SynthesisEuropean journal of human genetics : EJHG2022
Parents' understanding of genome and exome sequencing for pediatric health conditions: a systematic review.
Synthesis in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 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
- Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.Frontiers in genetics · 2026Article
- Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services.Orphanet journal of rare diseases · 2025Article
- Transforming NICU care: rapid WES and transcriptomics-validation, social impact, and cost analysis.European journal of pediatrics · 2025Article
- Advancing precision care in pregnancy through a treatable fetal findings list.American journal of human genetics · 2025Review
- Parents' perceptions of the utility of genetic testing in the NICU.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- How Neonatologists Use Genetic Information.The Journal of pediatrics · 2025Article
- Narrative review on ethical and psychological issues raised by genetic and genomic testing in pediatric oncology care.Journal of genetic counseling · 2025Review
- Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis.Frontiers in genetics · 2024Article
- Frequency and reasons that parents decline genetic testing for critically ill neonates.Genetics in medicine open · 2024Article
- 'It's a nightmare': informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland.European journal of human genetics : EJHG · 2023Article
- Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.Cancer medicine · 2023Observational
- What matters to parents? A scoping review of parents' service experiences and needs regarding genetic testing for rare diseases.European journal of human genetics : EJHG · 2023Article
- Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing.Children (Basel, Switzerland) · 2023Article
- 2022: the year that was in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2023Article
- Developing an Educational Visual Tool to Support Families Considering Whole-Exome Sequencing in Japan.Pediatrics international : official journal of the Japan Pediatric SocietyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome and exome sequencing (GS/ES) are increasingly being used in pediatric contexts. We summarize evidence regarding the actual and perceived understanding of GS/ES of parents of a child offered testing for diagnosis and/or management of a symptomatic health condition. We searched four databases (2008-2021) and identified 1264 unique articles, of which 16 met inclusion criteria. We synthesized data from qualitative and quantitative studies and organized results using Ayuso et al. (2013)'s framework of key elements of information for informed consent to GS/ES. Many of the parents represented had prior experience with genetic testing and accessed a form of genetic counseling. Parents' understanding was varied across the domains evaluated. Parents demonstrated understanding of the various potential direct clinical benefits to their child undergoing GS/ES, including in relation to other genetic tests. We found parents had mixed understanding of the nature of potential secondary findings, and of issues related to data privacy, confidentiality, and usage of sequencing results beyond their child's clinical care. Genetic counseling consultations improved understanding. Our synthesis indicates that ES/GS can be challenging for families to understand and underscores the importance of equipping healthcare professionals to explore parents' understanding of ES/GS and the implications of testing for their child.
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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.