Purpose: Neonatal diabetes mellitus is a rare form of diabetes diagnosed in infancy. Nearly half of patients with permanent neonatal diabetes have mutations in the genes for the ATP-sensitive potassium channel (KCNJ11 and ABCC8) that allow switching from insulin to sulfonylurea therapy. While treatment conversion has dramatic benefits, the cost-effectiveness of routine genetic screening is unknown.
Method: We conducted a societal cost-utility analysis, comparing a policy of routine genetic screening to no screening, among children (6 years of age) with permanent neonatal diabetes. We utilized a simulation model of type 1 diabetes complications, with the outcome of interest being the incremental cost-effectiveness ratio (ICER, $/quality adjusted life year (QALY) gained) over 30 years of follow-up.
Result: In the base case, the screening policy dominated the no screen policy. The screening policy was projected to bring about quality of life benefits that enlarged over time (0.32 QALYs at 10 years, 0.70 at 30 years) and produced savings in total costs that were present as early as 10 years ($12,528 at 10 years, $30,437 at 30 years). Sensitivity analyses indicated that the screening policy would remain cost-saving as long as the prevalence of the genetic defects remained above 3% and would retain an ICER<$200,000/QALY at prevalences between 0.7% and 3%.
Conclusion: Genetic screening in neonatal diabetes improves quality of life and lowers costs. This paradigmatic case study highlights the potential economic impact of applying the concepts of personalized genetic medicine to an untold number of other disorders in the future.
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