Maturity onset diabetes of the young (MODY), mostly caused by mutations in the specific genes (GCK, HNF1A or HNF4A), differs from known type 1 and type 2 diabetes in terms of disease progression and the treatment patients receive. Rather than the more invasive and expensive treatment of parenteral insulin, patients with HNF1A (MODY3) and HNF4A (MODY1) mutations can be successfully treated with sulfonylureas. Whereas patients with GCK (MODY2) mutation rarely require pharmacological treatment. It is challenging to diagnose MODY, most of the patients with the condition are mislabelled and treated as having type 1 (T1) or type 2 (T2) diabetes ─ including parenteral insulin administration. Our goal is to assess the cost effectiveness of genetic testing high-risk insulin treated diabetic population – that is identified by the MODY calculator questionnaire – compared to doing no genetic testing.
The cost-effectiveness model takes the cohort through a screening process, where diabetic patients younger than 35 years treated with insulin first fill out the MODY calculator then patients categorized to high risk are tested with massively parallel sequencing for MODY mutations. For positive tested patients the therapy is switched with respect to their mutation. Patients without screening and testing or with negative results remain on the original therapy. Therapy switch translates to increased quality of life, decreased therapy costs and better outcomes in hypoglycaemia complications due to stopping insulin therapy and better outcomes in other diabetes complications due to better HbA1c control. Patients’ progression is modelled by using an individual level Markov simulation model (Syreon Diabetes Model, Nagy et al. 2016), which considers 10 complications of diabetes (via sub-models), physiological characteristics and treatment algorithms.