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Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis
Johannes Pfeil, Stefan Listl, Georg F Hoffmann
1Department of General Paediatrics, Division of Inherited Metabolic Diseases, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg 69120, Germany. peter.burgard@med.uni-heidelberg.de.
Insights
Newborn screening for Glutaric aciduria type I (GA-I) is cost-effective. Early GA-I diagnosis via MS/MS screening saves lives and reduces healthcare costs, making it a valuable addition to existing newborn screening programs.
Area of Science:
- Medical Genetics
- Metabolic Disorders
- Public Health Screening
Background:
- Glutaric aciduria type I (GA-I) is a rare inherited metabolic disorder.
- Limited newborn screening for GA-I exists despite its prognostic importance.
- Data on the cost-effectiveness of GA-I newborn screening is scarce.
Purpose of the Study:
- To assess the cost-effectiveness of newborn screening for GA-I using tandem mass spectrometry (MS/MS).
- To compare GA-I screening against not including it in the MS/MS screening panel.
- To provide data for healthcare decision-makers on the value of GA-I screening.
Main Methods:
- A Markov model was developed to simulate clinical outcomes.
- Simulations covered 20- and 70-year time horizons for screened and unscreened newborns.
- Probabilistic sensitivity analysis (Monte Carlo simulation) determined cost-effectiveness.
Main Results:
- GA-I screening averted 3.7 DALYs per 100,000 neonates over 20 years.
- Approximately one life year was gained per 100,000 screened neonates.
- The screening program resulted in savings of ~€30,682 per 100,000 neonates over 20 years.
Conclusions:
- Extending MS/MS newborn screening with GA-I is a highly cost-effective diagnostic strategy.
- This conclusion is based on conditions comparable to the German healthcare system.
- The study supports the integration of GA-I screening into existing newborn screening programs.
Background:
Glutaric aciduria type I (GA-I) is a rare metabolic disorder caused by inherited deficiency of glutaryl-CoA dehydrogenase. Despite high prognostic relevance of early diagnosis and start of metabolic treatment as well as an additional cost saving potential later in life, only a limited number of countries recommend newborn screening for GA-I. So far only limited data is available enabling health care decision makers to evaluate whether investing into GA-I screening represents value for money. The aim of our study was therefore to assess the cost-effectiveness of newborn screening for GA-I by tandem mass spectrometry (MS/MS) compared to a scenario where GA-I is not included in the MS/MS screening panel.
Methods:
We assessed the cost-effectiveness of newborn screening for GA-I against the alternative of not including GA-I in MS/MS screening. A Markov model was developed simulating the clinical course of screened and unscreened newborns within different time horizons of 20 and 70 years. Monte Carlo simulation based probabilistic sensitivity analysis was used to determine the probability of GA-I screening representing a cost-effective therapeutic strategy.
Results:
Within a 20 year time horizon, GA-I screening averts approximately 3.7 DALYs (95% CI 2.9 - 4.5) and about one life year is gained (95% CI 0.7 - 1.4) per 100,000 neonates screened initially . Moreover, the screening programme saves a total of around 30,682 Euro (95% CI 14,343 to 49,176 Euro) per 100,000 screened neonates over a 20 year time horizon.
Conclusion:
Within the limitations of the present study, extending pre-existing MS/MS newborn screening programmes by GA-I represents a highly cost-effective diagnostic strategy when assessed under conditions comparable to the German health care system.
