DOI: 10.56367/oag-052-12531 ISSN: 2516-3817
Building rare disease diagnosis in Canada: People, expertise, and systems
Kym M. Boycott, Jacqueline Limoges, Taila Hartley, Caitlin Slomp, Erin DeBruin, Svenja EspenhahnBuilding rare disease diagnosis in Canada: People, expertise, and systems
Canada’s rare disease diagnostic challenge cannot be solved by genomics and data alone; it requires investment in the people, expertise, and clinical systems needed to recognize rare diseases earlier and translate advanced diagnostics into better care. In the first two articles in this series, we argued that Canada needs a genomics-informed learning health system for rare diseases and the data infrastructure to support it. But technology and data alone will not deliver earlier diagnoses. Canada also needs the people, skills, and clinical systems to recognize rare disease, provide specialized genetics expertise when needed, and translate increasingly sophisticated diagnostics into better care.