A framework to start the debate on neonatal screening policies in the EU: An Expert Opinion Document

European Journal of Human Genetics

Volumn 22, Issue 1, 2014, Pages 12-17

  Cornel, Martina C ^a   Rigter, Tessel ^a   Weinreich, Stephanie S ^a   Burgard, Peter ^b   Hoffmann, Georg F ^b   Lindner, Martin ^b   Gerard Loeber, J ^c   Rupp, Kathrin ^b   Taruscio, Domenica ^d   Vittozzi, Luciano ^d  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c NATIONAL INSTITUTE FOR PUBLIC HEALTH AND THE ENVIRONMENT   (Netherlands)

^d National Centre for Rare Diseases   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLOOD SAMPLING; CONCEPTUAL FRAMEWORK; CONSENSUS DEVELOPMENT; EUROPEAN UNION; FOLLOW UP; GOOD LABORATORY PRACTICE; HEALTH CARE INDUSTRY; HEALTH CARE ORGANIZATION; HEALTH CARE PERSONNEL; HEALTH CARE POLICY; HEALTH CARE SYSTEM; HEALTH PROGRAM; INFORMED CONSENT; INTERPERSONAL COMMUNICATION; LABORATORY TEST; MEDICAL DECISION MAKING; MEDICAL EXPERT; NEWBORN SCREENING; PRACTICE GUIDELINE; PRIORITY JOURNAL; QUALITY CONTROL; RARE DISEASE; EXPERT WITNESS; GENETICS; HUMAN; NEWBORN; PARENT; RARE DISEASES;

EUROPEAN UNION; EXPERT TESTIMONY; HEALTH SYSTEMS AGENCIES; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PARENTS; RARE DISEASES;

EID: 84890797723     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.90     Document Type: Article

References (8)

1. Wilson JMG, Jungner G: Principles and Practice of Screening for Disease. Geneva: WHO, 1968. Available from: http://whqlibdoc.who.int/php/WHO-PHP-34.pdf
2. Council Recommendation of 8 June 2009 on an action in the field of rare diseases. Available from: http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri= OJ:C:2009:151: 0007:0010:EN:PDF
3. Loeber JG, Burgard B, Cornel MC et al: Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1-from blood spot to screening result. J Inherit Metab Dis 2012; 35: 603-611.
4. Burgard P, Rupp K, Lindner M et al: Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2-from screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis 2012; 35: 613-625.
5. Kristensen FB, Mäkelä M, Neikter SA et al: European network for Health Technology Assessment (EUnetHTA). European network for health technology assessment, EUnetHTA: planning, development, and implementation of a sustainable European network for health technology assessment. Int J Technol Assess Health Care 2009; 25:Suppl 2 107-116.
6. EUnetHTA Joint Action-new phase in EUnetHTA development. Available from: http://www.eunethta.eu/Public/Home/7
7. Grosse SD, Rogowski WH, Ross LF, Cornel MC, Dondorp WJ, Khoury MJ: Population screening for genetic disorders in the 21st century: evidence, economics, and ethics. Public Health Genomics 2010; 13: 106-115.
8. Calonge N, Green NS, Rinaldo P et al: Advisory Committee on Heritable Disorders in Newborns and Children. Committee report: method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med 2010; 12: 153-159.