“Ins and Outs of Newborn Screening” is the title of the upcoming in-person course organised by the Recordati Rare Diseases Foundation. The course will take place in Amsterdam on 12-14 October 2026.
Since the introduction of newborn screening (NBS) for phenylketonuria in the 1960’s, NBS programmes have significantly expanded, aided by new and improved technologies that have become available over the years. Despite this, there are still huge disparities in the number of conditions screened for among countries and healthcare systems. This could suggest that decisions around screening are not solely driven by the availability of a test and a therapeutic intervention.
This course will explore the performance of current screening programmes and their long-term outcomes, new diagnostic methods such as genomics, proteomics, and metabolomics and their sensitivity and specificity in different populations. Moreover, the course will focus on the evidence required to support the introduction of a new screening programme, the ethics and health economics of screening, as well as the ways to assess and refine screening programmes.
The programme is addressing clinical geneticists, metabolic physicians, paediatricians, neonatologists, and lab scientists. Registration is now open, and the deadline for registering is the 14th of August 2026.
