ArticleClinical genetics2018
Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.
Article in Clinical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 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
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.American journal of human genetics · 2023Trial
- A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.American journal of human genetics · 2020Trial
- Impact of patient education videos on genetic counseling outcomes after exome sequencing.Patient education and counseling · 2020Trial
- Precision medicine and parental experience: a longitudinal study of psychosocial responses to germline genomic results in pediatric oncology.Frontiers in medicine · 2026Article
- The value of large-scale programmes in human genomics.European journal of human genetics : EJHG · 2025Article
- 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
- Pediatric nephrologists' perspectives and clinical practices related to genetic testing and education.Pediatric nephrology (Berlin, Germany) · 2025Article
- Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.Pediatrics · 2024Article
- A content analysis of parents' reflections on pathogenic and uncertain pediatric oncology germline sequencing results.Familial cancer · 2024Article
- Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population.HGG advances · 2024Article
- Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.medRxiv : the preprint server for health sciences · 2024Article
- Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.Neurology. Genetics · 2024Article
- Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project.European journal of human genetics : EJHG · 2023Article
- Parents' Perspectives on Secondary Genetic Ancestry Findings in Pediatric Genomic Medicine.Clinical therapeutics · 2023Article
- 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
- The social value of genomic sequencing for disadvantaged families facing rare disease.Social science & medicine (1982) · 2022Article
- Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies.Prenatal diagnosis · 2022Article
- Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.Journal of community genetics · 2022Article
- Newborn screening for neurodevelopmental diseases: Are we there yet?American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 4 institutions in 1 country.
Funding
Abstract
Clinical exome sequencing (CES) is increasingly being used as an effective diagnostic tool in the field of pediatric genetics. We sought to evaluate the parental experience, understanding and psychological impact of CES by conducting a survey study of English-speaking parents of children who had diagnostic CES. Parents of 192 unique patients participated. The parent's interpretation of the child's result agreed with the clinician's interpretation in 79% of cases, with more frequent discordance when the clinician's interpretation was uncertain. The majority (79%) reported no regret with the decision to have CES. Most (65%) reported complete satisfaction with the genetic counseling experience, and satisfaction was positively associated with years of genetic counselor (GC) experience. The psychological impact of CES was greatest for parents of children with positive results and for parents with anxiety or depression. The results of this study are important for helping clinicians to prepare families for the possible results and variable psychological impact of CES. The frequency of parental misinterpretation of test results indicates the need for additional clarity in the communication of results. Finally, while the majority of patients were satisfied with their genetic counseling, satisfaction was lower for new GCs, suggesting a need for targeted GC training for genomic testing.
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.