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 first 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. Its goal was to sustainably improve access to genetic and genomic diagnosis for Indigenous patients across Canada by developing an Indigenous Background Variant Library (IBVL).

This project is the continuation of the first Silent Genomes project, with new funding from Genome Canada and Genome BC.  It will build on the work of the previous project, with three distinct aims:

1. To advance care for rare genetic diseases within Indigenous families, and find genetic causes for conditions like cerebral aneurysms that are impacting Indigenous communities
2. To enhance the quality of the IBVL, and expand it through further community engagement with First Nations, and to engage Inuit and Metis peoples about their participation
3. To consider the implications of the IBVL on health equity for Indigenous people, as well as social and economic implications, to consider Indigenous preferences and perspectives on rare disease diagnosis, and to evaluate the health equity of ongoing healthcare services to First Nations children in British Columbia

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.