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The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn
Alice Bessey1, James Chilcott1, Abdullah Pandor1
1School of Health and Related Research, the University of Sheffield, Sheffield S1 4DA, UK.
Insights
Newborn bloodspot screening for five inborn errors of metabolism, including glutaric aciduria type 1 and maple syrup urine disease, is cost-effective. The UK National Screening Committee can use this evidence to improve newborn screening programs.
Area of Science:
- Metabolic Disorders
- Public Health Screening
- Cost-Effectiveness Analysis
Background:
- Five inborn errors of metabolism (IEMs) are detectable via newborn bloodspot screening.
- These IEMs include glutaric aciduria type 1, homocystinuria, isovaleric acidaemia, long-chain hydroxyacyl CoA dehydrogenase deficiency, and maple syrup urine disease.
Purpose of the Study:
- To evaluate the cost-effectiveness of including these five IEMs in the UK Newborn Bloodspot Screening Programme.
- To provide evidence for the UK National Screening Committee.
Main Methods:
- A decision-tree model with lifetable estimates was developed.
- Model parameters were informed by systematic review and expert clinical judgment.
- A National Health Service/Personal Social Services perspective was adopted, with a 1.5% discount rate for costs and QALYs.
Main Results:
- Screening for all five conditions was estimated to be more effective and cost-saving compared to no screening.
- Sensitivity analysis using updated UK incidence rates (2014-2018) confirmed the robustness of these findings.
- Key uncertainties identified include screening test sensitivity/specificity and estimated costs/QALYs.
Conclusions:
- The inclusion of these five IEMs in newborn bloodspot screening is recommended based on cost-effectiveness.
- The findings support the expansion of newborn screening programs for IEMs.
- Further research into screening test accuracy and economic parameters is warranted.
Abstract:
Glutaric aciduria type 1, homocystinuria, isovaleric acidaemia, long-chain hydroxyacyl CoA dehydrogenase deficiency and maple syrup urine disease are all inborn errors of metabolism that can be detected through newborn bloodspot screening. This evaluation was undertaken in 2013 to provide evidence to the UK National Screening Committee for the cost-effectiveness of including these five conditions in the UK Newborn Bloodspot Screening Programme. A decision-tree model with lifetable estimates of outcomes was built with the model structure and parameterisation informed by a systematic review and expert clinical judgment. A National Health Service/Personal Social Services perspective was used, and lifetime costs and quality-adjusted life years (QALYs) were discounted at 1.5%. Uncertainty in the results was explored using expected value of perfect information analysis methods together with a sensitivity analysis using the screened incidence rate in the UK from 2014 to 2018. The model estimates that screening for all the conditions is more effective and cost saving when compared to not screening for each of the conditions, and the results were robust to the updated incidence rates. The key uncertainties included the sensitivity and specificity of the screening test and the estimated costs and QALYs.
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