ArticleHuman genomics2024
Australian public perspectives on genomic newborn screening: which conditions should be included?
Article in Human genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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
11 citing papers in PubMed.
- Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing.European journal of human genetics : EJHG · 2026Article
- Genomic Newborn Screening: Verdict From an Australian Citizens' Jury.The Medical journal of Australia · 2026Article
- A Survey of Current Australasian Practices in the Use of Residual Bloodspots for the Addition of a New Disorder to the Screening Panel.International journal of neonatal screening · 2026Article
- Public and parent perspectives on genomic sequencing in newborn screening: a scoping review.European journal of human genetics : EJHG · 2026Review
- 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
- A population-representative survey on attitudes toward genomic newborn screening in Germany.Genetics in medicine open · 2026Article
- Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.Nature medicine · 2025Article
- The Intersection Between Genetic Reproductive Carrier Screening and Genomic Newborn Screening: Implications for Clinical Practice.Prenatal diagnosis · 2025Article
- Genomic Screening Consortium for Australian Newborns (GenSCAN).Journal of paediatrics and child health · 2025Review
- Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia.American journal of human genetics · 2025Article
- Collaborative coding in inductive content analysis: Why, when, and how to do it.Journal of genetic counseling · 2025Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
backgroundImplementing genomic sequencing into newborn screening programs allows for significant expansion in the number and scope of conditions detected. We sought to explore public preferences and perspectives on which conditions to include in genomic newborn screening (gNBS).
methodsWe recruited English-speaking members of the Australian public over 18 years of age, using social media, and invited them to participate in online focus groups.
resultsSeventy-five members of the public aged 23-72 participated in one of fifteen focus groups. Participants agreed that if prioritisation of conditions was necessary, childhood-onset conditions were more important to include than later-onset conditions. Despite the purpose of the focus groups being to elicit public preferences, participants wanted to defer to others, such as health professionals or those with a lived experience of each condition, to make decisions about which conditions to include. Many participants saw benefit in including conditions with no available treatment. Participants agreed that gNBS should be fully publicly funded.
conclusionHow many and which conditions are included in a gNBS program will be a complex decision requiring detailed assessment of benefits and costs alongside public and professional engagement. Our study provides support for implementing gNBS for treatable childhood-onset conditions.
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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.