Expert Opinion on Neonatal Screening Policies in the EU

EU Council Recommendation on rare diseases urged the member states to implement national and EU collaborative actions to improve the health care of rare disease patients. Following this recommendation, the European Commission launched a tender on newborn screening (NBS) to report on current practices of laboratory testing, form a network of experts and provide guidance on how to further implement NBS in a responsible way. After consultation, 70 expert opinions were finalized. They included the need to develop case definitions for all disorders screened for to facilitate assessment and international outcome studies. Decision whether a screening program should be performed can be based on screening criteria updated from the traditional Wilson and Jungner criteria, relating to disease, treatment, test and cost. The interest of the child should be central in the assessment of pros and cons. The full text of the expert opinion document is published in the European Journal of Human Genetics.