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

Genomic Applications Partnership Program
GAPP Round: 
Genome Centre(s):
Genome British Columbia
Project Leader(s):
Anna Lehman (University of British Columbia)
Receptor Leader(s):
Pam Ramsay (Provincial Health Services Authority)
Fiscal Year Project Launched: 
Project Description: 

In the province of British Columbia, each year thousands of patients with genetic disorders require access to complex genetic tests that currently must be performed in laboratories outside of Canada. Building genomic diagnostic capacity within Canada will improve our understanding of these and other genetic disorders, as well as enhance the care of impacted patients and families. This project aims to evaluate the feasibility of integrating whole genome sequencing into standard of care for BC’s rare disease patients while facilitating the system changes necessary to achieve this anticipated future state. To accomplish this, the Provincial Health Services Authority’s Genome Diagnostics Laboratory and Provincial Medical Genetics Program, based at BC Children’s and BC Women’s Hospitals, will collaborate to introduce clinical whole genome sequencing diagnostics to a subset of patients with rare diseases under a pilot project, as well as collaborate with UBC to perform the necessary health economic assessment to inform this feasibility study. This project will also identify and support the development of processes requiring further resources and education while outlining policies involving inter-laboratory knowledge sharing, clinic-lab collaboration and stakeholder engagement. This project is made possible through the support of the Provincial Health Services Authority, Genome Canada, Genome BC, and Illumina, Inc. The deliverables of this project will support implementation of BC’s broader genomic strategy.

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.