Newborn screening—progress and challenges

Excerpt

Four years have passed since the International Symposium of the International Society for Neonatal Screening (ISNS) on Awaij Island in Japan provided the scientific material for the first and very successful special issue of the Journal of Inherited Metabolic Disease on this topic. Newborn screening, especially for inherited metabolic diseases, has always been a focal point for the Society for the Study of Inborn Errors of Metabolism (SSIEM) and its journal. Powered by developments in molecular medicine, reliable high-throughput multianalyte technologies, and new treatments, recent years have seen incredible progress in this field. The ISNS is a relatively new society, formed in 1991, and traditionally centred on the dissemination of information and networking among colleagues working directly in the field. It is developing into a broader platform, not only for the exchange of rapidly growing technical knowledge but with a central focus on providing care for the individual as well as the general population amidst the increasingly complex interplay among scientists, physicians, ethicists, patient groups, and advocates as well as public and political organisations. …