ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Clinical genome sequencing in an unbiased pediatric cohort.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Pooled it
- Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Trial
- Next-Generation Whole-Exome Pattern: Advanced Methods and Clinical Significance.Current gene therapy · 2026Review
- Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis SyndromeAustralasian journal of ultrasound in medicine · 2025Article
- Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).Molecular genetics & genomic medicine · 2024Article
- Novel Pathogenic Variants inHuman mutation · 2024Article
- Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.International journal of molecular sciences · 2023Article
- Test development, optimization and validation of a WGS pipeline for genetic disorders.BMC medical genomics · 2023Article
- Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.Frontiers in neurology · 2023Article
- A holistic approach to maximise diagnostic output in trio exome sequencing.Frontiers in pediatrics · 2023Article
- 2022: a pivotal year for diagnosis and treatment of rare genetic diseases.Cold Spring Harbor molecular case studies · 2022Article
- De NovoInternational journal of molecular sciences · 2022Article
- Diagnostic yield of genetic testing in 324 infants with hypotonia.Clinical genetics · 2021Article
- Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.Audiology research · 2021Article
- In silico tools for accurate HLA and KIR inference from clinical sequencing data empower immunogenetics on individual-patient and population scales.Briefings in bioinformatics · 2021Article
- Focused Revision: ACMG practice resource: Genetic evaluation of short stature.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.BMC medical genomics · 2021Article
- Paroxysmal Movement Disorders.Frontiers in neurology · 2021Review
- CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.Genome medicine · 2020Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe report for the first time, the use of clinical genome sequencing (GS) in an unbiased pediatric cohort. We describe the clinical validation, patient metrics, ordering patterns, results, reimbursement, and physician retrieval of results for the first consecutive 80 cases.
methodsClinical GS was performed for both inpatients and outpatients undergoing etiologic evaluations. Results were reported in the electronic medical record. Evidence of report retrieval by clinicians and whether interpretation was concordant with laboratory report was obtained through retrospective chart review.
resultsTwenty definitive diagnoses were made in 19 patients (24%; n = 80). Except for two partial gene deletions, all diagnostic variants would have been detectable by our exome methods. Surprisingly, there was no documentation of communication of results to the family in the medical record for 17.5% of patients, and in 7.5%, physician and laboratory interpretations were discordant. Average insurance reimbursement was 30.2%, with yield for commercial payers significantly higher, at 54.1%.
conclusionsThe detection rate of GS is equivalent and potentially superior to exome sequencing (ES). Reimbursement rates were variable but overall satisfactory for commercial insurers, and poor for government entities. In addition, we identify opportunities for improvement in the communication of results to families, likely translatable to other tests and other institutions.
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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.