Newborn screening in Europe Expert Opinion document

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FINAL 28/08/2011AbbreviationsBBMRICAHCFCHCPT II/CACTEUEUNENBSHTAMCADDMSUDNBSPKUQALYSCDWHOCoEBiobanking and Biomolecular Resources Research Infrastructurecongenital adrenal hyperplasiacystic fibrosiscongenital hypothyroidismcarnitine palmitoyltransferase II/carnitine-acylcarnitine translocaseEuropean UnionEuropean Union Network of Experts on Newborn Screeninghealth technology assessmentmedium chain acyl-CoA dehydrogenase deficiencymaple syrup urine diseaseneonatal screeningphenylketonuriaquality-adjusted life yearsickle cell diseaseWorld Health OrganisationCouncil of Europe6
FINAL 28/08/2011PrefaceThe EU Council Recommendation on Rare Diseases (9 June 2009) 1 , identified rare diseases(i.e.: a life-threatening or chronically debilitating condition affecting not more than 5 in10.000 persons in the Community) as a public health concern and highlighted the need forpublic health actions promoting the development of research on rare disorders and theimprovement of the health care of rare disease patients. Following this Recommendation, theEuropean Commission launched a tender on neonatal screening in July 2009 2 , to (1) report onthe practices of neonatal screening (NBS) for rare disorders implemented in all the MemberStates including number of centres, estimate the number of infants screened and the numberof disorders included in the NBS as well as reasons for the selection of these disorders, (2) toidentify types of medical management and follow-up implemented in the Member States, (3)to establish a network of experts analysing the information and formulating a final opinioncontaining recommendations on best practices and recommending a core panel of NBSconditions that could be included in all MS practices and (4) to develop a decision-makingmatrix that could be used by Member States‟ programs to systematically expand (or contract)screening mandates.A report on the practices on NBS, including medical management and follow-up, is providedin the Current Practices document. A network of experts (EUNENBS: European Network ofExperts on Newborn Screening) has been established. Their assessment and evaluation ofscreening possibilities and recommendations how to further implement NBS in a responsibleway are provided in this Expert Opinion document.These documents have been developed within the EU Council Recommendation perspectivethat rare diseases are a public health priority and that health systems‟ measures devoted to theimprovement of knowledge and care of rare disorders may result in a significant benefit forthe health condition of the EU populations. However, the actual opportunity of developing aneonatal screening program is to be assessed taking into consideration the overall needs andpriorities regarding health conditions and health system resources in a country as well as thefeasibility of international cooperation. These documents intend to support efficaciously thediscussion for the development of European policies in the field of NBS of rare disorders,including: the discussion of existing barriers; the proposals for solutions to be implemented, iffeasible, at EU level; and the development of a decision-making matrix that could be used byMember States to support decision-making on NBS.The goal of this Expert Opinion is to provide as far as possible a shared view of the factorsthat should be considered in the whole process of implementation of a neonatal screening,from the evaluation of its opportunity and definition of its benefit, to its actual implementationand the assessment of its efficacy and quality. Moreover, this document identifies theactivities for which the mechanisms of Community cooperation can be exploited profitably.Therefore, this document intends to provide the expertise for an EU framework of nationaldecision-making which balances the technological possibilities with ethical principles andlocal conditions. The principles outlined in this document apply to all parties offering tests,whether in or outside public health care. Cooperation between actors involved is needed.1 http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF2 http://ec.europa.eu/eahc/health/tenders_H09C2.html7
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