Newborn screening in Europe Expert Opinion document

More documents

Recommendations

Info

FINAL 28/08/20112
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
Page 1: FINAL 28/08/2011EU Tender“Evaluat
Page 5 and 6: FINAL 28/08/2011AcknowledgmentsThe
Page 7 and 8: FINAL 28/08/2011PrefaceThe EU Counc
Page 9 and 10: FINAL 28/08/20111. IntroductionMore
Page 11 and 12: FINAL 28/08/2011health care service
Page 13 and 14: FINAL 28/08/2011of carrier status o
Page 15 and 16: FINAL 28/08/2011Non-discrimination
Page 17 and 18: FINAL 28/08/2011Chapter 3: Who: Gov
Page 19 and 20: FINAL 28/08/2011Table 1: Issues to
Page 21 and 22: FINAL 28/08/2011Expert opinion on g
Page 23 and 24: FINAL 28/08/20114. Criteria to eval
Page 25 and 26: FINAL 28/08/2011discovered and trea
Page 27 and 28: FINAL 28/08/2011The discussion by t
Page 29 and 30: FINAL 28/08/2011Expert opinion to e
Page 31 and 32: FINAL 28/08/20115. Criteria on how
Page 33 and 34: FINAL 28/08/2011very difficult to j
Page 35 and 36: FINAL 28/08/2011may even be needed
Page 37 and 38: FINAL 28/08/2011Communication of un
Page 39 and 40: FINAL 28/08/2011Epidemiological eva
Page 41 and 42: FINAL 28/08/2011The NBS program sho
Page 43 and 44: FINAL 28/08/20117. Proposal for a m
Page 45 and 46: FINAL 28/08/2011vii) Are there pati
Page 47 and 48: FINAL 28/08/2011Germany Kulig Micha
Page 49: FINAL 28/08/2011Secretary'sAdvisory

Newborn screening in Europe Expert Opinion document

Create successful ePaper yourself

Delete template?

Save as template?