ArticleNature medicine2025
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.
Article in Nature medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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
19 citing papers in PubMed.
- Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience.Journal of human immunity · 2026Article
- Role of the Gut-Liver-Kidney Axis in Disease Manifestation and Biomarker Alterations.International journal of molecular sciences · 2026Review
- Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children.Children (Basel, Switzerland) · 2026Review
- Population-based genomic detection of childhood cancer predisposition using newborn dried blood spots.Nature communications · 2026Article
- Inborn Errors of Immunity Genotype: A Retrospective Study from the United Arab Emirates.Journal of clinical immunology · 2026Article
- Optimizing Informed Consent for Australian Newborn Bloodspot Screening and Research: Consensus Workshop Insights and Recommendations.International journal of neonatal screening · 2026Article
- Article
- To screen or not to screen G6PD deficiency in gNBS: insights from the BabyDetect pilot and current evidence.European journal of human genetics : EJHG · 2026Article
- Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort.Children (Basel, Switzerland) · 2026Article
- Scaling up genomic newborn screening: implementation lessons from the BabyScreen+ study.European journal of human genetics : EJHG · 2026Article
- Perspectives on genomic newborn screening studies: design, implementation, and outcomes.Pediatric research · 2026Review
- Pediatric Genomic Medicine-rapid progress, but not too fast: American Pediatric Society's 2026 John Howland Award Lecture.Pediatric research · 2026Article
- Genomic newborn screening: a scoping review of the field's evolution and associated ethical, legal, and social implications.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
- Review
- From targeted to genome-wide DNA testing in public health screening programs-an introduction to the special issue of the European Journal of Human Genetics.European journal of human genetics : EJHG · 2026Article
- Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study.European journal of human genetics : EJHG · 2026Article
- Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.NPJ genomic medicine · 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
36 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Incorporating genomic sequencing into newborn screening will dramatically increase the number of detectable conditions but evidence is needed to guide policy. The prospective BabyScreen+ cohort study screened 1,000 newborns from the state of Victoria, Australia for variants in 605 genes associated with early-onset, severe, treatable conditions using whole-genome sequencing performed on dried blood spot cards. Sixteen infants (1.6%) were identified as having high-chance results. Of these, only one was detected by standard newborn screening. Average time to genomic newborn result was 13 days. Clinical impact ranged from instituting preventative measures or surveillance to active management, including transplantation. Twenty relatives received a diagnosis following cascade testing. Median parental decisional regret was low (median 0, interquartile range 0-10); >99% of participants thought genomic newborn screening should be available to all parents. Our study demonstrates the feasibility of clinically accredited genomic newborn screening, using a scalable model that is highly acceptable to parents. Future research is needed to address issues of scalability and equity.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.