ArticleGenetics research2015
Challenges of using next generation sequencing in newborn screening.
Article in Genetics research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.BMC pediatrics · 2021Pooled it
- A qualitative study exploring young adult's attitudes towards adopting whole genome sequencing into newborn screening programs.European journal of human genetics : EJHG · 2026Article
- Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.Pediatric investigation · 2026Review
- Multiplexable, High-Throughput DNA-Based Technologies in Screening and Confirmatory Testing of Newborn Conditions: A Scoping Review.International journal of neonatal screening · 2025Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Article
- An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease.Frontiers in neurology · 2023Article
- Newborn screening for genetic disorders: Current status and prospects for the future.Pediatric investigation · 2022Review
- Insights into National Laboratory Newborn Screening and Future Prospects.Medicina (Kaunas, Lithuania) · 2022Review
- Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns.International journal of neonatal screening · 2021Review
- Ethical Issues Surrounding Newborn Screening.International journal of neonatal screening · 2021Article
- Next-Generation Sequencing in Newborn Screening: A Review of Current State.Frontiers in genetics · 2021Review
- Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service.International journal of neonatal screening · 2019Article
- Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment.World journal of pediatrics : WJP · 2017Review
- Genomic newborn screening: public health policy considerations and recommendations.BMC medical genomics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Whole-genome and whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. The term newborn screening refers to public health programs designed to screen newborns for various treatable metabolic conditions, by measuring levels of circulating blood metabolites. The availability and significant decrease in sequencing costs has raised the question of whether metabolic newborn screening should be replaced by whole-genome or whole-exome sequencing. While newborn genome sequencing can potentially increase the number of disorders identified by newborn screening, the generalization of its practice raises a number of important ethical issues. This short article argues that there are medical, psychological, ethical and economic reasons why widespread dissemination of newborn screening is still premature.
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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.