Cited by 154Genomics and Rare DiseasesMetabolism and Genetic DisordersConnective tissue disorders research

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Rapid whole genome sequencing has clinical utility in children in the PICU

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Sanford, Erica F., Clark, Michelle M., Farnaes, Lauge, Williams, Matthew R., Perry, James C., Ingulli, Elizabeth G., Sweeney, Nathaly M., Doshi, Ami, Gold, Jeffrey J., Briggs, Benjamin, Bainbridge, Matthew N., Feddock, Michele, Watkins, Kelly, Chowdhury, Shimul, Nahas, Shareef A., Dimmock, David P., Kingsmore, Stephen F., Coufal, Nicole G.·2019·Pediatric Critical Care Medicine

DOI 10.1097/pcc.0000000000002056PMC PMC6832787

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Abstract

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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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: Clark, Michelle M.
Farnaes, Lauge
Williams, Matthew R.
Perry, James C.
Ingulli, Elizabeth G.
Sweeney, Nathaly M.
Gold, Jeffrey J.
Briggs, Benjamin
Bainbridge, Matthew N.
Watkins, Kelly
Chowdhury, Shimul
Nahas, Shareef A.
Dimmock, David P.
Kingsmore, Stephen F.
Coufal, Nicole G.
Venue: Pediatric Critical Care Medicine
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2019-11
Volume: 20
Issue: 11
Pages: 1007-1020
ISSN: 1529-7535 (ISSN-L)
DOI: 10.1097/pcc.0000000000002056
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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Rapid whole genome sequencing has clinical utility in children in the PICU

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