ArticleMolecular genetics & genomic medicine2018
Clinical whole-exome sequencing results impact medical management.
Article in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 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
32 citing papers in PubMed, 1 synthesis or guideline pooled it.
- How variants of uncertain significance affect clinical decisions: A systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Pooled it
- Clinical Utility of Germline Whole-Exome Sequencing Beyond Multigene Panels in Hereditary Cancer.Genes · 2026Review
- A Multi-Center Study: Developing a Nomogram for Predicting Genetic Results of Trio-Based Whole-Exome Sequencing (Trio-WES) in Diagnosing Children with Syndromic Neurodevelopmental Disorders (s-NDDs).International journal of general medicine · 2026Article
- HRProfiler Detects Homologous Recombination Deficiency in Breast and Ovarian Cancers Using Whole-Genome and Whole-Exome Sequencing Data.Cancer research · 2025Article
- Association of Social Determinants of Health With Genetic Test Request and Completion Rates in Children With Neurologic Disorders.Neurology · 2025Observational
- Predicting the diagnostic efficacy of trio-based whole exome sequencing in children with low-function autism spectrum disorders: a multicenter study.Frontiers in neurology · 2025Article
- Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).Frontiers in neurology · 2025Article
- Report of one case with de novo mutation in TLK2 and literature review.BMC pediatrics · 2024Review
- Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders.Annals of neurology · 2024Review
- Spatial whole exome sequencing reveals the genetic features of highly-aggressive components in lung adenocarcinoma.Neoplasia (New York, N.Y.) · 2024Article
- Improving access to exome sequencing in a medically underserved population through the Texome Project.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Utility of exome sequencing for the diagnosis of pediatric-onset neuromuscular diseases beyond diagnostic yield: a narrative review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Review
- Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).Journal of medical genetics · 2023Article
- Natural history of KBG syndrome in a large European cohort.Human molecular genetics · 2022Article
- Lack of consensus among healthcare professionals at a large academic medical center on the use of exome sequencing for prenatal diagnosis.Journal of genetic counseling · 2022Article
- Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.American journal of medical genetics. Part A · 2022Article
- Five years' experience of the clinical exome sequencing in a Spanish single center.Scientific reports · 2022Article
- Review
- Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.Journal of medical genetics · 2022Article
- Investigation of an inherited PCGF2: p.Pro65Leu mutation causing Turnpenny-Fry syndrome.American journal of translational research · 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
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundClinical diagnostic whole-exome sequencing (WES) is a powerful tool for patients with undiagnosed genetic disorders. To demonstrate the clinical utility, we surveyed healthcare providers (HCP) about changes in medical management and treatment, diagnostic testing, reproductive planning, and use of educational services subsequent to WES testing.
methodsFor a period of 18 months, an 18-question survey was sent to HCPs attached to the WES reports. We analyzed the molecular diagnosis, patient clinical features, and the medical management changes reported in the returned surveys.
resultsA total of 62 (2.2% of 2,876) surveys were returned, consisting of 37.1% patients with a positive or likely positive pathogenic alteration, 51.6% negative results, 9.7% uncertain findings, and 1 patient (1.6%) with a novel candidate finding. Overall, 100% of the HCPs of patients with positive or likely positive WES results (n = 23) and HCPs of patients with uncertain WES results (n = 6) responded positively to one of the 18 queries. Of note, 37.5% of the HCPs of patients with negative WES results (n = 32) responded positively to at least one query.
conclusionOverall, these data clearly demonstrate the clinical utility of WES by demonstrating the impact on medical management irrespective of the exome result.
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.