Familial hypercholesterolemia in the United States

The purpose of this research is to improve early diagnosis of familial hypercholesterolemia (FH) and through the implementation of cascade screening, or family genetic testing for FH. To identify areas for improvement, we are recruiting stakeholders to participate in qualitative interviews. We will use this information to better understand barriers and facilitators for a specific diagnostic strategy called cascade screening. This strategy involves contacting family members to discuss their risk of having familial hypercholesterolemia and arranging for screening to check for very high cholesterol and genes associated with it. Once this tool has been implemented, we will conduct 20 more qualitative interviews to further understand barriers and facilitators to adoption of the diagnostic tool.