ReviewNature reviews. Genetics2023
Genomic newborn screening for rare diseases.
Review in Nature reviews. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 135 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
135 citing papers in PubMed, 2 syntheses or guidelines pooled it, 191 citations in OpenAlex.
- Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.Orphanet journal of rare diseases · 2026Pooled it
- Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review.Frontiers in psychology · 2025Pooled it
- Transforming our future by unlocking the power of DNA: the representation of health-related genomic testing in UK news items.European journal of human genetics : EJHG · 2026Article
- Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD.European journal of human genetics : EJHG · 2026Article
- Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result.International journal of neonatal screening · 2026Article
- Progress and Prospects of Newborn Screening in China.International journal of neonatal screening · 2026Review
- Diagnosis Through Whole Genome Sequencing and Care Utilization in Children With Severe Illness.JAMA network open · 2026Observational
- Application of CLIR-Based Post-Analytical Tools to Dutch NBS Data Demonstrates Its Potential Impact on the Performance of CPT1, GA-1, IVA and MSUD Screening in a Disorder-Specific Way.International journal of neonatal screening · 2026Article
- Reducing the diagnostic odyssey in rare disease: why screening is not the only answer.Nature medicine · 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
- Parental and public views on genomic newborn screening: a systematic review.European journal of human genetics : EJHG · 2026Review
- Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals.European journal of human genetics : EJHG · 2026Article
- A qualitative study exploring young adult's attitudes towards adopting whole genome sequencing into newborn screening programs.European journal of human genetics : EJHG · 2026Article
- Near-perfect genome sequencing in medical genetics.Nature genetics · 2026Review
- How parents decide whether to have genomic newborn screening: experiences from BabyScreen.European journal of human genetics : EJHG · 2026Article
- Implementation of a medical genomics program for rare diseases in Uruguay.Orphanet journal of rare diseases · 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
- Quality and consistency of genetic newborn screening reports in China: insights from a multi-laboratory analysis using simulated samples.BMC pediatrics · 2026Article
75 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare diseases are a leading cause of infant mortality and lifelong disability. To improve outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has transformed the traditional diagnostic process, providing rapid, accurate and cost-effective genetic diagnoses to many. Incorporating genomic sequencing into newborn screening programmes at the population scale holds the promise of substantially expanding the early detection of treatable rare diseases, with stored genomic data potentially benefitting health over a lifetime and supporting further research. As several large-scale newborn genomic screening projects launch internationally, we review the challenges and opportunities presented, particularly the need to generate evidence of benefit and to address the ethical, legal and psychosocial issues that genomic newborn screening raises.
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What OpenQuestion holds
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.