Abstract 4120312: Patient Perspectives on Barriers and Facilitators to Familial Hypercholesterolemia Cascade Testing Through the Lens of the Socio-Ecological Model

Abstract

Background: Low uptake of Familial Hypercholesterolemia (FH) cascade testing, the stepwise identification of at-risk relatives, leads to missed opportunities for atherosclerotic cardiovascular disease (ASCVD) prevention. The IMPACT-FH study offered strategies (packet, chatbot, and direct contact) to support FH cascade testing. Hypothesis: We hypothesized that IMPACT-FH strategies would facilitate cascade testing uptake and overcome persistent barriers to cascade testing. Aim: We aimed to understand barriers and facilitators to FH cascade testing in the context of the socio-ecological model (SEM) which provides a framework to examine the interconnected influences of intrapersonal, interpersonal, institutional, community, and policy levels. Methods: Semi-structured interviews were conducted with IMPACT-FH study participants. The SEM informed qualitative analysis to identify barriers and facilitators to FH cascade testing. Results: A total of 15 FH probands (initial family member tested) and 12 relatives were interviewed, of whom the majority (59%) were female with an average age of 55.7 years. All relatives completed cascade testing. At the interpersonal level, probands reported that relatives’ attitudes about high cholesterol, including seriousness and treatability, were a barrier or facilitator to cascade testing. Probands explained how relatives’ beliefs were informed by interactions with their clinicians and societal beliefs about cholesterol (i.e., medication stigma). Interpersonally, probands described challenges overcoming relatives’ beliefs and a reluctance to encourage relatives to complete testing despite the availability of novel strategies. Probands and relatives reported that insurance policies and concerns about testing costs informed cascade testing decision-making. Institutional strategies to provide low-cost testing and cost transparency were described as facilitators. Variable access to clinicians with genetics expertise and licensure laws were described as barriers by out-of-state relatives. Probands and relatives agreed that strategies providing direct access genetics expertise (i.e., direct contact, chatbot) helped address these barriers. Conclusion: The IMPACT-FH study ameliorated barriers at higher levels of the SEM related to access to genetics expertise and cost. Intra- and interpersonal barriers remained challenging to overcome. To improve FH detection and ASCVD prevention, it is important to address barriers at all levels of the SEM.