Do patients with inflammatory bowel disease want genetic testing?

Area of Science:

• Genetics
• Gastroenterology
• Medical Psychology

Background:

• Inflammatory Bowel Disease (IBD) is a complex genetic disorder with non-Mendelian inheritance patterns.
• While genotype-phenotype associations exist, patient interest in genetic testing and acceptance of uncertainty remain largely unknown.
• Understanding patient attitudes is vital for implementing genetic testing in clinical practice.

Purpose of the Study:

• To assess the interest of patients with IBD in genetic testing for diagnostic, prognostic, and therapeutic purposes.
• To evaluate patients' willingness to accept the inherent uncertainty in complex genetic testing.
• To determine patient interest in genetic testing for at-risk family members.

Main Methods:

• A survey of 114 IBD outpatients was conducted using a 57-item questionnaire.
• A layperson explanation of IBD genetics limitations was provided.
• A 5-point Likert scale assessed willingness for genetic testing; the standard reference gamble paradigm evaluated family testing acceptance.

Main Results:

• A significant majority expressed willingness for genetic testing: 76.8% for diagnosis, 81.3% for prognosis, and 88.4% for treatment decisions.
• Patients with a first-degree relative with IBD showed higher willingness to undergo testing (P=0.026).
• 88.6% were interested in family testing with absolute certainty, accepting an average lowest certainty level of 42.2%.

Conclusions:

• Most IBD patients are interested in genetic testing, even with complex genetics and some uncertainty.
• A notable minority expressed no desire for testing, warranting further investigation into their reasons.
• Findings should inform the development and implementation of widespread clinical genetic testing for IBD.