Media Release
MODY Misdiagnosis: A Call for Greater Testing and Awareness
Glen
min read
Maturity Onset Diabetes of the Young (MODY) is the most common genetic form of diabetes, yet it remains underdiagnosed. Affecting around 2–3% of all diabetes patients, MODY is often clinically indistinguishable from Type 1 or Type 2 diabetes, making accurate diagnosis challenging without molecular genetic testing.
Currently, 14 genes have been implicated, and treatment pathways differ depending on the subtype. For example:
A young woman’s journey to diagnosis highlights systemic gaps:
Finally, through participation in a research trial, genetic testing confirmed a pathogenic HNF1A mutation, diagnosing her with MODY3.
Upon receiving the correct diagnosis, the patient shared:
“The realisation that I could have avoided 28,000 insulin injections and the associated costs, stress, and complications is overwhelming.”
Preliminary trial findings showed a 21% MODY diagnostic yield among eligible participants, underlining:
For Suspected Type 1 Diabetes:
For Suspected Type 2 Diabetes:
Accurate MODY diagnosis means:
Australian endocrinology practice must adapt by broadening testing access and awareness — ensuring MODY no longer remains the tip of the iceberg in diabetes care.
Sources: Internal Medicine Journal, 2022.
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