD onset over 6 year of age, especially those with adolescent or adult age onset of IBD is exceptional in the absence of relevant comorbidity | 32/32 (100%) |
| 6. Genetic investigations to establish monogenic IBD are recommended in advance of hematopoietic stem cell transplantation unless the bowel inflammation can be clearly explained (eg, drug-induced colitis) | 32/32 (100%) |
| 7. Panel sequencing, exome, and genome sequencing technologies have complementary diagnostic strength; the first-line technology should be guided by availability and degree of diagnostic suspicion | 30/32 (94%) |
| 8. Functional assessment of novel gene defects and variants of unknown significance is necessary to establish causality | 32/32 (100%) |
| 9. Patients and their families with suspected or confirmed monogenic IBD should be offered the opportunity to participate in research studies. A therapeutically relevant genetic result established in a research setting should be confirmed in a clinical genetics setting | 30/32 (94%) |
IBD = inflammatory bowel disease.
*
Comments: relevant comorbidities and extraintestinal manifestations and family history are summarised in Box 2.