The Cost-Effectiveness of Maturity-Onset Diabetes of the Young Genetic Testing – Translating Genomic Advances into Practical Health Applications

Objective To evaluate the cost-effectiveness of a genetic testing policy for HNF1A, HNF4Aand GCK-MODY in a hypothetical cohort of type 2 diabetes patients 25-40 years old with a MODY prevalence of 2%.

Research Design and Methods We used a simulation model of type 2 diabetes complications based on UKPDS data, modified to account for the natural history of disease by genetic subtype, to compare a policy of genetic testing at diabetes diagnosis versus a policy of no testing. Under the screening policy, successful sulfonylurea treatment of HNF1A-MODY and HNF4A-MODY was modeled to produce a glycosylated hemoglobin reduction of -1.5%, compared to usual care. GCK-MODY received no therapy. Main outcome measures were costs and quality-adjusted life years (QALYs), based on lifetime risk of complications and treatments, expressed as the incremental cost-effectiveness ratio (ICER, $/QALY). Read More