ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Using the Delphi method to identify clinicians' perceived importance of pediatric exome sequencing results.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
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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
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants: A Systematic Review.JAMA network open · 2022Pooled it
- Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death.Clinical genetics · 2026Article
- Local context review by single institutional review boards: Results from a modified Delphi process.Journal of clinical and translational science · 2025Article
- Determining the utility of diagnostic genomics: a conceptual framework.Human genomics · 2023Review
- Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.Pediatrics · 2023Article
- Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development.The patient · 2022Review
- What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?Annual review of medicine · 2022Review
- A mixed-methods protocol to develop and validate a stewardship maturity matrix for human genomic data in the cloud.Frontiers in genetics · 2022Article
- Conceptualization of utility in translational clinical genomics research.American journal of human genetics · 2021Review
- Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.JAMA network open · 2020Article
- Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Commentary on the development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.NPJ genomic medicine · 2020Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
purposeInformation obtained from clinical exome sequencing (ES) may impact clinical care or other aspects of a patient's life. Little is known about clinicians' perceptions regarding either the value of ES results or which among various outcomes are most relevant to determine value. This study aims to assess clinicians' opinions of the importance of ES results for medical decision making and identify a set of outcomes to be measured in future ES evaluations.
methodsExpert opinion regarding the value of remarkable (diagnostic/positive) and unremarkable (nondiagnostic/negative) ES results was elicited via the Delphi method, consisting of two survey rounds and a teleconference. Participants had expertise in caring for clinically diverse infants and children with suspected underlying genetic etiologies. Descriptive statistics and (dis)agreement were calculated for each survey item.
resultsRemarkable ES results were considered important for 17 outcome domains. Unremarkable ES results were also perceived as important in terms of psychological impact and ability to inform follow-up diagnostic test decisions.
conclusionClinicians regard remarkable ES results as more important in many ways than findings from other diagnostic modalities. Unremarkable ES results were not considered unimportant for decision making, but rather uncertain in most outcome domains.
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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.