Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia

Area of Science:

• Genetics
• Public Health
• Cardiology

Background:

• Familial hypercholesterolemia (FH) is an autosomal dominant condition necessitating early intervention.
• Presymptomatic diagnosis and treatment of FH carriers significantly reduce premature cardiovascular risks.
• Dutch FH cascade screening programs have faced challenges regarding privacy and autonomy.

Purpose of the Study:

• To investigate stakeholder perspectives on actively approaching relatives for FH genetic screening.
• To identify barriers and facilitators for implementing effective FH cascade screening programs.
• To explore necessary realignments in roles and responsibilities for predictive, personalized, and preventive medicine.

Main Methods:

• Literature review of policy documents and scientific publications.
• Qualitative interviews with key stakeholders.
• Sociotechnical analysis to explore new roles and responsibilities.

Main Results:

• Stakeholders universally acknowledge the importance of early FH diagnosis and family notification.
• Key barriers include financial contributions, limited resources for informing relatives, and privacy regulations.
• The Dutch healthcare system's focus on cure over prevention presents a challenge.

Conclusions:

• Realigning stakeholder roles and responsibilities is crucial for successful genetic testing and family notification in FH.
• Addressing privacy, autonomy, and resource limitations is essential for optimizing FH cascade screening.
• Adapting healthcare strategies to embrace predictive, personalized, and preventive medicine is vital.