OBJECTIVE: To assess the cost-effectiveness of neonatal screening on medium chain acyl-CoA dehydrogenase (MCAD) deficiency in a homogeneous population. STUDY DESIGN: For the scenario without neonatal screening, medical chart review and interviews were performed with physicians and families of 116 Dutch patients born between 1985 and July 2003 with clinically ascertained MCAD deficiency. For the scenario with neonatal screening, 66,205 unaffected and 11 affected newborns identified by prospective neonatal screening for MCAD deficiency in the northern part of the Netherlands were evaluated. The incremental cost-effectiveness ratio (ICER) used life years (LYs) as the outcome measure by combining both scenarios in a decision model with second-order Monte Carlo simulation. RESULTS: For the scenarios with and without neonatal screening for MCAD deficiency, costs were $6.10 and $4.22 per newborn, respectively. The main cost categories were institutionalization (64%), admissions (17%), special education (8%), laboratory testing (4%), and (para)medical contact (4%). The resulting ICER was $1653 per LY gained. Sensitivity analysis generated an ICER between $14,839 and $4345 per LY gained. CONCLUSIONS: Screening for MCAD deficiency in a well-defined population generates an ICER well within accepted boundaries for cost-effective interventions, even after sensitivity analysis.
OBJECTIVE: To assess the cost-effectiveness of neonatal screening on medium chain acyl-CoA dehydrogenase (MCAD) deficiency in a homogeneous population. STUDY DESIGN: For the scenario without neonatal screening, medical chart review and interviews were performed with physicians and families of 116 Dutch patients born between 1985 and July 2003 with clinically ascertained MCAD deficiency. For the scenario with neonatal screening, 66,205 unaffected and 11 affected newborns identified by prospective neonatal screening for MCAD deficiency in the northern part of the Netherlands were evaluated. The incremental cost-effectiveness ratio (ICER) used life years (LYs) as the outcome measure by combining both scenarios in a decision model with second-order Monte Carlo simulation. RESULTS: For the scenarios with and without neonatal screening for MCAD deficiency, costs were $6.10 and $4.22 per newborn, respectively. The main cost categories were institutionalization (64%), admissions (17%), special education (8%), laboratory testing (4%), and (para)medical contact (4%). The resulting ICER was $1653 per LY gained. Sensitivity analysis generated an ICER between $14,839 and $4345 per LY gained. CONCLUSIONS: Screening for MCAD deficiency in a well-defined population generates an ICER well within accepted boundaries for cost-effective interventions, even after sensitivity analysis.
Authors: Maria D Karaceper; Sara D Khangura; Kumanan Wilson; Doug Coyle; Marni Brownell; Christine Davies; Linda Dodds; Annette Feigenbaum; Deshayne B Fell; Scott D Grosse; Astrid Guttmann; Steven Hawken; Robin Z Hayeems; Jonathan B Kronick; Anne-Marie Laberge; Julian Little; Aizeddin Mhanni; John J Mitchell; Meranda Nakhla; Murray Potter; Chitra Prasad; Cheryl Rockman-Greenberg; Rebecca Sparkes; Sylvia Stockler; Keiko Ueda; Hilary Vallance; Brenda J Wilson; Pranesh Chakraborty; Beth K Potter Journal: Orphanet J Rare Dis Date: 2019-03-22 Impact factor: 4.123