Array
Rare Diseases

Implementation of Diagnostic Whole Genome Sequencing for Rare Diseases in British Columbia

“Implementation of Diagnostic Whole Genome Sequencing for Rare Diseases in British Columbia” is a pilot project to develop a comprehensive end-to-end diagnostic genome clinical service encompassing policy building, patient and physician engagement and education, and a streamlined consenting process, with the aim of evaluating the feasibility of implementing whole genome sequencing (WGS) as standard of care for BC’s rare disease patients in order to ensure appropriate and timely access to clinical genomic diagnoses. Currently access to clinical WGS is not available in BC; however, this project will inform provincial planning and prepare the system to implement clinical sequence data during the project. The goals of this pilot will be achieved in collaboration with Illumina, as a primary industry partner. This collaboration will contribute to Genome Canada’s Precision Medicine initiative objectives to implement data sharing, best practices, and procedures, by enabling the adoptions of the BaseSpace suite of tools in Canada which adhere to the principles of the Global Alliance for Genomics and Health (GA4GH). We will collaborate with other public healthcare system genomic clinical (clinic and laboratory) services across Canada to share learning and develop resources, enhance variant interpretation, and streamline mechanisms for sharing and accessing genomic data for REB-approved research addressing health care problems; Illumina’s BaseSpace SequenceHub (BSSH) will enable these collaborations.