Endocrinologist-led genomic testing for monogenic diabetes in adult diabetes clinics: a feasibility and outcome study

Monogenic diabetes (MGD), such as Maturity-Onset Diabetes of the Young (MODY), is under-recognised and under-diagnosed. Accurate diagnosis of MGD requires genetic testing and has important treatment implications. Integrating MGD testing within diabetes clinics can increase testing uptake and MGD diagnosis. We aimed to explore the feasibility and psychosocial outcomes of endocrinologist-led MGD testing.

Seventy-two adult participants were prospectively identified by endocrinologists from diabetes clinics guided by a set of clinical criteria developed for patient selection. All participants underwent MGD multigene panel testing. Clinical, demographic, and psychosocial data were collected.

A diagnosis of MGD was established in 21.4 % of participants. Multivariable analysis identified younger age at diagnosis (p = 0.04), but not lower body mass index (p = 0.18) or positive family history (p = 0.35), as independent predictors of MGD. Patient satisfaction and empowerment were high. Sixty-percent of endocrinologists reported modifying patient management. Lack of clinical guidelines, access and cost of testing were identified barriers to point-of-care MGD testing.

Integrating MGD testing into routine diabetes care is feasible and can improve treatment outcomes and patient experience. Endocrinologists reported requiring support to implement MGD testing. Our patient selection criteria can be modified to improve inclusiveness and increase sensitivity in predicting MGD diagnosis.