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Expanding screening for rare metabolic disease in the newborn: An analysis of costs, effect and ethical consequences for decision‐making in Finland

Aim: Currently, the only metabolic disorder that newborns are screened for in Finland is congenital hypothyroidism. A proposal to start a pilot study on screening for other rare metabolic diseases using tandem mass spectrometry prompted a health technology assessment project on the effect and costs of expanded newborn screening programme options. Method: A modelling study using data from current published studies, healthcare registers and expert opinion. Results: The annual running cost of screening 56 000 newborns for the chosen five disorders (congenital adrenal hyperplasia, medium‐chain acyl‐CoA dehydrogenase deficiency [MCADD], long chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency [LCHADD], phenylketonuria [PKU] and glutaric aciduria type 1 [GA 1]) was estimated to be €2.5 million or €45 per newborn when starting costs were included. The costs per quality‐adjusted life year (QALY) gained are a maximum of €25 500. Prevention of severe handicap in one newborn would reduce the costs to a maximum of €18 000 per QALY gained.