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Silent Genomes: Reducing health-care disparities and improving diagnostic success for Indigenous children with genetic disease

Status: 
Active
Competition: 
2017 Large-Scale Applied Research Project Competition: Genomics and Precision Health
Sector: 
Health
Genome Centre(s):
Genome British Columbia
Project Leader(s):
Laura Arbour (University of British Columbia), Nadine Caron (University of British Columbia), Wyeth W. Wasserman (BC Children’s Hospital Research Institute)
Fiscal Year Project Launched: 
2017-2018
Project Description: 

First Nations, Inuit and Métis’ populations, collectively known as the Indigenous Peoples’ of Canada, face strikingly similar health challenges with global Indigenous Peoples’. Inequities include barriers to healthcare access that produce poorer health outcomes compared to non-Indigenous groups.

Whereas genomic technologies are advancing health care by allowing medical treatments to be tailored to the specific needs of individual patients (‘precision medicine’), this ‘genomics revolution’ is widening the health inequities gap. In particular, compared to what is becoming routinely available to other Canadians, Indigenous populations often have little or no access to genomic technologies and the research that drives them, hence intensifying the ‘genomic divide’.

A key concern in the growing genomic divide is the lack of background genetic variation data for Indigenous populations living in Canada and globally. This prevents accurate diagnosis because the reference data are needed for precise genetic diagnosis. Notably, standard genomics resources are silent with respect to First Nations (FN), Inuit and Métis’. Silent Genomes will address the genomic divide by reducing access barriers to diagnosis of genetic disease in Indigenous children.

Silent Genomes, is a game changing partnership with First Nations, Inuit and Métis Peoples that will:

  • establish processes for Indigenous governance of biological samples and genome data,
  • lead to policy guidelines and best practice models, bringing equitable genomic testing to Indigenous children in Canada with suspected genetic diagnosis, and
  • develop an Indigenous Background Variant Library (IBVL) of genetic variation from a diverse group of First Nations in Canada.

Silent Genomes will improve health outcomes by enhancing equitable access to diagnosis, treatment, and care while assessing cost effectiveness of precision medicine.