Newborn screening in Europe Expert Opinion document

FINAL 28/08/2011Table of ContentsAcknowledgments ...................................................................................................................... 5Abbreviations ............................................................................................................................. 6Preface ........................................................................................................................................ 71. Introduction ............................................................................................................................ 9Opportunities and threats for neonatal screening in the next decade ..................................... 9The need for an overall framework for the assessment of neonatal screening..................... 10Neonatal screening vs genetic screening .............................................................................. 12Rare diseases vs common late-onset diseases ...................................................................... 13Neonatal screening vs general healthcare strategies ............................................................ 13Relevant charters, declarations and principles recognised by EU member states................ 142. Work methodology ............................................................................................................... 163. Governance of neonatal screening ....................................................................................... 18Should NBS be mandated for public health authorities or parents?..................................... 204. Criteria to evaluate whether a screening program should be performed (desirability) ........ 23Disease ................................................................................................................................. 24Treatment ............................................................................................................................. 26Test ....................................................................................................................................... 27Cost ....................................................................................................................................... 275. Criteria on how a screening program should be performed ................................................. 31Training of relevant health care providers ........................................................................... 31Information to prospective parents ....................................................................................... 32Informed consent .................................................................................................................. 32Blood spot sampling ............................................................................................................. 33Laboratory Procedures ......................................................................................................... 34Blood spot storage ................................................................................................................ 34Communication of positive result ........................................................................................ 35Confirmation of diagnosis and treatment ............................................................................. 36Communication of unintended findings ............................................................................... 37Quality assurance of laboratory results ................................................................................ 38Screening program evaluation ............................................................................................. 38Epidemiological evaluation .................................................................................................. 396. Strategies for implementation .............................................................................................. 40Strategies for implementation at international level............................................................. 403