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NPJ Genom Med. 2018 Apr 4;3:10. doi: 10.1038/s41525-018-0049-4. eCollection 2018.

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

Author information

1
Rady Children's Institute for Genomic Medicine, San Diego, CA USA.
2
2Department of Pediatrics, University of California San Diego, San Diego, CA USA.
3
Torrey Pines Health Group Inc., San Diego, CA USA.
4
4Department of Family Medicine and Public Health, University of California San Diego, San Diego, CA USA.
5
5Department of Neurosciences, University of California San Diego, San Diego, CA USA.
#
Contributed equally

Abstract

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 (P = .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; P = .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.

Conflict of interest statement

Dr Dimmock declares the following potential conflicts of interest: Biomarin (Consultant for Pegvaliase trials) Audentes Therapeutics (Scientific Advisory Board).

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