21 November 2022
New evidence published in the Internal Medicine Journal (IMJ), a journal of the Royal Australasian College of Physicians, suggests increased testing for Maturity Onset Diabetes of the Young (MODY) could spare unnecessary insulin treatment in thousands of patients who may have undiagnosed MODY.
People with MODY are often misdiagnosed as Type 1 or Type 2 diabetes leading to unnecessary and potentially harmful treatment for patients.
Diabetes experts say greater awareness and more uptake for MODY testing is necessary to prevent misdiagnosis and low-value care.
MODY is the most common genetic form of diabetes, accounting for at least 2-3% of all diabetes cases, or likely higher due to its under-diagnosis.
More importantly, most patients with MODY do not require insulin injections, can be managed with simple oral medication, and sometimes do not even require any treatment.
Associate Professor Kathy Wu, the chief principal investigator of the study that aims to “mainstream” MODY genetic testing in the hands of the endocrinologists at point-of-care, believes it is important for clinicians to think MODY when diagnosing patients with diabetes so that appropriate treatment can be instituted from the outset.
“The preliminary findings from our study showed that there are more people with MODY than we previously thought, and this has profound implications for not only individual patients but also our health system as a whole.
“This is potentially lifechanging for thousands of Australians – not only is there a positive lifestyle impact to come off insulin, but it mitigates unnecessary treatment and the various risks associated with such treatment.
“The caveat to diagnosing MODY is that it requires molecular genetic testing which can be costly and not currently covered by Medicare.
“However, if more people are diagnosed with MODY and spared from insulin treatment, it can potentially be cost saving for the entire health system, thus making a case for MBS application for public funding for MODY testing.
“This also has resource implications, in that insulin can be allocated to those who truly need it.
The preliminary results of the study, which included participants who fulfilled specific eligibility criteria, showed a 21% diagnostic yield for MODY.
“This means that we are likely seeing the tip of the iceberg, and that there are a significant number of people with undiagnosed MODY living in the community,” said Associate Professor Wu.
One of the participants in the trial, who was originally diagnosed with type 1 diabetes, shared the emotional response of discovering her MODY diagnosis.
“The realisation that I could have had an oral medication, once daily for the past 11 years, instead of spending the time, mental and emotional toll, with physical and environmental impact of [approx.] 28,000 insulin injections that could have been completely avoided and the [approx.] 30,000 blood glucose level checks that could have been significantly minimised was (as still is) overwhelming.”
There is currently no consensus on the guidelines for MODY testing within the medical community, but the inclusion criteria developed for the study may form a basis for clinical guideline development for MODY genetic testing.
The result of this study has the potential to improve health outcomes for those living and/or being newly diagnosed with diabetes.