The Precision Diagnosis Study is Activity 2 of the larger Silent Genomes Project. The goal of this 4-year study is to increase access to genetic technologies and diagnosis for Indigenous families with undiagnosed genetic conditions by offering genomic testing in a culturally safe way. Genetic conditions are health problems caused by changes ('variants') in DNA, the genetic material we inherited from our parents, which tells our bodies how to work. Genetic conditions occur in all populations around the world, but we are only inviting families that self-identify as Indigenous (First Nations, Métis, or Inuit) to participate in this study, in an effort to improve access to accurate genetic diagnosis (‘precision diagnosis’) and genetic health care.
As with many other areas of healthcare, Indigenous families and communities often face greater barriers to accessing genetic diagnosis and genetic health services compared to non-Indigenous families. Since precise and timely diagnosis of genetic conditions often leads to better medical care for patients and increased knowledge and well-being for families, improving access to precision diagnosis for Indigenous families is one step towards increasing equity and closing the existing gap in health outcomes between Indigenous and non-Indigenous communities.
Through this study, state-of-the-art genomic testing (called 'whole genome sequencing') will be offered to at least 200 Indigenous families across Canada with a suspected genetic condition that has not been diagnosed through other medical tests. Whole genome sequencing is a new technology that can search all of a person's genetic material at once, to look for any DNA variants that might explain the cause of their health condition (i.e., diagnose their genetic condition). Currently, access to whole genome sequencing is not widely available through the Canadian health care system.
Study enrollment will take place through a network of genetic health centres, referred to as the 'National Clinical Network', located at several different sites across Canada. Individuals with a suspected genetic condition, who are interested in joining the study and meet all the study criteria, can be referred to the nearest enrollment site by their doctor. Most often, the referring doctor will be a specialist (e.g., geneticist, pediatrician or neurologist) who manages the individual's health care, is very familiar with their health condition, and has already carried out other medical investigations that have not found an explanation for the condition.
Who is doing this study?
The Precision Diagnosis Study (Activity 2 of the Silent Genomes Project) is co-led by Dr. Anna Lehman (clinical genetics doctor in Vancouver, BC) and Dr. Maja Tarailo-Graovac (genetics researcher in Calgary, AB). Dr. Laura Arbour (clinical genetics doctor in Victoria, BC) is the lead for the overall Silent Genomes Project.
There is a 'National Clinical Network' of several different enrollment sites across Canada where eligible families can join this study. The central study coordination site is in Vancouver, BC, with each site across Canada having its own local team of study doctors (geneticists), genetic counsellors, and/or research assistants.
Please see the list of Activity 2 contacts on Our Team page.