ArticleGenome medicine2021
Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making.
Article in Genome medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Principles of Genomic Newborn Screening Programs: A Systematic Review.JAMA network open · 2021Pooled it
- 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
- Article
- Direct-to-Consumer Genetic Testing.NEJM evidence · 2025Review
- Data-driven consideration of genetic disorders for global genomic newborn screening programs.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.Clinical and experimental otorhinolaryngology · 2025Article
- Promises and challenges of genomic newborn screening (NBS) - lessons from public health NBS programs.Pediatric research · 2025Review
- 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
- Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023Review
- Parental Preferences for Expanded Newborn Screening: What Are the Limits?Children (Basel, Switzerland) · 2023Article
- Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.American journal of human genetics · 2023Article
- Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation.International journal of neonatal screening · 2023Article
- Article
- Perspectives of Rare Disease Experts on Newborn Genome Sequencing.JAMA network open · 2023Article
- A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.American journal of human genetics · 2022Review
- Establishing the Medical Actionability of Genomic Variants.Annual review of genomics and human genetics · 2022Review
- The Progress and Future of US Newborn Screening.International journal of neonatal screening · 2022Review
- Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?Prenatal diagnosis · 2022Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
backgroundNewborn screening aims to identify individual patients who could benefit from early management, treatment, and/or surveillance practices. As sequencing technologies have progressed and we move into the era of precision medicine, genomic sequencing has been introduced to this area with the hopes of detecting variants related to a vastly expanded number of conditions. Though implementation of genomic sequencing for newborn screening in public health and clinical settings is limited, commercial laboratories have begun to offer genomic screening panels for neonates.
methodsWe examined genes listed on four commercial laboratory genomic screening panels for neonates and assessed their clinical actionability using an established age-based semi-quantitative metric to categorize them. We identified genes that were included on multiple panels or distinct between panels.
resultsThree hundred and nine genes appeared on one or more commercial panels: 74 (23.9%) genes were included in all four commercial panels, 45 (14.6%) were on only three panels, 76 (24.6%) were on only two panels, and 114 (36.9%) genes were listed on only one of the four panels. Eighty-two genes (26.5%) listed on one or more panels were assessed by our method to be inappropriate for newborn screening and to require additional parental decision-making. Conversely, 249 genes that we previously identified as being highly actionable were not listed on any of the four commercial laboratory genomic screening panels.
conclusionsCommercial neonatal genomic screening panels have heterogeneous content and may contain some conditions with lower actionability than would be expected for public health newborn screening; conversely, some conditions with higher actionability may be omitted from these panels. The lack of transparency about how conditions are selected suggests a need for greater detail about panel content in order for parents to make informed decisions. The nuanced activity of gene list selection for genomic screening should be iteratively refined with evidence-based approaches to provide maximal benefit and minimal harm to newborns.
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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.