Utilizing innovative implementation strategies for familial hypercholesterolemia: Implementation outcomes from the...

Area of Science:

• Implementation Science
• Public Health
• Genetics

Background:

• Familial hypercholesterolemia (FH) is a genetic condition increasing cardiovascular disease risk.
• Cascade testing is a key strategy for identifying at-risk relatives.
• The IMPACT-FH program aimed to optimize FH cascade testing implementation.

Purpose of the Study:

• To assess the implementation outcomes of the IMPACT-FH cascade testing program.
• To evaluate the appropriateness, acceptability, and feasibility of the program's strategies.

Main Methods:

• Qualitative and quantitative methods were employed.
• 33 participants (15 probands, 12 relatives, 6 HCPs) were interviewed.
• Thematic analysis and descriptive statistics were used to analyze data.

Main Results:

• Participants adopted strategies due to low-cost FH cascade testing opportunities.
• Barriers included disclosure complexity, cost confusion, and technology discomfort.
• High ratings for appropriateness (M=4.70), acceptability (M=4.79), and feasibility (M=4.24) were reported.

Conclusions:

• The IMPACT-FH program and its strategies were deemed valuable, appropriate, acceptable, and feasible.
• Enhancements were suggested to further improve FH cascade testing uptake.