Patient Perspectives Regarding Genetic Testing for Familial Hypercholesterolemia

Abstract Background Familial hypercholesterolemia (FH) is a common genetic disorder resulting in high levels of low-density lipoprotein-cholesterol (LDL-C) and increased risk of atherosclerotic cardiovascular disease. Genetic testing for FH is recommended but is not available in most of Canada. Consequently, there is a paucity of data regarding patient experiences with genetic testing. The objectives of this study were to investigate the attitudes and perspectives of patients with FH undergoing genetic testing. Methods We administered an anonymous online survey to participants in the British Columbia FH Registry who had undergone research-based genetic testing for FH. The survey included 25 questions and explored patients’ experiences with the genetic testing process, willingness to recommend genetic screening and motivation to lower cholesterol levels. Results Among 183 respondents, 38 (20.7%) had a positive genetic test result, 27 (14.8%) had a negative result, and 118 (64.4%) were awaiting their results. Compared to individuals awaiting their test results, participants with a positive genetic test were more likely to feel lipid-lowering therapy was highly important (74.3% vs. 55.4%, p=0.05). They were also more likely to strongly agree that a diagnosis of FH was important to them (71.1% vs. 46.2%, p = 0.008), and were more likely to recommend genetic screening to their family members (85.9% vs. 72.9%, p=0.04). Conclusions This is the first study in Canada to explore the perspectives of patients with FH undergoing genetic testing. These results suggest that genetic testing for FH may offer benefits in important patient-centred outcomes.