[Newborn screening: a prime example for effective secondary prevention]

Newborn screening is a medical population-based preventive measure for the early detection and initiation of therapy for all newborns with treatable endocrine and metabolic diseases. Left untreated, these diseases may lead to severe disabilities or even death. Target diseases have to meet the Wilson and Junger criteria on screening. A high sensitivity and specificity is ensured by an excellent analytic process. High process quality is achieved by offering newborn screening to all newborns and by clarifying pathologic findings very quickly. Therefore, in some federal states tracking centers have been established. Nationwide evaluation of process quality is annually performed and published online. The long-term outcome of diseased children has been investigated on a population-based level in Bavaria and at the University of Heidelberg in other studies. Between 2004 and 2012, 6.1 million children were screened (this is equivalent to 99 % of all newborns). The percentage of pathologic findings was 0.6 %. One out of 1300 children was affected by a target disease. For 90 % of these children, therapy started within the first 2 weeks of life. Studies on the long-term outcome show a positive effect on the course of disease, development of children, and the quality of life. In these studies, further challenges in care such as the first information given to parents regarding a pathologic finding or the care of adolescents with less compliance could also be identified. Newborn screening is an established preventive measure. With regard to ethical criteria and effectiveness, continuous evaluation of the process quality and the long-term outcome assure a high quality of the screening process.