Abstract
BACKGROUND: Familial hypercholesterolemia (FH) is a common genetic disorder, yet it remains largely underdiagnosed in Canada. Multiple national and international guidelines recommend the use of clinical genetic testing for FH. However, the level of its accessibility and use within Canada is unclear. This study aims to describe the current state of clinical FH genetic testing in Canada and barriers to its implementation. METHODS: We conducted a cross-sectional survey of 23 genetic counsellors across 8 provinces, through the Canadian Association of Genetic Counsellors Cardiac Communities of Practice, to obtain information about the accessibility of genetic testing for FH and the use of genetic-counselling services. RESULTS: Responses were obtained from 12 genetic counsellors (52%). Of the 8 provinces surveyed, clinical FH genetic testing is available in 7, with British Columbia being the exception. The Simplified Canadian Definition for FH is the diagnostic criterion most commonly utilized to determine genetic-testing eligibility, and it is used in 5 of the 8 provinces. Notably, the referral rate to genetic counsellors typically is low, with most genetic-counselling programs receiving ≤ three referrals per site per month. Quebec is the only province to report a higher rate of genetic-counsellor referrals for FH. CONCLUSIONS: Clinical FH genetic testing is not available widely in Canada and its implementation varies significantly by province; this includes the eligibility criteria to qualify for testing as well as the utilization of genetic counsellors. A harmonized national approach to FH diagnosis could improve the rates of diagnosis and treatment.