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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.
The European Union (EU) Council Recommendation1 on Rare Diseases (9 June 2009)2 identified rare diseases (ie, a life-threatening or chronically debilitating condition affecting not more than five in 10000 persons in the community) as a public health concern and highlighted the need for public health actions, promoting the development of research on rare disorders and the improvement of the health care of rare disease patients. Following this recommendation, the European Commission launched a tender on neonatal screening (=newborn screening, NBS) in July 2009 (http://ec.europa.eu/eahc/health/tenders_H09C2.html) in order to (1) report on the practices of neonatal screening for rare disorders implemented in all the member states, including number of centers, estimate the number of infants screened and the number of disorders included in the NBS, as well as reasons for the selection of these disorders, (2) to identify types of medical management and follow-up implemented in the member states, (3) to establish a network of experts analyzing the information and formulating a final opinion containing recommendations on best practices, and recommending a core panel of NBS conditions that could be included in all MS practices, and (4) to develop a decision-making matrix that could be used by member states' programs to systematically expand (or contract) screening mandates.
The focus of the tender activities was on NBS by using laboratory testing techniques (blood spot screening). All reports are available on the internet (http://www.iss.it/cnmr/prog/cont.php?id=1621&lang=1&tipo=64).
To get some insight into the current practices (points 1 and 2 above), an online survey was compiled and filled out by EU member states, (potential) member states and European Free Trade Association countries – in total 40 countries. Apart from the final report, available on the internet, the current practices are summarized in two journal articles: the first publication addresses the steps in screening programmes from blood spot to screening result3 and the second publication addresses the steps from screening laboratory results to treatment, follow-up and quality assurance.4
As a third part of the activity and work methodology requested by the tender specifications, a European Union Network of Experts on Newborn Screening (EUNENBS) had to be constituted. Criteria for the inclusion of experts in EUNENBS (http://www.iss.it/cnmr/prog/cont.php?id=1621&lang=1&tipo=64) include that all member states' authorities should be represented in the network. Each countries' competent authorities were invited to identify their experts to represent the country at the workshops in 2010 and 2011. Further experts represent European professional and scientific organizations involved in NBS, the representative of the US Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, additional fields of expertise (eg, ethics) and patient organizations. The list of EUNENBS members is available as Appendix 1 of the Expert Opinion document (http://www.iss.it/cnmr/prog/cont.php?id=1621&lang=1&tipo=64). Most EUNENBS members have a background in health policy making, health technology assessment (HTA) and/or coordinating screening programs, many are involved in the service delivery of NBS in pediatrics, laboratory medicine and genetics. The task of EUNENBS was to supervise the work of the tender and participate in the revision of the tender deliverables, including the Expert Opinion document. The EUNENBS members have provided informally their input and advice without implying any obligation or commitment of their national authorities or organizations. Working documents were prepared reviewing most relevant scientific literature on the development of NBS policy and submitted to EUNENBS to stimulate the discussion during its meeting held on 6–7 December 2010, where the future of NBS was discussed in a workshop. Conclusions were integrated in a draft of the Expert Opinion document that was circulated by e-mail on 9 March 2011 to the membership of EUNENBS and to European Union Committee of Experts on Rare Diseases members from the Candidate and European Economic Area/European Free Trade Association countries inviting comments. This consultation ended on 6 April 2011. The preparation of the second draft, integrating the suggestions received, took place until 6 May 2011. Before the consensus meeting on 20 and 21 June 2011 in Luxembourg, the document was circulated for a second consultation, which took place from 11 to 27 May 2011, and amended considering the comments received. The Expert Opinion document was endorsed by the Boards of the International Society for Neonatal Screening and the European Society of Human Genetics in August and October 2011.
Experiences from other countries have served as useful sources, although their applicability may need to be checked against information from EU countries and agreement needs to be sought with EUNENBS. This article presents the 70 Expert Opinions, resulting from the debate among the EUNENBS members with respect to the elements that are part of a system to evaluate the quality and ethical aspects of neonatal screening in the light of available literature, as well as the proposal for a decision matrix. We furthermore provide a brief discussion.
Experts from a diversity of backgrounds in health policy making, coordinating screening programs, laboratory and clinic engaged in a series of meetings in 2010 and 2011 to analyze the diversity of NBS practices in EU and other countries and to develop Expert Opinions on NBS policy. NBS programmes are very diverse in these countries. Given the fast technological changes and the increasing possibilities to treat or even cure rare diseases diagnosed after NBS, the importance of developing a reference framework for NBS practices and policy making became clear.
Not only in Europe, also in the USA and other continents NBS is under revision. Horizon scanning, quality control, epidemiological follow-up and other activities may profit from international collaboration, for instance with the USA Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (http://www.thefederalregister.com/d.p/2010-04-26-2010-9625). For the follow-up, it is of great importance that case definitions are the same world-wide (expert opinion no. 13). The International Society for Neonatal Screening could have an important role here.
The analyses and opinions agreed by the EUNENBS experts within this tender have been presented to the European Union Committee of Experts on Rare Diseases. This advisory committee for EU policy on rare diseases is now debating on collaborative solutions to further improve their NBS programs and fill the gaps highlighted in the tender documents without impacting on their national prerogatives in the delivery of care.
Beside the initiatives that will be taken at EU level, the analyses and opinions produced by the tender activities may guide further national policy developments, bilateral and international initiatives.
This work is funded by the EU with a grant of Euro 399755 (contract number 2009 62 06 of the Executive Agency for Health and Consumers). The opinions expressed in this document are those of the contractor only and do not represent the official position of the Executive Agency for Health and Consumers. We are gratefully indebted to the members of EUNENBS.