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

January 23, 2018
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The Genome Canada’s 2017 Large-Scale Applied Research Project (LSARP) Competition will support six innovative projects led or co-led by investigators at BC Children’s Hospital, an agency of the Provincial Health Services Authority, including:

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

 “The Indigenous Peoples of Canada face unique health challenges, inequities, and barriers to health care and typically have poorer health outcomes than non-Indigenous groups. While leading-edge genomic technologies are becoming routinely available to other Canadians, Indigenous people often have little or no access to these technologies, increasing the health disparity gap. Silent Genomes is a game-changing effort to address this inequity, by bringing life-changing genomic diagnosis to children while ensuring Indigenous-led governance over biological samples and health data.” -Dr. Laura Arbour, Investigator and Clinical Geneticist, BC Children’s and Island Health; Professor, Department of Medical Genetics, University of British Columbia. 

Precision medicine, the creation of new precisely targeted therapies with a patient’s genetic information, is poised to revolutionize treatment and care, particularly for children with complex health conditions caused by genetic disease. Significantly, Indigenous Canadian communities (First Nations, Métis and Inuit) are increasingly left behind in this “genomics revolution” and continue to face longstanding barriers to accessing health care. 

Silent Genomes will work in concert with Indigenous Canadian communities to change this by:

  • Establishing First Nations, Inuit and Métis-led governance and model policy development for genomic research and clinical care 
  • Bringing state-of-the-art genomic testing to Indigenous children in Canada suspected of having a genetic condition 
  • Creating an Indigenous Background Variant Library (IBVL) of genetic variation from a diverse group of First Nations in Canada that will improve the accuracy of genomic diagnosis by providing necessary reference data
Dr. Arbour leads this project with co-leads Dr. Wyeth Wasserman, BC Children’s and UBC; and Dr. Nadine Caron, University of Northern British Columbia. This project is based at BC Children’s, BC Women’s Hospital + Health Centre and UBC.