Patient and family perspectives on cascade screening for thoracic aortic disease: a mixed-methods evaluation

作者：Riccardo Giuseppe Abbasciano, Joanne Miksza, Julian Barwell, Nora Shannon, Paul Clift, Riccardo Proietti, Una Ahern, Haleema Saadia, G.J. McManus, Kathryn Hewytt, Nadeem Qureshi, Laerke Ghosh, Ramanjit Kaur, Hardeep Aujla, Sue Page, Mark Lewis, R.D. Sayers, Anne Cotton, M. D. Bown, Lisa D. Skinner, John Maltby, George Krasopoulos, Duke Cameron, Aung Oo, John Elefteriades, Gareth Owens, Gavin James Murphy · 发表于：European Journal of Human Genetics · 年份：2026 · DOI：10.1038/s41431-026-02051-8 · 被引用次数：1 · 研究领域：Aortic Disease and Treatment Approaches、Cardiac Valve Diseases and Treatments、Aortic aneurysm repair treatments

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/bene...