Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical...

Next-generation sequencing has transformed diagnosis, prognosis, and treatment across rare disease, cancer, immunology, and infectious disease. As variant interpretation may evolve with emerging evidence, sharing genetic data is essential to improve diagnostic accuracy and advance genomic medicine. However, practical guidance for implementing clinical genetic data sharing remains limited. The Canadian College of Medical Geneticists (CCMG), therefore, developed national guidance to support secure, ethical, and effective genetic data sharing by Canadian clinical laboratories. An ad hoc CCMG working group with broad geographic and disciplinary representation developed the initial framework of this guidance through six meetings. Members included clinical laboratory geneticists, genomics specialists, a legal expert, a clinical geneticist, and a genetic counselor. The process drew on expert consensus (including patient and family perspectives), existing frameworks, and relevant peer-reviewed evidence, followed by iterative external review. Reporting was informed by the Appraisal of Guidelines for Research and Evaluation II (AGREE II) framework. The guidance provides recommendations to support genetic data sharing by Canadian clinical laboratories. It addresses benefits, risks, and ethical considerations, with emphasis on proportionality, privacy, and governance. Recommendations include approaches to sharing diverse genetic data types, establishing institutional policies, and addressing implementation barriers. This guidance aims to align Canadian clinical laboratory data-sharing practices with international standards and improve diagnostic accuracy, equity, and innovation in genomic medicine. By emphasizing ethical principles, proportionality, and governance, it seeks to enable responsible data sharing; strengthen trust among patients, families, and professionals; and contribute to the broader global genomic data ecosystem.