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Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Npj genomic medicine, 2018-04, Vol.3 (1), p.10-8, Article 10 [Peer Reviewed Journal]

2018. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2018 ;ISSN: 2056-7944 ;EISSN: 2056-7944 ;DOI: 10.1038/s41525-018-0049-4 ;PMID: 29644095

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  • Title:
    Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
  • Author: Farnaes, Lauge ; Hildreth, Amber ; Sweeney, Nathaly M ; Clark, Michelle M ; Chowdhury, Shimul ; Nahas, Shareef ; Cakici, Julie A ; Benson, Wendy ; Kaplan, Robert H ; Kronick, Richard ; Bainbridge, Matthew N ; Friedman, Jennifer ; Gold, Jeffrey J ; Ding, Yan ; Veeraraghavan, Narayanan ; Dimmock, David ; Kingsmore, Stephen F
  • Subjects: Cost control ; Genetic disorders ; Genomes ; Morbidity
  • Is Part Of: Npj genomic medicine, 2018-04, Vol.3 (1), p.10-8, Article 10
  • Description: Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-genome sequencing (rWGS) can diagnose genetic disorders in time to change acute medical or surgical management (clinical utility) and improve outcomes in acutely ill infants. We report a retrospective cohort study of acutely ill inpatient infants in a regional children's hospital from July 2016-March 2017. Forty-two families received rWGS for etiologic diagnosis of genetic disorders. Probands also received standard genetic testing as clinically indicated. Primary end-points were rate of diagnosis, clinical utility, and healthcare utilization. The latter was modelled in six infants by comparing actual utilization with matched historical controls and/or counterfactual utilization had rWGS been performed at different time points. The diagnostic sensitivity of rWGS was 43% (eighteen of 42 infants) and 10% (four of 42 infants) for standard genetic tests (  = .0005). The rate of clinical utility of rWGS (31%, thirteen of 42 infants) was significantly greater than for standard genetic tests (2%, one of 42;  = .0015). Eleven (26%) infants with diagnostic rWGS avoided morbidity, one had a 43% reduction in likelihood of mortality, and one started palliative care. In six of the eleven infants, the changes in management reduced inpatient cost by $800,000-$2,000,000. These findings replicate a prior study of the clinical utility of rWGS in acutely ill inpatient infants, and demonstrate improved outcomes and net healthcare savings. rWGS merits consideration as a first tier test in this setting.
  • Publisher: England: Nature Publishing Group
  • Language: English
  • Identifier: ISSN: 2056-7944
    EISSN: 2056-7944
    DOI: 10.1038/s41525-018-0049-4
    PMID: 29644095
  • Source: Directory of Open Access Journals (DOAJ)
    PubMed (Medline)
    AUTh Library subscriptions: ProQuest Central
    ROAD: Directory of Open Access Scholarly Resources
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