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. 2025 Jun;27(6):101403.
doi: 10.1016/j.gim.2025.101403. Epub 2025 Mar 7.

Long-term follow-up of children who received rapid genomic sequencing

Erica Sanford Kobayashi  1 , Laura E Tobin  2 , Madison Arenchild  2 , Wendy Benson  2 , Nicole G Coufal  3 , Edwin F Juarez  2 , Stephen F Kingsmore  2 , Jason Knight  4 , Jerica Lenberg  2 , Adam Schwarz  4 , Ofelia Vargas-Shiraishi  4 , Kristen Wigby  3 , Matthew Bainbridge  2
Affiliations

Long-term follow-up of children who received rapid genomic sequencing

Erica Sanford Kobayashi et al. Genet Med. 2025 Jun.

Abstract

Purpose: To explore long-term trajectories of children who received rapid genome sequencing (RGS) in intensive care settings.

Methods: We examined the electronic health records of 67 critically ill pediatric patients who received RGS 6 to 8 years ago with a collective initial diagnostic yield of 46%.

Results: The median length of follow-up was 6.2 years (interquartile range 4.0-7.2 years). RGS-diagnosed patients had a longer average follow-up time compared with undiagnosed patients (5.9 years vs 4.8 years, P = .026) and more subspecialty appointments per follow-up year (9.4 vs 6.9, P = .036). Mortality during the follow-up period was 9%. Patients averaged 2.1 hospital readmissions per follow-up year and 28.1 hospitalized days per follow-up year. Forty-four patients (66%) had a documented new phenotype in the electronic health records during their follow-up period. Seven patients received clinician-driven reanalysis during the follow-up period, yielding 1 new diagnosis. Systematic reanalysis of RGS performed as part of this study identified 4 new candidate diagnoses.

Conclusion: Pediatric patients who receive RGS during intensive care unit hospitalizations continue to be high health care utilizers in subsequent years, regardless of whether RGS identified a diagnosis. Additionally, two-thirds of this cohort had a documented phenotypic change over the follow-up period, indicating dynamic clinical evolution in the years after RGS.

Keywords: Genomic sequencing; Rapid genome sequencing.

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Conflict of interest statement

Conflict of Interest Matthew Bainbridge is the founder of Codified Genomics, LLC. All remaining authors declare no conflicts of interest.

References

    1. Saunders CJ, Miller NA, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 2012;4(154):154ra135. doi: 10.1126/scitranslmed.3004041 - DOI - PMC - PubMed
    1. Willig LK, Petrikin JE, Smith LD, et al. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. Lancet Respir Med. 2015;3(5):377–387. doi: 10.1016/S2213-2600(15)00139-3 - DOI - PMC - PubMed
    1. Owen MJ, Lefebvre S, Hansen C, et al. An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases. Nat Commun. 2022;13(1):4057. Published 2022 Jul 26. doi: 10.1038/s41467-022-31446-6 - DOI - PMC - PubMed
    1. Sanford EF, Clark MM, Farnaes L, et al. Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU. Pediatr Crit Care Med. 2019;20(11):1007–1020. doi: 10.1097/PCC.0000000000002056 - DOI - PMC - PubMed
    1. Clark MM, Hildreth A, Batalov S, et al. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation. Sci Transl Med. 2019;11(489):eaat6177. doi: 10.1126/scitranslmed.aat6177 - DOI - PMC - PubMed

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