ArticlePublic health genomics2026
Key Outcomes from a Stakeholder Workshop on Genomic Newborn Screening: Recommended Next Steps for the Integration of Genomics into Public Health Programs.
Article in Public health genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1 citing paper in PubMed.
- Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies.Journal of human immunity · 2026Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionTechnical advances and decreasing costs of next-generation sequencing have generated global interest in its potential for newborn screening (NBS). Genomic NBS (gNBS) enables the expansion of detectable conditions as a first-tier test and can improve screening accuracy as a second-tier test. A shared vision among all involved stakeholders is essential to guide the next steps for gNBS in public health programs.
methodsA Dutch stakeholder workshop on gNBS was organized and attended by 56 participants from different fields, including clinical care, genetics, research, and NBS. The workshop aimed to inform about developments, identify challenges, foster connections, and build a shared vision. Based on the workshop outcomes, recommended next steps were formulated to support policy and practice decision-making for the integration of genomics into NBS.
resultsSix key themes were identified from the workshop data: (1) expansion of the scope of NBS with genomics, (2) clinical aspects, (3) technical and workflow feasibility, (4) data storage and privacy issues, (5) information provision and consent, and (6) stakeholder roles and responsibilities. Participants highlighted challenges for gNBS, including reaching consensus on scope definition, systematic gene selection, standards for variant reporting, the large data volume, the complexity of information provision, and the current representation of stakeholders in NBS.
conclusionThe recommended next steps, derived from stakeholders' perceived challenges and considerations, reflect the complex and interconnected nature of integrating genomics into NBS, emphasizing the importance of alignment and coordination across disciplines. Translating these recommendations into public health NBS practice requires strong stakeholder engagement and enhanced multidisciplinary collaboration.
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Registered trials
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