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

Abstract

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 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: Ilona Autti-Rämö, Marjukka Mäkelä, Harri Sintonen, Hanna Koskinen, Liisa Laajalahti, Ritva Halila, Helena Kääriäinen, Risto Lapatto, Kirsti Näntö-Salonen, Kari Pulkki, Martin Renlund, Matti Salo, Tiina Tyni
• Journal: Acta paediatrica (Oslo, Norway : 1992) (Acta Paediatr) Vol. 94 Issue 8 Pg. 1126-36 (Aug 2005) ISSN: 0803-5253 [Print] Norway
• PMID: 16188860 (Publication Type: Comparative Study, Journal Article)

Topics

• Cost-Benefit Analysis
• Decision Making
• Female
• Finland (epidemiology)
• Health Care Costs
• Health Care Surveys
• Humans
• Infant, Newborn
• Male
• Mass Screening (economics, ethics)
• Metabolism, Inborn Errors (diagnosis, economics, epidemiology)
• Neonatal Screening (economics, ethics)
• Quality-Adjusted Life Years
• Rare Diseases
• Registries
• Risk Assessment
• Sensitivity and Specificity
• Severity of Illness Index