ArticleBMJ open2024
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.
Article in BMJ open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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
36 citing papers in PubMed, 42 citations in OpenAlex.
- Role of the Gut-Liver-Kidney Axis in Disease Manifestation and Biomarker Alterations.International journal of molecular sciences · 2026Review
- Scaling up genomic newborn screening: implementation lessons from the BabyScreen+ study.European journal of human genetics : EJHG · 2026Article
- Who and how we engage: A systemic mapping of stakeholder perspectives on genomic newborn screening.European journal of human genetics : EJHG · 2026Article
- Perspectives on genomic newborn screening studies: design, implementation, and outcomes.Pediatric research · 2026Review
- Parental and public views on genomic newborn screening: a systematic review.European journal of human genetics : EJHG · 2026Review
- Australian parents' perspectives on extended genomic screening: what information to return and when?European journal of human genetics : EJHG · 2026Article
- How parents decide whether to have genomic newborn screening: experiences from BabyScreen.European journal of human genetics : EJHG · 2026Article
- Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing.European journal of human genetics : EJHG · 2026Article
- Impact of a digital platform on genetic counselling encounters in the screening context.European journal of human genetics : EJHG · 2026Article
- 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
- Semi-automated genomic newborn screening highlights complexities in reporting.NPJ genomic medicine · 2026Article
- Public and parent perspectives on genomic sequencing in newborn screening: a scoping review.European journal of human genetics : EJHG · 2026Review
- Article
- Impact of data sources and ascertainment methods on reporting paediatric genetic condition prevalence: A scoping review.Health information management : journal of the Health Information Management Association of Australia · 2026Article
- "The ability to get ahead": Australian parent perspectives on genomics in newborn screening and considerations for potential models of care.European journal of human genetics : EJHG · 2025Article
- Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.Nature medicine · 2025Article
- Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review.International journal of neonatal screening · 2025Review
- Article
Corrections and comments
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Authors and funding
28 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionNewborn bloodspot screening (NBS) is a highly successful public health programme that uses biochemical and other assays to screen for severe but treatable childhood-onset conditions. Introducing genomic sequencing into NBS programmes increases the range of detectable conditions but raises practical and ethical issues. Evidence from prospectively ascertained cohorts is required to guide policy and future implementation. This study aims to develop, implement and evaluate a genomic NBS (gNBS) pilot programme. METHODS AND ANALYSIS: The BabyScreen+ study will pilot gNBS in three phases. In the preimplementation phase, study materials, including education resources, decision support and data collection tools, will be designed. Focus groups and key informant interviews will also be undertaken to inform delivery of the study and future gNBS programmes. During the implementation phase, we will prospectively recruit birth parents in Victoria, Australia, to screen 1000 newborns for over 600 severe, treatable, childhood-onset conditions. Clinically accredited whole genome sequencing will be performed following standard NBS using the same sample. High chance results will be returned by genetic healthcare professionals, with follow-on genetic and other confirmatory testing and referral to specialist services as required. The postimplementation phase will evaluate the feasibility of gNBS as the primary aim, and assess ethical, implementation, psychosocial and health economic factors to inform future service delivery. ETHICS AND DISSEMINATION: This project received ethics approval from the Royal Children's Hospital Melbourne Research Ethics Committee: HREC/91500/RCHM-2023, HREC/90929/RCHM-2022 and HREC/91392/RCHM-2022. Findings will be disseminated to policy-makers, and through peer-reviewed journals and conferences.
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Registered trials
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.