Cascade genetic screening was offered to fewer than half of eligible aortic dissection survivors, with only 47.8% receiving testing, and shared decision-making involvement was low at 27%.
Observational (n=242)
Yes
Despite guideline recommendations, uptake of cascade screening for thoracic aortic disease remains low due to systemic and psychological barriers, highlighting the need for user-centric Decision Support Tools.
Abstract Cascade screening enables effective secondary prevention and early treatment for Thoracic Aortic Disease (TAD) and increases survival. Despite guideline recommendations, the uptake of screening remains low. This study investigated individual and organisational barriers to screening participation. We performed clinician and public focus groups ( n = 19 participants across 5 sessions), semi-structured interviews (4 clinicians) and a national patient/relative survey ( n = 242 responses: 71 probands, 171 relatives). Behavioural theories guided data interpretation and thematic analysis. Data collection explored motivations, psychological and practical burdens, communication dynamics and attitudes towards screening and Decision Support Tools (DSTs). A national survey of TAD patients and their families provided quantitative context on demographics, genetic testing uptake and involvement in shared decision-making. Thematic analysis using the framework approach was applied to qualitative data. Qualitative analysis of focus groups, interviews and a national patient/relative survey ( n = 242) identified significant barriers to TAD cascade screening, including fragmented services, inconsistent clinician knowledge and patient confusion regarding genetic testing pathways. Survey data showed low genetic testing uptake (47% survivors; 44% and 21% for first- and second-degree relatives). Conversely, key facilitators for a DST included user-friendliness, multi-modal accessibility, clear risk/benefit communication and the inherent value of reassurance with professional endorsement from healthcare providers. These would directly address observed psychological and practical burdens. Patient and family engagement in TAD cascade screening faces complex barriers, including psychological burdens and systemic issues, resulting in a substantial shared decision-making gap. User-centric, multi-modal Decision Support Tools, supported by enhanced clinician education and structured family communication, are vital for effective TAD prevention
Abbasciano et al. (2026) conducted an observational in Aortic dissection survivors (probands) and their relatives at risk of nonsyndromic thoracic aortic disease (NS-TAD) (n=242). Cascade genetic and imaging screening for thoracic aortic disease vs. No screening or usual care was evaluated on Uptake of cascade genetic testing and involvement in shared decision-making. Cascade genetic screening was offered to fewer than half of eligible aortic dissection survivors, with only 47.8% receiving testing, and shared decision-making involvement was low at 27%.