ArticleNPJ genomic medicine2021
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level.
Article in NPJ genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Benefits and barriers to broad implementation of genomic sequencing in the NICU.American journal of human genetics · 2025Pooled it
- Quality improvement initiative to optimize use of rapid genomic sequencing in a level IV NICU.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Point of Care Testing, Rapid Next Generation Sequencing and Artificial Intelligence in Pediatric and Neonatal Healthcare: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Anxiety and quality-of-life for parents of children with undiagnosed rare conditions: A multi-site quantitative survey study.Journal of genetic counseling · 2025Article
- View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children.European journal of human genetics : EJHG · 2025Article
- Using implementation science to navigate the complexity of integrating genomics into healthcare.Nature medicine · 2025Article
- Optimising the mainstreaming of renal genomics: Complementing empirical and theoretical strategies for implementation.European journal of human genetics : EJHG · 2025Article
- Adopting Public Health Genomics when the House Is on Fire: How Will We Navigate to 2030?Public health genomics · 2025Article
- Becoming agents for genomic change: genetic counsellors' views of patient care and implementation influences when genomics is mainstreamed.European journal of human genetics : EJHG · 2024Article
- The economic costs of precision medicine for clinical translational research among children with high-risk cancer.NPJ precision oncology · 2024Article
- Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.European journal of human genetics : EJHG · 2024Article
- Genomic medicine in neonatal care: progress and challenges.European journal of human genetics : EJHG · 2023Review
- Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units.Journal of perinatology : official journal of the California Perinatal Association · 2023Review
- Integrated multi-omics for rapid rare disease diagnosis on a national scale.Nature medicine · 2023Article
- Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.JAMA network open · 2023Article
- "A very big challenge": a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England.Frontiers in genetics · 2023Article
- Rapid Whole Genome Sequencing for Diagnosis of Single Locus Genetic Diseases in Critically Ill Children.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Precision medicine in Australia: now is the time to get it right.The Medical journal of Australia · 2022Article
- Rapid genome sequencing for pediatrics.Human mutation · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
Abstract
In scaling up an ultra-rapid genomics program, we used implementation science principles to design and investigate influences on implementation and identify strategies required for sustainable "real-world" services. Interviews with key professionals revealed the importance of networks and relationship building, leadership, culture, and the relative advantage afforded by ultra-rapid genomics in the care of critically ill children. Although clinical geneticists focused on intervention characteristics and the fit with patient-centered care, intensivists emphasized the importance of access to knowledge, in particular from clinical geneticists. The relative advantage of ultra-rapid genomics and trust in consistent and transparent delivery were significant in creating engagement at initial implementation, with appropriate resourcing highlighted as important for longer term sustainability of implementation. Our findings demonstrate where common approaches can be used and, significantly, where there is a need to tailor support by professional role and implementation phase, to maximize the potential of ultra-rapid genomic testing to improve patient care.
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.