title: Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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 euros 2.5 million or euros 45 per newborn when starting costs were included. The costs per quality-adjusted life year (QALY) gained are a maximum of euros 25,500. Prevention of severe handicap in one newborn would reduce the costs to a maximum of euros 18,000 per QALY gained.
  
  
  CONCLUSIONS
  Expanding the Finnish neonatal screening programme would require a new organization. The cost-effectiveness, resources, ethics and equity need to be considered when deciding in favour of or against starting a new screening programme.
authors.affiliation: Finnish Office for Health Care Technology Assessment, National Research and Development Centre for Welfare and Health (STAKES), Helsinki, Finland. ilona.autti-ramo@stakes.fi
authors.forename: Ilona
authors.initials: I
authors.lastname: Autti-Rämö
authors.forename: Marjukka
authors.initials: M
authors.lastname: Mäkelä
authors.forename: Harri
authors.initials: H
authors.lastname: Sintonen
authors.forename: Hanna
authors.initials: H
authors.lastname: Koskinen
authors.forename: Liisa
authors.initials: L
authors.lastname: Laajalahti
authors.forename: Ritva
authors.initials: R
authors.lastname: Halila
authors.forename: Helena
authors.initials: H
authors.lastname: Kääriäinen
authors.forename: Risto
authors.initials: R
authors.lastname: Lapatto
authors.forename: Kirsti
authors.initials: K
authors.lastname: Näntö-Salonen
authors.forename: Kari
authors.initials: K
authors.lastname: Pulkki
authors.forename: Martin
authors.initials: M
authors.lastname: Renlund
authors.forename: Matti
authors.initials: M
authors.lastname: Salo
authors.forename: Tiina
authors.initials: T
authors.lastname: Tyni
mesh_terms: D003362:Cost-Benefit Analysis; D003657:Decision Making; D005260:Female; D005387:Finland / Q000453:epidemiology; D017048:Health Care Costs; D019538:Health Care Surveys; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening / Q000191:economics / Q000941:ethics; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000191:economics / Q000453:epidemiology; D015997:Neonatal Screening / Q000191:economics* / Q000941:ethics*; D019057:Quality-Adjusted Life Years; D035583:Rare Diseases; D012042:Registries; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index