April 26, 2022
A conversation with Craig Ivany, Tanya Nelson, Anna Lehman, and Linlea Armstrong
Mr. Ivany is BC’s Chief Provincial Diagnostics Officer; Dr. Nelson is Head of the Division of Genome Diagnostics in the Department of Pathology and Laboratory at BC Children’s and BC Women’s Hospitals; Dr. Anna Lehman is Associate Professor of Medical Genetics, representing University of British Columbia on this project; Dr. Linlea Armstrong is Medical Director of the Provincial Medical Genetics Program at BC Children’s and BC Women’s Hospitals
What is Genome Canada’s All for One initiative?
The Genome Canada-led All for One precision health partnership seeks to advance a new standard of health care for Canadians, expanding access to genome-wide sequencing for diagnosis and treatment of life-threatening genetic diseases. All for One is deployed across six implementation projects serving nine provinces, funded through Genome Canada’s Genomic Applications Partnership Program (GAPP).
What is genome-wide diagnostic testing and how is it helpful for patients?
Genome-wide diagnostic testing examines genes known to cause disease and identifies changes in them that may be responsible for a patient’s disorder. Without a diagnosis, it is hard for patients with rare medical or developmental issues, their families, and their doctors to know how to optimize health and plan for the future. More and more rare genetic diseases have specific treatments that improve outcomes. Furthermore, understanding the cause can relieve the anxiety of not knowing, stop any mis-directed blame or attribution, and finally end what may have been years of testing looking for a diagnosis. Finally, when a new genetic diagnosis is made in a family, powerfully helpful information about who is at risk—and who is not—can be made available to those who want it.
What is happening in BC?
The Provincial Health Services Authority (PHSA), together with partnership from University of British Columbia researchers and The Hospital for Sick Children in Toronto, developed a pilot project to offer BC patients genomic testing that would be performed in Canada. The aims of the project focused on identifying potential barriers to feasibility, creating new workflows and expertise, and onboarding new tools and infrastructure. The proposal was funded by Genome BC and Genome Canada, with partnership support from Illumina, in March 2020.
Where are things at now?
The Provincial Medical Genetics Program and the Genomic Diagnostics Laboratory at Children’s and Women’s Hospital have worked for the last two years to be ready to introduce this highly complicated diagnostic test and have recently begun to collect samples from patients who need this testing.
What is next?
We in health care already know that genome-wide diagnostic testing is highly effective and essential, so the goal of this project is not so much to measure efficacy, as it is to continue to systematically evaluate the costs, and opportunities related to test patriation. We anticipate hundreds of patients will directly benefit from this pilot project and that our organization as a whole will benefit from a more informed experience when developing future genomic strategies for the province.
