Abstract
Whole genome analysis for patients impacted by rare disorders has allowed enormous success in diagnosis, often resolving diagnostic odysseys of many years. Key to such analyses is comparison of observed genetic variation against reference databases that report the observed frequency of variants in the healthy population. For Indigenous peoples around the globe, and particularly in Canada, the reference data is lacking, resulting in delays or inability to achieve clear diagnoses for many. The Silent Genomes Project has sought to enable the creation of such reference data in a manner that is consistent with the United Nations Declaration on the Rights of Indigenous Peoples and other guiding principles that hold that Indigenous peoples have the right to sovereignty over their genetic information. The seminar will tell the story of finding the path to Indigenous governance for genetic data, the technical creation of the reference library, its impact on improving diagnosis and statistical genetics questions informing future improvements in the population reference data. Reference will be made to related projects around the world.