Expansion of newborn screening for inherited metabolic disorders – ethical questions
Authors:
V. Franková 1,2; F. Votava 3; V. Kožich 1
Authors‘ workplace:
Ústav dědičných metabolických poruch, UK 1. lékařská fakulta a Všeobecná fakultní nemocnice, Prahapřednosta prof. MUDr. V. Kožich, CSc.
1; Ústav humanitních studií v lékařství, UK 1. lékařská fakulta, Prahapřednosta doc. ThDr. V. Ventura, ThD.
2; Klinika dětí a dorostu, UK 3. lékařská fakulta a FN Královské Vinohrady, Prahapřednosta doc. MUDr. F. Votava, Ph. D.
3
Published in:
Čes-slov Pediat 2014; 69 (2): 87-94.
Category:
Original Papers
Overview
Newborn screening program in the Czech Republic includes 10 inherited metabolic disorders and its expansion is planned as a result of ongoing pilot study. Which disorders should be added and what criteria used for their selection are the key ethical questions closely connected with every screening panel expansion. Traditional screening criteria can function as guidelines even if their universal applicability has been questioned by new biotechnologies and scientific progress. Apart from the benefit from early diagnosis and effective treatment the newborn screening program also poses risks from false-positive and false-negative results as well as detection of conditions with no clinical significance. Before adding a new disorder to the screening panel it is necessary to evaluate the balance between health benefits and potential harms. Furthermore it is important to assess its cost-effectiveness also from the perspective of the whole healthcare system. All newborn screening programs need to evaluate these aspects regularly also for already established panel of diseases and search for new biotechnological solutions to minimize associated risks. Another essential task is to provide parents with all the necessary information in accessible form.
Key words:
newborn screening, inherited metabolic disorders, ethics
Sources
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Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2014 Issue 2
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