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Health economic analysis of the Swedish neonatal metabolic screening programme. A method of optimizing routines
Insights
Optimizing neonatal metabolic screening routines, this study found combined screening for phenylketonuria and galactosaemia offers the best benefit-cost ratio. Increasing newborn coverage significantly improves program efficiency.
Area of Science:
- Medical screening
- Public health
- Biochemistry
Background:
- Neonatal metabolic screening programs aim to detect and treat genetic disorders early.
- The Swedish neonatal screening program from 1965-1979 provided data for this analysis.
- Over one million infants were screened for phenylketonuria and galactosaemia using the Guthrie test.
Purpose of the Study:
- To conduct a benefit-cost analysis to optimize neonatal metabolic screening routines.
- To evaluate different combinations of screening tests, recall procedures, and coverage levels.
- To determine the most cost-effective approach for neonatal metabolic screening.
Main Methods:
- Benefit-cost ratio calculation.
- Analysis of screening data from the Swedish neonatal screening program (1965-1979).
- Evaluation of combined screening for phenylketonuria and galactosaemia, with varying phenylalanine thresholds and coverage.
Main Results:
- The highest benefit-cost ratio was achieved with combined screening for phenylketonuria and galactosaemia at a phenylalanine level of 0.50 mmol/L.
- Due to test inaccuracies, a lower phenylalanine level of 0.25 mmol/L was necessary, resulting in a reduced benefit-cost ratio.
- Increasing the current 98% newborn coverage was identified as an effective strategy to enhance the benefit-cost ratio.
Conclusions:
- Combined screening for phenylketonuria and galactosaemia is the most cost-effective strategy.
- Adjusting screening thresholds and improving coverage are crucial for optimizing benefit-cost ratios.
- Continuous evaluation and optimization of neonatal screening programs are essential for public health.
Abstract:
A benefit-cost analysis was carried out to optimize the routines for neonatal metabolic screening. The basis of the study was provided by results of the Swedish neonatal screening programme from 1965 to 1979. During this period over one million infants were screened by the Guthrie test for phenylketonuria and galactosaemia, and for limited periods also for tyrosinaemia, homocystinuria and histidinaemia. The benefit-cost ratio was calculated for combinations of different screening tests, recall routines, and varying degrees of coverage. The largest benefit-cost ratio was obtained with combined screening for phenylketonuria and galactosaemia, using a borderline blood phenylalanine level of 0.50 mmol/L in the Guthrie test for phenylketonuria. However, the inaccuracy of this test necessitated the use of a lower blood phenylalanine level of 0.25 mmol/L and the acceptance of a lower benefit-cost ratio. An increase in the present 98% coverage of newborns by the screening programme was found to be an effective means of improving the benefit-cost ratio in the present programme.