ReviewCold Spring Harbor perspectives in medicine2015
Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening.
Review in Cold Spring Harbor perspectives in medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis 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
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.BMC pediatrics · 2021Pooled it
- Trial
- Newborn Sequencing in Genomic Medicine and Public Health.Pediatrics · 2017Trial
- Missing … presumed well? Legal and ethical aspects of 'missed cases' in genomic newborn screening.European journal of human genetics : EJHG · 2026Article
- Three ethical approaches to expanding newborn screening through genomics: a critical comparative analysis.BMC medical ethics · 2025Article
- Misattributed paternity discovery: A critique of medical organizations' recommendations.American journal of human genetics · 2025Review
- Age-Based Genomic Screening: Pediatric Providers' Perspectives on Implementation.Public health genomics · 2025Article
- A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.American journal of human genetics · 2024Article
- Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation.International journal of neonatal screening · 2023Article
- Perspectives of Rare Disease Experts on Newborn Genome Sequencing.JAMA network open · 2023Article
- Exome/Genome Sequencing in Undiagnosed Syndromes.Annual review of medicine · 2023Review
- Insights into National Laboratory Newborn Screening and Future Prospects.Medicina (Kaunas, Lithuania) · 2022Review
- Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study.Frontiers in genetics · 2022Article
- Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population.Frontiers in genetics · 2022Article
- Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support.Maternal and child health journal · 2020Article
- Recent advances in the genetics of preterm birth.Annals of human genetics · 2020Review
- Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping.NPJ genomic medicine · 2020Article
- Article
- An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.The Journal of pediatrics · 2019Article
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 1 institution in 1 country.
Funding
Abstract
Since newborn screening (NBS) began in the 1960s, technological advances have enabled its expansion to include an increasing number of disorders. Recent developments now make it possible to sequence an infant's genome relatively quickly and economically. Clinical application of whole-exome and whole-genome sequencing is expanding at a rapid pace but presents many challenges. Its utility in NBS has yet to be demonstrated and its application in the pediatric population requires examination, not only for potential clinical benefits, but also for the unique ethical challenges it presents.
Indexed as
Identifiers
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.