Diagnosis,treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry

PurposeMaturity-onset diabetes of the young (MODY) represents a heterogenous group of monogenic diabetes. Despite its autosomal dominant inheritance, many MODY participants in the University of Chicago Monogenic Diabetes Registry have no family members enrolled. We aimed to gather data on the Registry participants’ experiences in (1) receipt of an accurate diagnosis, (2) decisions regarding disclosure of their MODY genetic test results with biological relatives, and (3) recommendations toward our Registry’s processes and outreach.MethodsWe conducted 20 one-on-one semistructured interviews with adult Registry participants.ResultsAll participants found navigating the health care system challenging because of the providers’ unfamiliarity with MODY and dismissal of its importance post diagnosis. All had shared their results with at least 1 relative, however many found their relatives resistant to engaging with their providers. Participants wanted to receive targeted information on their condition and connect with other participants who have faced similar diagnostic and treatment challenges.ConclusionOur results demonstrate that our probands faced resistance to reclassification of their diabetes from both health care providers and relatives. In an effort to improve cascade testing, the Registry is designing a portal to facilitate participant–research team communication and provide additional supports for participants to involve family members in testing.