ArticleEuropean journal of human genetics : EJHG2025
Genomic sequencing in newborn screening: balancing consent with the right of the asymptomatic at-risk child to be found.
Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Considering seriousness in preconception carrier screening: a framework to support policy deliberation.Journal of community genetics · 2026Review
- Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening.European journal of human genetics : EJHG · 2026Article
- Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies.NPJ genomic medicine · 2026Article
- A thick opt-out for genomic newborn screening, retention, and reuse of genomic data.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
- Missing … presumed well? Legal and ethical aspects of 'missed cases' in genomic newborn screening.European journal of human genetics : EJHG · 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
- Genomic newborn screening: data retention for research and clinical reuse.European journal of human genetics : EJHG · 2026Article
- Parental Views on the Psychosocial Impact of False-Positive Results Following Newborn Screening for Severe Combined Immunodeficiency in England.International journal of neonatal screening · 2026Article
- Navigating ethical, legal and social implications in genomic newborn screening.Nature reviews. Genetics · 2026Article
- Genomic Newborn Screening: Verdict From an Australian Citizens' Jury.The Medical journal of Australia · 2026Article
- Data-Related and Methodological Challenges in Assessing the Cost-Effectiveness of Traditional and Genomic Newborn Screening Programs.Applied health economics and health policy · 2026Review
- Embedding ethics into Genomics England's Generation Study.BMJ open · 2026Review
- Imagining Genomics and Population Health in 2050: Anticipating Future Research, Policy, and Governance Needs.Public health genomics · 2026Article
- Three ethical approaches to expanding newborn screening through genomics: a critical comparative analysis.BMC medical ethics · 2025Article
- Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation.European journal of human genetics : EJHG · 2025Review
- Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.Nature medicine · 2025Article
- Informed Consent for Newborn Genomic Screening: Interest-Holder Perspectives on Dynamic Consent in an Evolving Landscape.International journal of neonatal screening · 2025Article
- Ethical and Psychosocial Issues Associated with Genetic Testing for Hereditary Tumor Predisposition Syndromes.Healthcare (Basel, Switzerland) · 2025Review
- Editorial: severity in a genomic age.European journal of human genetics : EJHG · 2025Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this paper, we explore key aspects of the complex ethical and legal landscape surrounding consent in the context of incorporating genomic sequencing into existing newborn bloodspot screening programs. In particular, we consider the potential impact of genomic sequencing on the health rights of the child in relation to existing consent practices in newborn screening. We begin with an introduction to newborn screening programs and their population health goals. We then discuss public health ethics as a rationale underpinning newborn screening before turning to consent. We go on to describe seven current research projects on genomic sequencing in newborn screening and then introduce the 'right of the asymptomatic at-risk child to be found' as a useful concept to draw on when considering consent to newborn screening. We draw on this novel right to argue for the adoption of "appropriate consent" when it comes to certain uses of genomics in newborn screening. We contend that, for 'virtual panels' at least, appropriate consent proportionately balances the ongoing universality of newborn screening for important health conditions with an acknowledgement of the complex outcomes that bringing a complicated diagnostic technology into the screening domain will generate.
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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.