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

  1. Elbert S. Huang, MD, MPH5
  1. 1Department of Pediatrics, Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, University of Chicago, Chicago, Illinois;
  2. 2Department of Medicine, Section of Adult and Pediatric Endocrinology, Diabetes and Metabolism, University of Chicago, Chicago, Illinois;
  3. 3Humana, Chicago, Illinois;
  4. 4Center for the Evaluation of Value and Risks in Health, Institute for Clinical Research and Health Policy, Tufts Medical Center, Boston, Massachusetts; and;
  5. 5Department of Medicine, Section of General Internal Medicine, University of Chicago, Chicago, Illinois
  1. Corresponding author: Rochelle N Naylor, E-mail: rnaylor{at}


Objective To evaluate the cost-effectiveness of a genetic testing policy for HNF1A, HNF4A and 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).

Results The testing policy yielded an average gain of 0.012 QALYs and resulted in an ICER of $205,000. Sensitivity analysis showed that if the MODY prevalence was 6%, the ICER would be ∼$50,000. If MODY prevalence was >30%, the testing policy was cost-saving. Reducing genetic testing costs to $700 also resulted in an ICER of ∼$50,000.

Conclusions Our simulated model suggests a policy of testing for MODY in selected populations is cost-effective for the United States based on contemporary ICER thresholds. Higher prevalence of MODY in the tested population or decreased testing costs would enhance cost-effectiveness. Our results make a compelling argument for routine coverage of genetic testing in patients with high clinical suspicion of MODY.

  • Received February 19, 2013.
  • Accepted September 3, 2013.

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