Duncan NRI Faculty and Staff Publications
Language
English
Publication Date
10-1-2023
Journal
Genetics in Medicine
DOI
10.1016/j.gim.2023.100916
PMID
37334785
PubMedCentral® Posted Date
10-1-2025
PubMedCentral® Full Text Version
Post-print
Abstract
Purpose: Genome sequencing (GS) may shorten the diagnostic odyssey for patients, but clinical experience with this assay in nonresearch settings remains limited. Texas Children's Hospital began offering GS as a clinical test to admitted patients in 2020, providing an opportunity to study GS utilization, possibilities for test optimization, and testing outcomes.
Methods: We retrospectively reviewed GS orders for admitted patients for a nearly 3-year period from March 2020 through December 2022. We gathered anonymized clinical data from the electronic health record to answer the study questions.
Results: The diagnostic yield over 97 admitted patients was 35%. The majority of GS clinical indications were neurologic or metabolic (61%) and most patients were in intensive care (58%). Tests were often characterized as candidates for intervention/improvement (56%), frequently because of redundancy with prior testing. Patients receiving GS without prior exome sequencing (ES) had higher diagnostic rates (45%) than the cohort as a whole. In 2 cases, GS revealed a molecular diagnosis that is unlikely to be detected by ES.
Conclusion: The performance of GS in clinical settings likely justifies its use as a first-line diagnostic test, but the incremental benefit for patients with prior ES may be limited.
Keywords
Humans, Child, Retrospective Studies, Exome Sequencing, Genetic Testing, Chromosome Mapping, Hospitals, Clinical testing, Diagnosis, Genome, Medical genetics, NGS
Published Open-Access
yes
Recommended Citation
Kumar, Runjun D; Saba, Lisa F; Streff, Haley; et al., "Clinical Genome Sequencing: Three Years’ Experience at a Tertiary Children’s Hospital" (2023). Duncan NRI Faculty and Staff Publications. 168.
https://digitalcommons.library.tmc.edu/duncar_nri_pub/168
Included in
Genetic Phenomena Commons, Medical Genetics Commons, Neurology Commons, Neurosciences Commons