Experiences of Enrolling in the U.S. Monogenic Diabetes Registry

The U.S. Monogenic Diabetes Registry (Registry) facilitates accurate genetic diagnosis, gene-directed management and longitudinal follow-up of monogenic diabetes. Through the Registry, we currently follow 569 individuals with MODY, 74% of who have had genetic testing through Registry-related studies. We aimed to understand participants’ experiences of accessing, enrolling and participating in the Registry.

Through one-on-one semi-structured interviews participants were queried on how they were diagnosed with MODY, understanding of their diagnosis, and their experiences as Registry participants. An iterative process of coding, analyzing, and summarizing transcripts was completed using thematic analysis.

Data collection and analysis are ongoing. To date, we have conducted 8 interviews. Prolonged misclassification of diabetes type and delayed consideration of and referral for monogenic diabetes evaluation were commonly reported. Participants reported negative effects from diabetes misclassification, including emotional, financial and treatment burden. Participants were generally positive regarding interactions with the Registry. However, long turnaround times for research-based genetic testing results negatively impacted some participants. Levels of provider knowledge, healthcare access, socioeconomic status (SES), culture, language and self-efficacy were identified as important facilitators or barriers to Registry referral and enrollment for accurate MODY diagnosis.

Our study demonstrates multiple negative impacts of delay in MODY diagnosis. It also shows the utility of the Registry in aiding in MODY diagnosis. Efforts should focus on increased visibility of the Registry to diabetes providers and directly to patients. Specific measures to increase knowledge of and facilitate enrollment in the U.S. Monogenic Diabetes Registry among lower SES patients, non-native English speakers and racial and ethnic minorities can help address apparent ascertainment bias within the Registry.