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Genetic disorders are one of the leading causes of infant mortality and are highly represented in neonatal intensive care units (NICUs). Current diagnosis of most genetic diseases in NICUs is not sufficiently timely to guide acute clinical management. The BC Women’s Hospital NICU cares for approximately 1,200 premature or ill infants annually and the average length of stay for patients suspected of a genetic disorder is 33.9 days with an associated average cost of $142,057/baby.

This project aims to introduce the use of rapid exome sequencing in the NICU, a technique for sequencing the protein-coding genes in a genome (known as the exome). Partnered with the Provincial Health Services Authority (PHSA), this pilot will include exome sequencing of 25 trios (baby plus both parents). Initial results will be provided from the partner laboratory at the University of British Columbia within five to seven days, allowing for faster clinical management, including genetic evaluation and counselling. Currently, rapid exome sequencing is not routinely available in B.C., despite the fact that equipment and expertise exist within BC. The pilot project will help establish and validate a rapid exome sequencing pilot platform for critically ill babies in the NICU with suspected genetic disorders, and demonstrate the clinical and economic feasibility of using exome sequencing as a first-tier clinical test for these patients.