Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
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.
Autti-Rämö
Ilona
I
Finnish Office for Health Care Technology Assessment, National Research and Development Centre for Welfare and Health (STAKES), Helsinki, Finland. ilona.autti-ramo@stakes.fi
Mäkelä
Marjukka
M
Sintonen
Harri
H
Koskinen
Hanna
H
Laajalahti
Liisa
L
Halila
Ritva
R
Kääriäinen
Helena
H
Lapatto
Risto
R
Näntö-Salonen
Kirsti
K
Pulkki
Kari
K
Renlund
Martin
M
Salo
Matti
M
Tyni
Tiina
T
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