Alberta patients with rare genetic diseases continue to face lengthy and expensive diagnostic odysseys, estimated at over $500 million in the past decade. In recent years, clinical genome-wide sequencing (GWS) has emerged as a rapid and cost-effective approach to diagnosis, providing a molecular diagnosis in 25-60% of patients. To date, Alberta Precision Laboratories has relied on international commercial laboratories to provide GWS. The volume of GWS has been increasing 30% per year, resulting in an unsustainable expense to the health care system. To address this, Alberta Precision Laboratories’ vision is to develop, evaluate and implement a large scale clinical GWS service and a governance framework that integrates genomics data provincially, nationally and internationally using a learning lab system that will continually optimize and improve performance. This is expected to begin a transformational change to health care in Alberta, enabling physicians to order a single comprehensive test and ensuring accessible, cost-effective and integrated GWS. The increased number of timely and cost-effective diagnoses will have an immeasurable impact on the physical and mental health of both rare disease patients and their families.
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.