The modernisation of newborn screening as a pan-European challenge – An international delphi study

Abstract

Newborn screening is a public health measure to diagnose rare diseases at birth, thereby minimising negative effects of late treatment. Genomic technologies promise an unprecedented expansion of screened diseases at low cost and with transformative potential for newborn screening programmes. However, barriers to the public funding of genomic newborn screening are poorly understood, particularly in light of the heterogenous European newborn screening landscape. This study therefore aims to understand whether international newborn screening experts share a common understanding of the barriers to fund genomic newborn screening. For this purpose, we convened 21 European newborn screening experts across a range of professions and national backgrounds in a Delphi study. Stable consensus, determined via the Wilcoxon matched-pairs signed-ranks test, was found via three consecutive survey rounds for all presented barriers. Experts generally judged the scenario of genomic newborn screening being available to every newborn in seven years to be unlikely, identifying treatability and the absence of counselling and a skilled workforce as the most significant barriers to public funding. We identify value re-definition for rare disease treatments, centralisation of genomic expertise, and international research consortia as avenues for pan-European actions which build on the consensus achieved by our Delphi panel.