The Silent Genomes Project (SGP) is a Canadian research project established in 2018 that aims to increase access to genomic testing technologies and improve diagnostic outcomes for Indigenous people with genetic conditions. Its development was supported by the Assembly of First Nations, the Métis National Council, and Inuit Tapiriit Kanatami. In its current phase, the main focus is building a sustainable path for continued genetic/genomic care, carried out through three overlapping activities with Indigenous engagement, governance, and capacity building integrated throughout. Please read the Resource Document or visit www.bcchr.ca/silent-genomes-project for further information about the Silent Genomes Project and the three activities.

A background variant library (BVL) is a database which provides the frequencies of specific DNA variants in a population. The Indigenous Background Variant Library (IBVL) is a digitally stored database that shows the overall frequency of DNA variants found in populations of Indigenous people sampled who have not been diagnosed with a severe (i.e. significantly impacting health and/or development) pediatric genetic condition. Prior to the establishment of the Silent Genomes IBVL, there have been no BVLs specifically created to hold Indigenous data with Indigenous governance in Canada.

Indigenous Peoples worldwide are poorly represented in currently available BVLs compared to other populations. Inclusion of diverse populations in BVLs is important because each population around the world has certain variants that are unique to them. These variants can be absent, or observed at different frequencies, in the DNA of other populations. Establishing Indigenous-specific variant frequencies allows for more effective assessment of whether a variant identified in an Indigenous patient may be rare (more likely to be disease-causing) or common (more likely to be benign). This leads to faster diagnosis, more effective health management and treatment for patients, and reduced stress for families.

Under the principles of Indigenous Data Sovereignty, the data within the IBVL belongs to the Indigenous Peoples who provided samples. The data collection is under the stewardship of the BC Children’s Hospital Research Institute (legally a unit of the Provincial Health Services Authority of British Columbia). The governance of the data is under the direction of the SG-IBVL Governance Committee, an Indigenous-led and Indigenous-operated committee providing cultural oversight, strategic advice and decisions in regards to the IBVL.

• Version 1.2 is composed of 596 genomes
• Four First Nation communities, spread across Canada, are represented in the IBVL

The Canadian Alliance for Healthy Hearts and Minds – First Nations Cohort

CAHHM is a prospective cohort study designed to investigate the impact of community level factors, individual health behaviours, and access to health services, on cognitive function, subclinical vascular disease, fat distribution, and the development of chronic diseases among adults living in Canada. The First Nations cohort involves a strong partnership between academic institutions and First Nations communities, with a governance model where each community owns their data, controls its dissemination, and decides when and what research is in the best interests of their specific community. Four First Nations communities that are a part of CAHHM decided to take part in the IBVL. After significant engagement and discussions, samples were transferred from CAHHM to the Silent Genomes Project to build the first version of the IBVL.

Pan-Canadian Genome Library (PCGL)

PCGL is an initiative for unifying Canada’s human genome sequencing efforts in a federated data management system. PCGL has been working in partnership with the Silent Genomes Project and the IBVL, to promote benefits from national advances in genomic medicine for Indigenous patients while keeping genomic data protected under Indigenous-led governance and used only in ways that align with consent, cultural priorities, and data sovereignty principles. Indigenous participants who choose to take part in genomic research that is submitted to the PCGL may opt to place their data in the IBVL. Their data would then be under the governance, storage, and access limits of the IBVL, in line with OCAP and UNDRIP principles.

For manuscripts presenting sequencing data obtained through the Silent Genomes Project and/or using the genomic data within the IBVL for analysis. Please submit the form to silentgenomes@uvic.ca

Request form for manuscript review (English)

For the research proposals that aim to utilize variant frequency data present in the Silent Genomes Project IBVL. Please submit for the form to silentgenomes@uvic.ca

Request form for clinical research review (English)