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

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.
Competing Interests: Declaration of competing interest Anne-Sophie Chalandon and Alicia Granados are employed by Sanofi S.A. The views presented here are those of the authors and not necessarily those of Sanofi S.A., its directors, officers, or staff. Julian Nam is employed by F. Hoffmann-La Roche Ltd. The views presented here are those of the authors and not necessarily those of F. Hoffmann-La Roche Ltd., its directors, officers, or staff. Andreas Clemens is employed by Novartis AG. The views presented here are those of the authors and not necessarily those of Novartis AG, its directors, officers, or staff. All other authors declare that they have no conflict of interest.
(Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)