Newborn screening in Europe Expert Opinion document

FINAL 28/08/2011population health, ranging from health promotion and disease prevention to treatment andrehabilitation. 22 Moreover, benefits tend to be defined more broadly now to include moreintermediate outcomes, such as preparing parents prior to the onset of illness and reduction inthe length of the diagnostic odyssey, even if life expectancy or quality of life of the patientmay not be altered. As the definition of benefit evolves, this raises questions of what issocially acceptable. The potentially broadening goals of NBS (from identifying conditionswhere irreparable health damage can be avoided by early diagnosis to include reduction ofdiagnostic odyssey) should be subject to public debate.Neonatal screening programs and related interventions should be defined in a way that theyare consistent with the overall health care strategies, capacities and the culture of a country.Screening goals and benefits should be assessed versus goals and benefitsestablished/accepted for other clinical and public health interventions and strategies adoptedin the country. The opportunity offered by neonatal screening should also be assessed takinginto consideration the possibility of screening at a later life stage, for those goals(reproductive choices?) and disorders where preventive intervention is still timely, so thatparticipation in screening can be decided directly by the subject. Presymptomatic testing inminors shall generally be limited to conditions where there is direct benefit, because earlytreatment can prevent irreparable damage.Relevant charters, declarations and principles recognised by EUmember statesBesides the Wilson and Jungner criteria 25 for neonatal screening (Chapter 4), which have beenfollowed with varying flexibility in many EU countries, other principles have been developedfor different purposes, which, however, have bearing on the context of neonatal screening andon this document.Article 168 of the Treaty on European Union 26 indicates that a high level of health protectionis to be sought in the Union policies, with the European Union action being subsidiary tonational policies.In 2006 the EU EPSCO Council also signed a declaration 27 recognizing that universality,access to good quality care, equity and solidarity are common values of the EU healthsystems, although differences in approaches and the need for financial sustainability limit theuniform operation of the health care in EU. It is also recognised that EU citizens should findhealth systems anywhere in the EU that operate on principles such as quality; safety; care thatis based on evidence and ethics; patient involvement; redress; privacy and confidentiality.The charter of fundamental rights of the European Union 28 , solemnly proclaimed by the EUParliament, the Council and the Commission in 2007, recognises, among other fundamentalrights:the free and informed consent of the person concernedthe prohibition of eugenic practices25 http://whqlibdoc.who.int/php/WHO_PHP_34.pdf26 http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2010:083:0047:0200:EN:PDF27 http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2006:146:0001:0003:EN:PDF28 http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2007:303:0001:0016:EN:PDF14