Cost-effectiveness of genetic screening for maturity onset diebetes of the young (MODY)

Abstract

OBJECTIVES: Maturity onset diabetes of the young (MODY) is a genetic form of diabetes for which 13 genes are known to be responsible. Many subtypes of MODY can be treated with oral medication instead of insulin injections, which results in improved metabolic control, quality of life and cost savings. Massively parallel sequencing (MPS) enables the simultaneous sequencing of all 13 genes for a fraction of the cost of traditional Sanger sequencing. We conducted a cost utility analysis of genetic screening (targeted MPS) for MODY in a paediatric population presumed to have type 1 diabetes (T1D), where the underlying prevalence of MODY has been calculated as 2.6%. METHODS: A Markov decision model was developed to estimate the incremental costs and quality-adjusted life years (QALYs) of genetic screening for MODY compared with standard care over 50 years' follow up. The probabilities and quality of life weightings (utility) of long term diabetic complications were estimated from published data and population statistics. Costs were estimated from the perspective of the Australian health care system. RESULTS: Genetic screening for MODY at diabetes diagnosis was more effective and less costly than standard care, with 1.39 QALYs gained and AU$1.4 million (US$1.05 million) saved per 1,000 patients. The costs of the screening program were fully offset within four years. A sensitivity analysis revealed that genetic screening remained dominant until the MODY prevalence fell below 0.7%. CONCLUSIONS: Screening for MODY in the paediatric diabetes population would reduce health system costs and improve patient quality of life. Our results were robust to assumptions around the underlying MODY prevalence and make a compelling argument for routine genetic screening in all children with presumed T1D.L6175986162017-08-04 <br />