Genetic testing for inflammatory bowel disease: focus group analysis of patients and family members

Inflammatory bowel disease (IBD) is a chronic gastrointestinal illness with complex genetic underpinnings. Genetic testing for IBD, in particular, for high-risk alleles, is not currently used in clinical practice. Further, preferences and concerns of patients and their family members regarding a genetic test for this condition are not well studied.

Thirty IBD patients and eighteen unaffected first-degree family members or spouses listened to a general educational session about IBD and then participated in one of eight focus groups in order to identify themes of concern and interest regarding a genetic test for IBD. Participants also completed demographic, attitude, and knowledge surveys prior to the focus group sessions. Qualitative analysis of transcripts was performed, and simple comparative statistics of survey data were calculated.

There were few differences between the responses of patients and unaffected family members. Participants were interested in undergoing genetic testing for IBD despite the fact that information at this time cannot be clinically applied in the diagnosis, prognosis, or treatment of the disease. Advantages of genetic testing commonly identified included benefit to themselves and family members through the possibility of earlier diagnosis and targeted therapies. Disadvantages commonly cited were discrimination by insurance companies and employers and concerns about protection of information. In general, participants were interested in receiving both pre- and posttest information from an informed gastroenterologist, which included a clear basis for testing and the implications of the results for themselves and for family members.

The results of the first focus group assessment about genetic testing for IBD reveal themes that are similar in interests and concerns to other genetic diseases. These findings will aid in the construction of patient-centered models of genetic testing that emphasize patient education and interpretation of results.