Rare genetic disorders and congenital malformations indicating a possible genetic syndrome affect 1-2% of live births and are the leading cause of hospitalization and death in infants in Canada. A genetic diagnosis in the first few months of life can have critical implications on the clinical management of newborns and infants as well as on a child's health for their entire life. With upwards of 8,000 rare genetic conditions combined with very young patients presenting with non-specific or different symptoms than are observed in older patients, the precise diagnosis of a rare genetic disorder is often very difficult. The ultimate objective of the project is to offer rapid clinical genome-wide sequencing (GWS) to all critically ill newborns and infants who may benefit from this test in the province of Quebec. The first phase of this project will develop and study the impact of a rapid GWS program for the investigation of these children. The second phase will implement this program in the Quebec health care system.
Part of Genome Canada’s All for One initiative. This clinical implementation project will facilitate the uptake of genome-wide sequencing as a standard of care for rare diseases by the relevant ministries of health. It is funded as part of the All for One initiative, the goal of which is to improve the health and wellness of Canadians with serious genetic conditions by enabling access to a timely and accurate genomic-based diagnosis. Moreover, All for One will enable patients to benefit while helping others through the sharing of their clinical and genomic data within a learning health system. It lays a foundation for precision health in Canada.