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In Canada, genomic sequencing to diagnose genetic conditions is a common practice across many medical specialties, including, but not limited to, clinical genetics, cardiology, immunology, and neurology. During this process, an individual's genome is compared to a reference dataset of genetic variation found in the general population. These datasets are known as background variant libraries.

However, since these datasets have been developed from research or clinical sequencing, not all populations are well represented. In Canada, individuals with Indigenous ancestry are not represented in these libraries. Although genetic testing can still be done and will result in a diagnosis in some cases, a lack of reference data severely limits the ability to make precise diagnoses in many Indigenous patients.

The Silent Genomes project, developed through extensive consultations with Indigenous community members, scholars and organizations, was specifically designed to address the lack of access to genomic diagnosis for Indigenous people. The project aimed to sustainably improve access to genetic/genomic diagnosis for Indigenous patients across Canada by developing an Indigenous Background Variant Library (IBVL).

To date, key achievements include:

• Creating policies for Indigenous genomic research, contributing to international policy discussions and forming the Silent Genomes-IBVL Governance Committee to ensure sustainability.
• Establishing a National Clinical Network (NCN) at 11 sites across Canada, which collaboratively enrolled 89 Indigenous patients with suspected rare disease to find a diagnosis. The NCN involved healthcare providers and research personnel who received Indigenous Cultural Safety training, are skilled in the diagnosis of rare disease, and continue to raise awareness of barriers to genomic healthcare.
• Partnering with First Nations communities and new research initiatives to build the IBVL, which is securely stored and accessible to clinicians through approved processes, ensuring data sovereignty for Indigenous participants. The IBVL became available to clinicians online in January 2025 and users across Canada have registered.
• Exploring Indigenous perspectives on genomic testing, health equity and cost-effectiveness to align healthcare with community values and preferences.

The Silent Genomes Project enhances diagnostic accuracy, reduces unnecessary healthcare costs, and informs policies for the ethical participation of Indigenous peoples in genomics. It provides a foundation for long-term improvements in Indigenous health outcomes, ensuring that all Canadians can benefit from the advancements in genomic medicine.

The work on this project is continuing with additional funding from Genome BC and Genome Canada, as part of Silent Genomes 2.0.