title: A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.
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.
authors: Clinical Genetics and EMGO Institute for Health and Care Research, VU University Medical Centre, Amsterdam, The Netherlands.
authors: Martina C
authors: MC
authors: Cornel
authors: Clinical Genetics and EMGO Institute for Health and Care Research, VU University Medical Centre, Amsterdam, The Netherlands.
authors: Tessel
authors: T
authors: Rigter
authors: Clinical Genetics and EMGO Institute for Health and Care Research, VU University Medical Centre, Amsterdam, The Netherlands.
authors: Stephanie S
authors: SS
authors: Weinreich
authors: Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany.
authors: Peter
authors: P
authors: Burgard
authors: Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany.
authors: Georg F
authors: GF
authors: Hoffmann
authors: Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany.
authors: Martin
authors: M
authors: Lindner
authors: Laboratory for Infectious Diseases and Perinatal Screening, National Institute for Public Health, Bilthoven, The Netherlands.
authors: J
authors: J
authors: Gerard Loeber
authors: Centre for Paediatric and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany.
authors: Kathrin
authors: K
authors: Rupp
authors: National Centre for Rare Diseases, Rome, Italy.
authors: Domenica
authors: D
authors: Taruscio
authors: National Centre for Rare Diseases, Rome, Italy.
authors: Luciano
authors: L
authors: Vittozzi
mesh_terms: D005062:European Union; D006307:Health Systems Agencies; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D010290:Parents; D035583:Rare Diseases / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy
references: J Inherit Metab Dis. 2012 Jul;35(4):613-25
references: 22544437
references: Int J Technol Assess Health Care. 2009 Dec;25 Suppl 2:107-16
references: 20030898
references: Genet Med. 2010 Mar;12(3):153-9
references: 20154628
references: Public Health Genomics. 2010;13(2):106-15
references: 19556749
references: J Inherit Metab Dis. 2012 Jul;35(4):603-11
references: 22552820