Generating solutions

Genetic disorders are a leading cause of major illness and death in infancy. Although precise diagnosis is necessary, access to genome‐wide sequencing is limited in British Columbia. This is a particular problem in the fetal and neonatal period, when making a genetic diagnosis can profoundly influence clinical management and have lifelong consequences.

Long‐read genome sequencing offers the promise of greater diagnostic sensitivity and shorter turn‐around‐time for urgent diagnosis of genetic disease. Over three years, RapidOmics will use rapid long-read sequencing to test 100 patients, either acutely ill infants or pregnant women with a fetus at very high risk of genetic disease, in BC Children’s Hospital or BC Women’s Hospital & Health Centre.

The project will assess the clinical value, limitations, costs and benefits of this type of sequencing as a diagnostic test. If successful, it may lead to establishing a provincially funded clinical reference laboratory for rapid long‐read sequencing. Such a laboratory would also create a robust environment for training graduate and health professional students and postdoctoral fellows. The research will ultimately improve the quality of genetic healthcare provided to babies with genetic diseases and their families in BC, with the hope to one day extend this service to more than 3,000 pregnancies or infants annually across Canada.