RESUMEN
OBJECTIVES: Significant progress has been observed in our understanding of the role of genetics in inflammatory bowel disease susceptibility and phenotype. The clinical role of genetic testing for inflammatory bowel disease is not well developed, but may become important as more susceptibility genes are found. The aim of this study was to evaluate the attitudes of patients with inflammatory bowel disease toward genetic testing. METHODS: Two hundred and fifty patients (108 ulcerative colitis, 142 Crohn's disease) attending the outpatient clinic completed a questionnaire regarding clinical and family history data, as well as their attitudes toward genetic testing for inflammatory bowel disease. RESULTS: Ninety percent (225/250) of all patients expressed an interest in undergoing genetic testing themselves, with 87.6% (219/250) also expressing a desire for their children to be tested. Although the proportion of ulcerative colitis and Crohn's disease patients interested in testing was similar, levels of interest decreased as the predictive value of a putative genetic test decreased. A comparable proportion of those with [80/86 (93.0%)] and those without [145/164 (88.4%)] a family history of inflammatory bowel disease expressed an interest in genetic testing. More patients who had received immunomodulating or biologic therapies [123/128 (96.1%)], however, wished to undergo testing than those who had not received these medications [78/93 (83.9%; P<0.01)]. CONCLUSION: Patients with inflammatory bowel disease have a high level of interest in genetic testing, both for themselves and for their children, and this will have an impact upon the provision of genetic services as progress is made toward defining a clinical role for inflammatory bowel disease susceptibility genes.