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Rapid whole genome sequencing has clinical utility in children in the PICU
Open accessAbstract
Objectives: Genetic disorders are a leading contributor to mortality in the neonatal ICU and PICU in the United States. Although individually rare, there are over 6,200 single-gene diseases, which may preclude a genetic diagnosis prior to ICU admission. Rapid whole genome sequencing is an emerging method of diagnosing genetic conditions in time to affect ICU management of neonates; however, its clinical utility has yet to be adequately demonstrated in critically ill children. This study evaluates next-generation sequencing in pediatric critical care. Design: Retrospective cohort study. Setting: Single-center PICU in a tertiary children’s hospital. Patients: Children 4 months to 18 years admitted to the PICU who were nominated between July 2016 and May 2018. Interventions: Rapid whole genome sequencing with targeted phenotype-driven analysis was performed on patients and their parents, when parental samples were available. Measurements and Main Results: A molecular diagnosis was made by rapid whole genome sequencing in 17 of 38 children (45%). In four of the 17 patients (24%), the genetic diagnoses led to a change in management while in the PICU, including genome-informed changes in pharmacotherapy and transition to palliative care. Nine of the 17 diagnosed children (53%) had no dysmorphic features or developmental delay. Eighty-two percent of diagnoses affected the clinical management of the patient and/or family after PICU discharge, including avoidance of biopsy, administration of factor replacement, and surveillance for disorder-related sequelae. Conclusions: This study demonstrates a retrospective evaluation for undiagnosed genetic disease in the PICU and clinical utility of rapid whole genome sequencing in a portion of critically ill children. Further studies are needed to identify PICU patients who will benefit from rapid whole genome sequencing early in PICU admission when the underlying etiology is unclear.
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“reflecting the clinical utility of rapid WGS in decreasing infant morbidity.”
From Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review (2023) · cites this paper as [15]
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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
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Self-citationClinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Lee, H., Deignan, J. L., Dorrani, N., Strom, S. P., Kantarci, S., Quintero‐Rivera, F., Das, K., Toy, T. L., Harry, B., Yourshaw, M., et al. (2014) · JAMA · doi:10.1001/jama.2014.14604 · Cited by 991
Mortality in the United States
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Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
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Self-citationThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
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Self-citationLionel, A. C., Costain, G., Monfared, N., Walker, S., Reuter, M. S., Hosseini, S. M., Thiruvahindrapuram, B., Merico, D., Jobling, R., Nalpathamkalam, T., et al. (2018) · Genetics in Medicine · doi:10.1038/gim.2017.119 · Cited by 557
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Kingsmore, S. F., Cakici, J. A., Clark, M. M., Gaughran, M., Feddock, M., Batalov, S., Bainbridge, M. N., Carroll, J. M., Caylor, S. A., Clarke, C., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.08.009 · Cited by 354
Self-citationDimmock, D., Caylor, S. A., Waldman, B. M., Benson, W., Ashburner, C., Carmichael, J., Carroll, J. M., Cham, E. M., Chowdhury, S., Cleary, J. P., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.05.008 · Cited by 259
Self-citationAustralian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA · doi:10.1001/jama.2020.7671 · Cited by 239
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Self-citationKingsmore, S. F., Smith, L. D., Kunard, C. M., Bainbridge, M., Batalov, S., Benson, W., Blincow, E., Caylor, S. A., Chambers, C., del Angel, G., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.08.003 · Cited by 178
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Metadata
- Authors
- Sanford, E. F., Clark, M. M., Farnaes, L., Williams, M. R., Perry, J. C., Ingulli, E. G., Sweeney, N. M., Doshi, A., Gold, J. J., Briggs, B., Bainbridge, M. N., Feddock, M., Watkins, K., Chowdhury, S., Nahas, S. A., Dimmock, D. P., Kingsmore, S. F., & Coufal, N. G.
- Affiliations
- Department of Pediatrics, University of California at San Diego, La Jolla, CA.
- Rady Children's Institute for Genomic Medicine (US)
- University of California San Diego (US)
- Rady Children's Hospital-San Diego (US)
- ORCID
- Venue
- Pediatric Critical Care Medicine
- Published
- 2019-11
- Volume
- 20
- Issue
- 11
- Pages
- 1007-1020
- ISSN
- 1529-7535 (ISSN-L)
- PMC
- PMC6832787
- OpenAlex
- W2956112893
- Cited by
- 150
- References
- 44
- Citations by year
- 2026: 16 · 2025: 14 · 2024: 24 · 2023: 22 · 2022: 34 · 2021: 19 · 2020: 17 · 2019: 2
- FWCI
- 10.85
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Pediatric Critical Care Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U19HD077693)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- rapid whole genome sequencing, pediatric intensive care unit, critically ill children, genetic diagnosis, monogenic disorders, molecular diagnosis, pharmacogenomics, palliative care, factor substitution, clinical utility
- MeSH terms
- Whole Genome Sequencing, Adolescent, Child, Child, Preschool, Female, Humans, Infant, Male, Retrospective Studies, Intensive Care Units, Pediatric, Critical Illness, Genetic Diseases, Inborn, Precision Medicine
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