Principles and practices of newborn screening programs : Portuguese newborn screening program and the european framework

Trabalho Final de Mestrado Integrado, Ciências Farmacêuticas, Universidade de Lisboa, Faculdade de Farmácia, 2014Newborn Screening Programs were created with the intention to improve the life and health of newborn suffering from rare conditions. These programs allow the early clinical management of the diseases, preventing its clinical development and symptoms. However, the setting of such a program is harder than it resembles. The basic principles that are taken into consideration for setting the panel of screened condition are the same around Europe. Still, national pressures and conditions play an important role in the establishment of the panel which explain the variations among Europe. With the genomics era, the national differences among Europe member countries increased. The technological developments allowed the access to a lot more information than required for a screening test and to the uncertainty about what to do with it. It also opened doors to a change in the paradigm of newborn screening, where samples collected to perform screening could be used to the whole population benefit through epidemiological testing and research in comparison to the initial newborn welfare. Changing the base in which Newborn Screening Programs where initially set up raised the need for changes in the whole infrastructure that supports the program: informed consent, parental education, support to positively screened child, storage of samples, etc. The Portuguese Newborn Screening Program came a long way since its establishment. The investments allowed the enlargement of the number of screened diseases, and the Screening Program is well documented in the Portuguese law. However, the improvement of a Screening Program is a work in progress and there are still components of the Portuguese one that need revision. The collaboration among European Union member states is a way to improve the European Screening Programs through collaboration and regulation at a central level. The exchange of expertise can improve the programs in terms of screening tests and to fight ethical dilemmas intrinsic to the technological developments in Newborn Screening