Newborn blood spot screening (NBS) in Germany : Status quo and presentation of aconcept for further development

Abstract

Newborn screening from dried blood spots (NBS) is ahighly effective secondary prevention measure that has been established for many years. Against the background of the inclusion of "new diseases" that meet the screening criteria, aconcept for the further advancement of NBS was developed on behalf of the GKV-Spitzenverband. This was based on asystematic literature review and asurvey of the status quo of NBS in Germany using quantitative and qualitative methods.It is essential for the success of NBS that all newborns affected by atarget disease are diagnosed and treated at an early stage and that the harm to be expected with each screening (e.g., due to false positive findings) is kept as low as possible. This requires the organisation of screening in the sense of an integrated programme through central coordination with standardised structures, continuous quality management and digitalisation in line with data protection requirements.Although in general NBS is being implemented successfully in Germany, the research project presented here also reveals weaknesses and aneed for action. Proposals and recommendations were compiled in aconcept paper, which shows approaches for further development of NBS in line with the current state of research in consideration of changing demands on the infrastructure and processes in the health system. This review article summarises the challenges, current status and possible solutions for the central topics of the concept paper.