Endocrinologist-led genomic testing for monogenic diabetes in adult diabetes clinics: a feasibility and outcome study
Authors' conclusion
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.
Study context
- Population
- Adults from diabetes clinics identified by endocrinologists using clinical criteria for possible monogenic diabetes (MGD)
- Participants
- 72 adults
- Outcome
- Feasibility and psychosocial outcomes of endocrinologist-led MGD testing
Methodological detailsendocrinologist-led, multigene panel testing
- Endocrinologist-led
- Multigene panel testing
Main finding
As reported in the abstract
MGD diagnosis
- MGD diagnosis established
- 21.4 %
- Endocrinologists reporting modified patient management
- Sixty-percent
Observational data: associations, not effects.
Further findings
Independent predictors of MGD (multivariable analysis)
- Younger age at diagnosis
- P = 0.04
- Lower BMI (not a predictor)
- P = 0.18
- Positive family history (not a predictor)
- P = 0.35
Barriers to point-of-care MGD testing
- Lack of clinical guidelines, access and cost of testing were barriers
Original publication
Endocrinologist-led genomic testing for monogenic diabetes in adult diabetes clinics: a feasibility and outcome study. Diabetes Res Clin Pract. Published 6 September 2025. doi:10.
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