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Familial Hypercholesterolemia, or ‘FH’, is one of the most common genetic diseases, affecting 1 in 250 people. FH leads to increased cholesterol, which results in increased risk for early onset heart disease. About 1 in 14 people who have a heart attack before the age of 60 have FH, but 99% of them were not aware of it before their heart attacks. In British Columbia, because of the lack of genetic testing for FH, many patients with this condition remain undiagnosed, and therefore may not be receiving optimal medical care.

Providence Health Care (PHC) as the Sector Partner Leader on this project, is a healthcare organization in BC and home to St. Paul’s Hospital. PHC is also one of two academic medical centres in the province, and the provincial specialty centre in cardiac care. Dr. Liam Brunham (the academic partner/project leader) leads a research laboratory that has developed a solution in the form of an accurate genetic testing panel to identify FH.

The objectives of this project are to study how using this genomic technology during the routine care of patients admitted to hospital with a heart attack can improve the diagnosis of FH, change the way that physicians treat these patients, and ultimately improve outcomes for these patients. The longer term outcome of this project will be to create the evidence and expertise needed to implement genetic testing for FH in the entire province. This will improve the health of British Columbians, and enhance the reputation of the province as a leader in the application of genomics in clinical care.