ArticleGenetics in medicine : official journal of the American College of Medical Genetics2026
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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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
5 citing papers in PubMed.
- Perspectives on genomic newborn screening studies: design, implementation, and outcomes.Pediatric research · 2026Review
- Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.Metabolomics : Official journal of the Metabolomic Society · 2026Review
- Missing … presumed well? Legal and ethical aspects of 'missed cases' in genomic newborn screening.European journal of human genetics : EJHG · 2026Article
- A Multi-Stakeholder Perspective on Integrating Genomic Sequencing into Newborn Screening: An Interview Study.International journal of neonatal screening · 2026Article
- Key Outcomes from a Stakeholder Workshop on Genomic Newborn Screening: Recommended Next Steps for the Integration of Genomics into Public Health Programs.Public health genomics · 2026Article
Corrections and comments
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Authors and funding
29 authors.
Funding
Abstract
purposeFor decades, the selection of disorders included in newborn screening (NBS) programs has been guided by principles published by Wilson and Jungner in 1968. As research explores the expansion of conditions included in NBS through genomic sequencing, there is a critical need for updated recommendations to address the opportunities and complexities of genomic data.
methodsThe International Consortium on Newborn Sequencing includes leaders from over 16 research projects investigating genomic NBS across the United Kingdom, Europe, United States, and Oceania. Consortium members were invited to participate in a modified Delphi study, aggregating opinion on the selection of conditions for genomic NBS through 3 rounds of online questionnaires, with feedback provided to participants between rounds.
resultsIn round 1, 94 participants completed the questionnaire, and 10 of 43 statements reached consensus. In round 2, 81 participants completed the questionnaire, and 14 of 27 statements reached consensus. In round 3, 68 participants completed the questionnaire, and all 10 statements reached 72% or more consensus.
conclusionThe 10 consensus recommendations developed in this study can guide future research and public health programs performing genomic NBS. This process also identified key areas of participant discordance, highlighting important topics for future research.
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