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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.

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


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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