BC Children's Hospital and BC Women's Hospital + Health Centre are piloting the complicated sequencing as a clinical diagnostic service, all within the borders of our country.
"We're piloting doing everything at home, here in Canada," says Cassie McDonald, the project manager for the pilot. "When patients need genome-wide sequencing, we used to send those samples to private companies to do the sequencing analysis outside of Canada."
Genome-wide sequencing examines the entire genetic makeup of a person and it has become a powerful diagnostic tool.
Pinpointing a diagnosis with genome-wide sequencing is complicated because it requires state-of-the-art technology, artificial intelligence software, as well as the expertise of experienced laboratory and clinical geneticists. Until this pilot, it was not yet available within B.C.
The pilot project is part of Genome Canada's "All for One" precision health initiative. This health initiative will enable a new and more consistent standard of care for patients with rare diseases, as well as more collaboration between provinces, all of which will mean better care for patients.
Building new infrastructure and practice policies from the ground up took time, care and support from teams across the Provincial Health Services Authority (PHSA), as well as funding support from Genome Canada, Genome British Columbia, PHSA, and Illumina, Inc.
The pilot is a collaboration of the PHSA Provincial Medical Genetics Program and the Division of Genome Diagnostics, based out of BC Women's and BC Children's hospitals. The overarching project also includes a research project in collaboration with the University of British Columbia. In addition to the collaborative efforts within PHSA, the success of pilot relies on the coordination of established genetics sites across the country, joining forces and sharing resources.
Patients getting this test often have complicated medical or developmental concerns without a diagnosis.
"They're patients from across B.C. who have a rare disease or a suspected inherited genetic condition that is not easily detected using conventional diagnostic testing" Cassie says.
Offering the service within Canada will remove the complicated processes currently required to access this care, improve access, and free up health-care provider time to spend with patients.
A major added bonus is the close communication between the laboratory and clinic, which helps the team more accurately hone in on a correct diagnosis for a patient.
"Patients who have rare diseases have a really long, what we call, 'diagnostic odyssey,' says Cassie. "They have an average of about seven to eight years from the first time they see a specialist to the time of diagnosis. If we are able to implement genome-wide sequencing as a standard of care, patients have a better chance of getting informative results on the first test, potentially avoiding a process of lengthy testing and reducing the time that patients have to wait to get a diagnosis."
Investing in our own Canadian brain bank of medical expertise ensures we are best able to meet our own B.C. health-care needs, now and into the future.
"The pilot runs until the end of December 2024," Cassie says. "By that time, we will have policies and a plan for how to implement this fully as a provincial standard of care."
Part of the project is also looking at the long-term economic impact of implementing this testing.
Building on practice policies and expertise established through the pilot, the goal is to enable a program that is fully available within B.C.'s healthcare system for all eligible patients in B.C. This work is already well underway, made possible by the generosity of BC Children's Hospital Foundation (BCCHF) donors.
For more information about the clinical pilot, please see the All for One website.