Patient Perspectives Regarding Genetic Testing for Familial Hypercholesterolemia

Area of Science:

• Cardiovascular Genetics
• Medical Diagnostics
• Patient Experience Research

Background:

• Familial Hypercholesterolemia (FH) is a prevalent genetic disorder causing high LDL cholesterol and increasing cardiovascular disease risk.
• Genetic testing for FH is recommended but limited in Canada, creating a data gap on patient experiences.
• Understanding patient perspectives on genetic testing is crucial for improving care pathways.

Purpose of the Study:

• To investigate the attitudes and perspectives of patients with FH who have undergone genetic testing.
• To explore patient experiences with the FH genetic testing process.
• To assess patient motivation for cholesterol management and willingness to recommend genetic screening.

Main Methods:

• An anonymous online survey was administered to 183 participants in the British Columbia FH Registry.
• Participants had undergone research-based genetic testing for FH.
• The survey assessed experiences, willingness to recommend screening, and motivation for lowering cholesterol.

Main Results:

• Among 183 respondents, 38% had positive FH genetic test results.
• Patients with positive FH genetic test results were more likely to consider lipid-lowering therapy highly important (74.3%) compared to those awaiting results (55.4%).
• Positive genetic test results correlated with a stronger belief in the importance of an FH diagnosis (71.1%) and a higher likelihood of recommending genetic screening to family members (85.9%).

Conclusions:

• This study is the first in Canada to examine FH patient perspectives on genetic testing.
• Genetic testing for FH may positively impact patient-centered outcomes, including therapy adherence and family screening.
• Findings highlight the potential value of genetic testing in enhancing patient engagement and understanding of FH management.