Patient and family perspectives on cascade screening for thoracic aortic disease: a mixed-methods evaluation
Abbasciano, Riccardo Giuseppe Miksza, Joanne Barwell, Julian Shannon, Nora Clift, Paul Proietti, Riccardo Ahern, Una Saadia, Haleema McManus, Gordon Hewytt, Kathryn
Abbasciano, Riccardo Giuseppe
Miksza, Joanne
Barwell, Julian
Shannon, Nora
Clift, Paul
Proietti, Riccardo
Ahern, Una
Saadia, Haleema
McManus, Gordon
Hewytt, Kathryn
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.
MIDER Authors
Date
2026-03-02
Type
Article
Subject
Aortic diseases, Mass screening, Patient participation
Collections
Citation
Abbasciano RG, Miksza J, Barwell J, Shannon N, Clift P, Proietti R, Ahern U, Saadia H, McManus G, Hewytt K, Qureshi N, Ghosh L, Kaur R, Aujla H, Page S, Lewis M, Sayers R, Cotton A, Bown M, Skinner L, Maltby J, Krasopoulos G, Cameron D, Oo A, Elefteriades J, Owens G, Murphy GJ. Patient and family perspectives on cascade screening for thoracic aortic disease: a mixed-methods evaluation. Eur J Hum Genet. 2026 Mar 2. doi: 10.1038/s41431-026-02051-8. Epub ahead of print.
Journal / Source Title
European Journal of Human Genetics
DOI
10.1038/s41431-026-02051-8
PMID
41772284
Publisher
Nature Publishing Group
Publisher’s URL
https://www.nature.com/ejhg/