Abstract
The objective of this study was to evaluate the cost-effectiveness of newborn screening and treatment for phenylketonuria (PKU) in the context of new data on adherence to recommended diet treatment and a newly available drug treatment (sapropterin dihydrochloride). A computer simulation model was developed to project outcomes for a hypothetical cohort of newborns with PKU. Four strategies were compared: (1) clinical identification (CI) with diet treatment; (2) newborn screening (NBS) with diet treatment; (3) CI with diet and medication (sapropterin dihydrochloride); and (4) NBS with diet and medication. Data sources included published literature, primary data, and expert opinion. From a societal perspective, newborn screening with diet treatment had an incremental cost-effectiveness ratio of $6400/QALY compared to clinical identification with diet treatment. Adding medication to NBS with diet treatment resulted in an incremental cost-effectiveness ratio of more than $16,000,000/QALY. Uncertainty analyses did not substantially alter the cost-effectiveness results. Newborn screening for PKU with diet treatment yields a cost-effectiveness ratio lower than many other recommended childhood prevention programs even if adherence is lower than previously assumed. Adding medication yields cost-effectiveness results unlikely to be considered favorable. Future research should consider conditions under which sapropterin dihydrochloride would be more economically attractive.
Highlights
Four intervention strategies were compared in the model in which the cohort was either assumed to be diagnosed through newborn screening (NBS) or the clinical setting, and assumed to receive diet treatment only or medication combined with diet treatment: (1) Clinical identification with diet treatment (CI/diet); (2) Newborn screening with diet treatment (NBS/diet); (3) Clinical identification with diet and medication (CI/diet with medication); and (4) Newborn screening with diet and medication (NBS/diet with medication)
For a cohort of 1000 individuals diagnosed with PKU, the base–case analysis results showed that NBS strategies had higher costs and quality-adjusted life year (QALY) when compared to the clinical identification (CI) strategies (Table 4)
When compared with CI/diet, NBS/diet had incremental costs of $2139 and incremental QALYs of 0.334 QALYs, which resulted in an incremental costeffectiveness ratios (ICERs) of $6400/QALY
Summary
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. Phenylketonuria (PKU, OMIM 212600) is an autosomal recessive inherited disorder of amino acid metabolism, affecting 5.3 to 7.4 newborns per 100,000 births in the US [1,2,3]. Mutations in the phenylalanine hydroxylase (PAH) gene prevent affected individuals with PKU from metabolizing the amino acid, phenylalanine [2]. The excess phenylalanine can lead to severe intellectual disability and seizures [4]. Even slightly suboptimal phenylalanine levels can result in subtle neurocognitive deficits, such as slower information processing and memory impairments [2]
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