Journal
EUROPEAN JOURNAL OF PEDIATRICS
Volume 178, Issue 8, Pages 1207-1218Publisher
SPRINGER
DOI: 10.1007/s00431-019-03399-4
Keywords
Genome-wide sequencing (GWS); Exome sequencing (ES); Multi-gene panel; Chromosomal microarray analysis; Health implementation; Medical management; Genetic counselling
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Funding
- User Partnership Program (UPP): Genome British Columbia
- Provincial Health Services Authority (PHSA)
- Canada Excellence Research Chairs program (MJF)
- Province of British Columbia
- LifeLabs
- Genome BC
- Canadian Consortium on Neurodegeneration in Aging
- Pacific Parkinson's Research Institute
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Genetic disorders are one of the leading causes of infant mortality and are frequent in neonatal intensive care units (NICUs). Rapid genome-wide sequencing (GWS; whole genome or exome sequencing (ES)), due to its diagnostic capabilities and immediate impacts on medical management, is becoming an appealing testing option in the NICU setting. RAPIDOMICS was a trio-based rapid ES pilot study of 25 babies with suspected genetic disorders in the BC Women's Hospital NICU. ES and bioinformatic analysis were performed after careful patient ascertainment. Trio analysis was performed using an in-house pipeline reporting variants in known disease-causing genes. Variants interpreted by the research team as definitely or possibly causal of the infant's phenotype were Sanger validated in a clinical laboratory. The average time to preliminary diagnosis was 7.2days. Sanger validation was pursued in 15 patients for 13 autosomal dominant and 2 autosomal recessive disorders, with an overall diagnostic rate (partial or complete) of 60%.Conclusion: In total, 72% of patients enrolled had a genomic diagnosis achieved through ES, multi-gene panel testing or chromosomal microarray analysis. Among these, there was an 83% rate of significant and immediate impact on medical decision-making directly related to new knowledge of the diagnosis. Health service implementation challenges and successes are discussed.
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