Work

Rethinking rare disease diagnosis in Canada

Year: 2026

Type: article

Abstract: Rethinking rare disease diagnosis in Canada Authors from the Canadian Rare Disease Network (CRDN) explain how a genomics-informed learning health system would facilitate better data sharing and improve diagnostic processes, ultimately benefiting patients with rare diseases. Rare diseases (RDs) collectively affect more than 3 million people in Canada, yet timely diagnosis remains one of the most persistent challenges in the health system. For individuals and families, a diagnosis is not simply a label – it is a gateway to appropriate care, access to therapies and clinical trials, participation in research, and connection to essential supports.

Source: Open Access Government

DOI: 10.56367/oag-050-12531

Authors: Francois P Bernier, Kym M Boycott, Leanne M Ward, Ian Stedman, Durhane Wong-Rieger, Svenja Espenhahn

Institutions: University of Calgary, University of Ottawa, York University, Canadian Organization for Rare Disorders

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDGs: Good health and well-being, Reduced inequalities

Open Access status: hybrid

OpenAlex ID: W7155032697