par De Laet, Corinne 
;Laeremans, Hilde ;Ferster, Alina ;Gulbis, Béatrice ;Mansbach, Anne-Laure ;Jonniaux, E.;Regal, L.;Goyens, Philippe
Référence Revue médicale de Bruxelles, 36, 4, page (212-218)
Publication Publié, 2015-09
;Laeremans, Hilde ;Ferster, Alina ;Gulbis, Béatrice ;Mansbach, Anne-Laure ;Jonniaux, E.;Regal, L.;Goyens, Philippe Référence Revue médicale de Bruxelles, 36, 4, page (212-218)
Publication Publié, 2015-09
Article révisé par les pairs
| Résumé : | Newborn screening is a public health effort that has changed the prognosis of some congenital diseases. Newborn screening programmes differ between countries in which it is organized. Demographic, epidemiological or economic factors play a role in the choice of the screening panel. In the French Community of Belgium, the programme focuses on 13 metabolic and endocrine diseases, hearing loss and hemoglobinopathies (Brussels and Liege). Newborn screening is a complex process that requires the involvement of all stakeholders: parent information, blood sampling or testing, lab analysis, follow-up of the results, initiate adequate care in case of positive test and genetic counselling. Newborn screening programmes will evolve in the next years. New therapeutic and diagnostic methods will make other genetic diseases candidates for screening. Whole genome sequencing may be the next expansion ; it will create new opportunities but will pose new ethical dilemmas. We must all prepare now for future challenges. |
