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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 2/2012

Open Access 01-11-2012 | Meeting abstract

HTA on neonatal screening for rare metabolic disorders faced misconceptions and blurred objectivity

Author: Ilona Autti-Rämö

Published in: Orphanet Journal of Rare Diseases | Special Issue 2/2012

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Excerpt

The genetic background of the Finnish population has led to a unique epidemiology for some the rare hereditary disorders. In particular the incidence of PKU-is very low, less than 1:100000. Finland has screened only for congenital hypothyroidism from cord blood since 1984. A proposal to start a pilot study on screening with MS/MS with the cost estimation of 1-3€/newborn necessitated a Health technology assessment (HTA). In this article the major problems encountered during the assessment process and thereafter are presented. …
Literature
1.
Autti-Rämö I, Laajalahti L, Koskinen H, Sintonen H, Mäkelä M: Screening for rare metabolic dises in newborn infants. Finohta report 22/2204.
2.
Autti-Rämö I, Mäkelä M, Sintonen H, Koskinen H, Laajalahti L, Halila R, Kääriäinen H, Lapatto R, Näntö-Salonen K, Pulkki K, Renlund K, Salo M, Tyni T: Expanding screening for rare metabolic diseases in the newborn: An analysis of costs, effect and ethical consequences for decision making in Finland. Acta Paediatr. 2005, 94: 1126-1136. 10.1080/08035250510029497.CrossRefPubMed
3.
Leipälä J, Saalasti-Koskinen U, Blom M, Autti-Rämö I, Gissler M, Hämäläinen E, Paganus A, isojärvi J, Kääriäinen H, Renlund M, Mäkelä M: Fenylketonurian seulonta Suomessa (Screening for phenylketonuria in Finland). Finohta; 2008.
Metadata
Title
HTA on neonatal screening for rare metabolic disorders faced misconceptions and blurred objectivity
Author
Ilona Autti-Rämö
Publication date
01-11-2012
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue Special Issue 2/2012
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/1750-1172-7-S2-A17

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