Currently, non-urgent patients may routinely wait 1-2 years to see a metabolic geneticist, an additional 3-4 months to get approval for next generation sequencing (NGS), and an additional 4-6 months to obtain results and counseling. The project aims to establish a Canadian Prairie Metabolic Network (CPMN) and describes a unique, combined clinical and laboratory approach to diagnosing, treating, and following-up on Inborn Errors of Metabolism (IEM) in the Prairies. This team proposes a rapid review/pre-genomics intake, an “OMICS First” approach which can take advantage of virtual care formats that could occur at CPMN member sites, remotely through community physicians, or through a medical geneticist to evaluate patients within 2 weeks of referral via Teleconference (or sooner based on clinical urgency). Post-NGS results would be reviewed in a comparable manner, which could avoid some patients needing to travel repeatedly to a referral centre and strategies and resources could be provided from the network to start treatment. The results of this project could lead to reduced wait times and improved healthcare access for Canadians.
ActiveHealthTechnology Platforms
GlycoNet Integrated Services
Competition/Funding OpportunityGenome Canada - Technology Development
Project Lead(s)/Co-Lead(s)Warren Wakarchuk (University of Alberta)