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Familial hypercholesterolemia (FH) is one of the most common human genetic diseases, affecting one in 250 individuals, with increased cholesterol levels and risk for heart attacks and strokes. Treatment with cholesterol-lowering medications is extremely effective and can reduce the risk of cardiovascular diseases.

However, despite the expert recommendations of using genetic testing on the diagnosis of FH, no such program for FH exists in BC, or in most other jurisdictions in Canada. Over 90% of patients with this disease have not been diagnosed and therefore may not be receiving treatment. 

This project investigated the clinical utility of targeted next generation sequencing (NGS) to improve the detection of FH in BC, and studies FH patient perspectives towards such genetic testing. A cohort of 750 patients, that had been clinically diagnosed with FH were sequenced. Overall, a pathogenic mutation could be identified in ~40% of these patients, and the patients with a DNA mutation had a higher risk of developing heart disease.

The project identified a sub-group of patients, indicated by both a major mutation and a collection of more common genetic variants, had the highest level of risk for heart disease. These patients would not have been identified based on their clinical profile, demonstrating that genetic testing provides important information on guiding their treatment management. Most of the patients had a positive impression of genetic testing and felt it contributed to their treatment.  Future opportunities to implement such genetic tests in the clinic are under discussion with health authorities and the relevant stakeholders.