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The modernisation of newborn screening as a pan-European challenge - An international delphi study
Sandra Gillner1, Gulcin Gumus2, Edith Gross3
1KPM Center for Public Management, University of Bern, Freiburgstr. 3, 3010 Bern, Switzerland; Swiss Institute for Translational and Entrepreneurial Medicine (sitem-insel), Freiburgstr. 3, 3010 Bern, Switzerland.
Insights
Genomic newborn screening faces funding barriers, including treatability and workforce gaps. Experts suggest pan-European collaboration and centralized expertise to advance rare disease diagnosis at birth.
Area of Science:
- Genomics
- Public Health
- Rare Diseases
Background:
- Newborn screening is a vital public health initiative for early diagnosis of rare diseases.
- Genomic technologies offer expanded, cost-effective screening but face funding challenges.
- The European newborn screening landscape is diverse, complicating funding strategies.
Purpose of the Study:
- To determine if international experts share a common understanding of barriers to funding genomic newborn screening.
- To identify key obstacles hindering the public financing of expanded newborn screening programs.
Main Methods:
- A Delphi study involving 21 European newborn screening experts from various professional backgrounds.
- Three consecutive survey rounds to achieve stable consensus on identified barriers.
- Statistical analysis using the Wilcoxon matched-pairs signed-ranks test to confirm consensus.
Main Results:
- Experts reached stable consensus on all presented barriers to funding genomic newborn screening.
- The widespread availability of genomic newborn screening within seven years was deemed unlikely.
- Treatability of rare diseases and the lack of genetic counseling and a skilled workforce were identified as primary funding barriers.
Conclusions:
- Addressing treatability, genetic counseling, and workforce development is crucial for public funding of genomic newborn screening.
- Centralizing genomic expertise and fostering international research consortia are recommended for pan-European action.
- Achieving consensus among experts provides a foundation for future policy development and implementation.
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.
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