A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-01

AUTHORS

Martina C Cornel, Tessel Rigter, Stephanie S Weinreich, Peter Burgard, Georg F Hoffmann, Martin Lindner, J Gerard Loeber, Kathrin Rupp, Domenica Taruscio, Luciano Vittozzi

ABSTRACT

The European Union (EU) Council Recommendation on rare diseases urged the member states to implement national and EU collaborative actions to improve the health care of rare disease patients. Following this recommendation, the European Commission launched a tender on newborn screening (NBS) to report on current practices of laboratory testing, form a network of experts and provide guidance on how to further implement NBS screening in a responsible way, the latter of which was provided in an Expert Opinion document. After consultation of experts from EU member states, (potential) candidate member states and European Free Trade Association countries, in a consensus meeting in June 2011, 70 expert opinions were finalized. They included the need to develop case definitions for all disorders screened for to facilitate assessment and international outcome studies. Decision whether a screening program should be performed can be based on screening criteria updated from the traditional Wilson and Jungner (1968) criteria, relating to disease, treatment, test and cost. The interest of the child should be central in the assessment of pros and cons. A European NBS body should assess evidence on (new) screening candidate disorders. For rare conditions, best level evidence should be used. The health system should ensure treatment to cases diagnosed by screening, controlled and revised by follow-up outcome studies. Screening methodology should aim to avoid unintended findings, such as mild forms and carrier status information, as much as possible. Activities to improve NBS in Europe, such as training and scientific evaluation, could benefit from collaboration at EU level and beyond. More... »

PAGES

12

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2013.90

DOI

http://dx.doi.org/10.1038/ejhg.2013.90

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1045953241

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23652378


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