Cost-Effectiveness of MODY Genetic Testing: Translating Genomic Advances Into Practical Health Applications

Cost-Effectiveness of MODY Genetic Testing: Translating Genomic Advances Into Practical Health Applications

OBJECTIVE To evaluate the cost-effectiveness of a genetic testing policy for HNF1A-, HNF4A-, and GCK-MODY in a hypothetical cohort of type 2 diabetic 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 o...

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Bibliographic Details
Published in:Diabetes care Vol. 37; no. 1; pp. 202 - 209
Main Authors: NAYLOR, Rochelle N, JOHN, Priya M, WINN, Aaron N, CARMODY, David, GREELEY, Siriatma W, PHILIPSON, Louis H, BELL, Graeme I, HUANG, Elbert S
Format: Journal Article
Language:English
Published: Alexandria, VA American Diabetes Association 01-01-2014
Subjects:
Adult
Biological and medical sciences
Cholesterol
Cohort Studies
Cost-Benefit Analysis
Diabetes
Diabetes Mellitus, Type 2 - diagnosis
Diabetes Mellitus, Type 2 - drug therapy
Diabetes Mellitus, Type 2 - genetics
Diabetes. Impaired glucose tolerance
Economic aspects
Endocrine pancreas. Apud cells (diseases)
Endocrinopathies
Epidemiology/Health Services Research
Female
Genetic screening
Genetic testing
Genetic Testing - economics
Genomics
Genomics - trends
Hepatocyte Nuclear Factor 1-alpha - genetics
Hepatocyte Nuclear Factor 4 - genetics
Humans
Male
Medical diagnosis
Medical sciences
Metabolic diseases
Models, Theoretical
Outcome Assessment (Health Care)
Patients
Precision Medicine
Prevention and actions
Protein-Serine-Threonine Kinases - genetics
Public health. Hygiene
Public health. Hygiene-occupational medicine
Quality-Adjusted Life Years
Simulation
Sulfonylurea Compounds - therapeutic use
Translational Medical Research - trends
Type 2 diabetes
United States
United States
Human
Nutrition
Genomics
Metabolic diseases
Medical screening
Predictive medicine
Genetic counseling
Health economy
Translating
Genetics
Endocrinology
Public health
Cost efficiency analysis
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Summary:OBJECTIVE To evaluate the cost-effectiveness of a genetic testing policy for HNF1A-, HNF4A-, and GCK-MODY in a hypothetical cohort of type 2 diabetic 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 UK Prospective Diabetes Study 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 with 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) (USD/QALY). RESULTS The testing policy yielded an average gain of 0.012 QALYs and resulted in an ICER of 205,000 USD. Sensitivity analysis showed that if the MODY prevalence was 6%, the ICER would be ~50,000 USD. If MODY prevalence was >30%, the testing policy was cost saving. Reducing genetic testing costs to 700 USD also resulted in an ICER of ~50,000 USD. CONCLUSIONS Our simulated model suggests that a policy of testing for MODY in selected populations is cost-effective for the U.S. 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.
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ISSN:0149-5992
1935-5548
DOI:10.2337/dc13-0410