Patient and Family Perspectives on Cascade Screening for Thoracic Aortic Disease: A Mixed-Methods Evaluation

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Despite guideline recommendations, the uptake of screening remains low. This study investigated individual and organisational barriers to screening participation. Methods 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. Results 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, directly addressing observed psychological and practical burdens. Conclusions 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 Health sciences/Health care/Health services/Genetic services Scientific community and society/Social sciences/Psychology/Human behaviour Thoracic Aortic Disease Cascade Screening Genetic Testing Shared Decision-Making Patient Experience Qualitative Research Figures Figure 1 Introduction Thoracic Aortic Disease (TAD) is often characterised by a prolonged latent phase of asymptomatic aneurysm formation that often results in acute aortic dissection, an event with a mortality rate exceeding 70%. 1,2 This condition affects approximately 1 in 2,000 individuals and is responsible for nearly 3,000 deaths annually in the UK, surpassing the mortality rate from road traffic accidents. 3 Over 20% of TAD cases have an identifiable genetic cause, with up to 30% of first- and second-degree relatives potentially carrying pathogenic variants or having asymptomatic aneurysms detectable through cascade screening. 4 Early detection of TAD through targeted cascade screening of the families of those affected reduces mortality, as it enables timely secondary prevention and early treatment. 1 , 2 International treatment guidelines recommend cascade screening involving genetic testing and aortic imaging for relatives of all people with Syndromic-TAD, with screening restricted to relatives of individuals with non-syndromic TAD (NS-TAD) when the proband (the first identified case in a family) is under 60 years of age or has a family history of the disease. 1 , 2 Despite these recommendations, the real-world availability and uptake of cascade screening is low and demonstrates regional variation. 5 – 7 Qualitative research methods are used to understand and overcome barriers to implementation of healthcare interventions. The aims of this study were to use established behavioural science models to investigate patient, family, and clinical perspectives on TAD cascade screening, to identify key motivations, individual and institutional barriers, and potential facilitators for engagement. A specific objective was to inform the co-production of a Decision Support Tool (DST) that would enable informed, personalised, shared decisions about screening for probands and families. Materials and Methods Design This study used a qualitative, applied health research design including semi-structured interviews and focus groups involving both clinicians and members of the public. A national survey administered to aortic dissection survivors (probands) and their relatives, providing a quantitative context to the lived experiences of TAD sufferers, their families, and clinicians caring for people with TAD identified by the qualitative work. The research followed the Standards for Reporting Qualitative Research (SQRQ) checklist 9 . [ Supplementary Materials – Appendix 1 ] The study received ethics approval from the University of Leicester. Informed consent was obtained from all participants. Co-production involved a partnership with the national patient charity for aortic dissection survivors and the families of those with TAD; Aortic Dissection Awareness UK and Ireland (ADA-UKI). Methodological Framework The interpretation and analysis of the qualitative data drew on four established behavioural science frameworks: the Unified Theory of Acceptance and Use of Technology (UTAUT and its expansion UTAUT2) 10 , 11 , the Theory of Planned Behaviour (TPB) 12 , 13 , Self-Determination Theory (SDT) 14 , 15 , and Health Literacy models 16 . Rather than relying on a single model, which risks providing only a partial or skewed account of behaviour, these four frameworks were applied together to capture different but interconnected processes relevant to technology adoption and health-related decision-making, linking social, cognitive, motivational, and informational dimensions. Each framework brings a distinct perspective, yet they often overlap in aspects of either perception, intention, motivation, and capability, reflecting the complex and dynamic ways in which these broader processes interact. The UTAUT and UTAUT2 examine technology adoption through factors such as performance and effort expectancy, social influence, facilitating conditions, hedonic motivation, price value, and habit, focusing on users’ perceptions and interactions with technology. The TPB highlights how attitudes, subjective norms, and perceived behavioural control shape intentions and subsequent behaviour. The SDT explains why individuals engage in specific behaviours and the extent to which these are self-determined, emphasising the importance of autonomy, competence, and relatedness in fostering intrinsic motivation, well-being, and engagement. Finally, Health Literacy models foreground individuals’ ability to access, understand, evaluate, and use health information, which is crucial for making informed health decisions, particularly in technology use. Taken together, these frameworks provide a more comprehensive and multi-layered interpretation of the qualitative data than any single model alone. Participants The target population for this research was individuals at risk of non-syndromic Thoracic Aortic Disease (NS-TAD), specifically aortic dissection survivors and their relatives and caregivers. Clinicians involved in providing care to these patients were also approached. Research Procedures A digital survey, consisting of 60 questions, was developed and administered via an online platform (SurveyMonkey, Symphony Technology Group, San Mateo, California) to members of Aortic Dissection Awareness UK & Ireland. A team of clinicians and patient-as-researchers produced the first draft of the survey, which underwent subsequent rounds of refinements in both contents and structures with public involvement. Its primary purpose was to provide quantitative context on demographics, genetic testing uptake, and reported involvement in shared decision-making among individuals at risk of TAD, and to identify barriers to cascade screening to inform the design of a DST to support screening decisions. The survey was active for seven months, from April to November 2022. Two rounds of focus groups were conducted between October 2022 and May 2023. The first round evaluated participants' opinions on the design and potential utility of a DST for cascade screening, building upon initial responses gathered from the national survey. The second round explored individual and institutional barriers to DST use, with a particular emphasis on challenges related to technology adoption. Sessions lasted approximately 90 minutes and were conducted using video conferencing to allow for broader geographical representation. To complement the patient and public perspectives, clinicians involved in TAD management were invited to participate in focused interviews. These interviews explored the same questions as the focus groups, specifically aiming to identify and discuss strategies for overcoming existing barriers to screening and DST adoption. Questionnaires were created for the clinicians and the patients and family members on their opinions on overcoming the barriers identified and all participants were invited to complete them. Data processing prior and during the analysis included transcription with full anonymization and de-identification of excerpts, and general information about the group’s compositions were recorded. Analysis Analysis A systematic thematic analysis approach was applied to the qualitative data to identify, analyse, and report recurring patterns and themes. 17 Initial coding was conducted independently by two researchers, with disagreements resolved through discussion and consensus. Themes were developed inductively from the data while being informed by existing literature on genetic testing decision-making. Survey data were analysed descriptively, with findings integrated with qualitative themes to provide a comprehensive understanding of the phenomenon. To guide the interpretation of qualitative data we considered the aforementioned theoretical contexts and therefore the analysis specifically looked for: • Perceptions and Usability of Technology: How participants viewed the ease of use and usefulness of genetic screening technologies and DST. • Behavioural Intentions: Attitudes towards genetic screening, including perceived benefits and risks. • Social Influences: The impact of societal norms and opinions of others on participants' decisions. • Control and Accessibility: Participants' perceptions of their ability to access and effectively use genetic screening technologies. • Health Literacy Levels: How well participants understood genetic screening information and its implications. Results Survey Findings The survey gathered a total of 242 responses, including 71 from aortic dissection survivors (probands) and 171 from their relatives. The demographic characteristics of these participants are detailed in Table 1 , and in Fig. 1 along with the key findings from the survey. These participants represented diverse geographic regions across the UK. Table 1 Demographics of National Patient Survey Participants Patients Relatives Number 71 171 Age (Years) Mean (IQR) 58.4 (46.0–70.8) 42.5 (31.3–57.6) Age (Years) categorised (%) Under 20 0 (0) 11 (6.5) 20–30 0 (0) 28 (16.5) 30–40 2 (2.8) 41 (24.1) 40–50 11 (15.5) 29 (17.1) 50–60 29 (40.8) 28 (16.5) 60–70 22 (31.0) 22 (12.9) 70+ 7 (9.9) 11 (6.5) Sex (%) Male 36 (50.7) 68 (39.8) Female 35 (49.3) 103 (60.2) Ethnicity (%) White 69 (97.2) 165 (95.9) Black 1 (1.4) 1 (0.6) Asian 0 (0.0) 1 (0.6) Chinese 1 (1.4) 0 (0.0) Mixed/Other 0 (0) 5 (2.9) Region (%) Cymru/Wales 4 (5.9) 7 (4.1) East 5 (7.4) 8 (4.7) East Midlands 7 (10.3) 17 (10.1) London 7 (10.3) 18 (10.7) North East 2 (2.9) 6 (3.6) North west 4 (5.9) 19 (11.2) Scotland 2 (2.9) 4 (2.4) South East 13 (19.1) 7 (4.1) South West 13 (19.1) 35 (20.7) West Midlands 3 (4.4) 24 (14.2) Yorkshire and the Humber 8 (11.8) 11 (6.5) Time since aortic dissection (%) One year 17 (23.9) na Two years 7 (9.9) na Three years 12 (16.9) na More than three years 35 (49.3) na Relation to person with dissection (%) First degree na 154 (89.0) Second degree na 16 (9.3) Other na 3 (1.7) Diagnosed with syndromic condition (%) Yes 6 (8.5) 5 (3.1) No 65 (91.5) 159 (97.0) Had a relative diagnosed with syndromic condition (%) Yes 6 (8.5) na No 58 (81.7) na Don’t know 7 (9.9) na Received genetic testing (%) No, but was offered it 3 (2.9) 3 (1.9) No, wasn’t offered it 34 (49.3) 120 (77.4) Yes 33 (47.8) 32 (20.7) Received genetics appointment (%) Yes na 15 (9.2) No na 143 (87.7) Not sure/ Don’t want to say na 5 (3.1) Demographics of all respondents to the national survey; na – Not Applicable; SD – Standard Deviation . The mean age of probands was 58.4 years (IQR 46.0–70.8). The age distribution showed that 11/71 (15.5%) were aged 40–50 years, 29/71 (40.8%) were 50–60 years, 22/71 (31.0%) were 60–70 years, and 11/171 (6.5%) were above 70 years. The sex distribution was nearly balanced, with 36/71 (50.7%) male and 35/71 (49.3%) female participants. The median age of relatives was younger at 42.5 years (IQR 31.25–57.6). The age distribution showed that 11/171 (6.5%) were below the age of 20, 28/171 (16.5%) were aged 20–30 years, 41/171 (24.1%) were 30–40 years, 29/171 (17.1%) were 40–50 years,, 28/171 (16.5%) were 50–60 years, 22/171 (12.9%) were 60–70 years, and 11/171 (6.5%) were above 70 years. Females constituted a majority of the relatives at 103/171 (60.2%), compared to 68/171 (39.8%) males. The majority, 154/171 (89.0%) were first-degree relatives of probands. Only 9/272 (3.3%) respondents were from non-white backgrounds. The survey demonstrated that 33/70 (47%) of aortic dissection survivors who responded had undergone genetic testing, including 10/22 (45%) with a positive family history of TAD. In first- and second-degree relatives, 66/150 (44%) and 32/155 (21%) of respondents were offered imaging or cascade genetic testing respectively. Thirty-three out of 69 (48%) dissection survivors with a positive family history of TAD had received genetic testing. Out of 42 patients who were under 60 years old when completing the survey 24(57.1%) received genetics screening. Sixty-six out of 150 (44%) and 32/155 (21%) of the first- and second-degree relatives of TAD sufferers who responded were offered imaging or cascade genetic testing respectively. When asked if anyone in their family was diagnosed with TAD, 32/149 (21%) replied that other members of their family were found to have an undiagnosed aneurysm via imaging, and 20/147 (13.6%) replied that there was a positive genetic test in their family. Four out of 70 (6%) dissection survivors, and 35/150 (23.3%) relatives who responded had a second family member who went on to have an aortic dissection. Only 19/71 (27%) probands and 20/155 (13%) relatives in our survey reported that they were involved in shared decisions about their care. The survey identified the ongoing risk within families; 4/70 (6%) survivors and 35/150 (23.3%) relatives had experienced a second family member suffering aortic dissection. Thematic Analysis Nineteen participants, including aortic dissection survivors and their family members, engaged in five focus group sessions. Among those who provided demographic information, 4/12 (42%) were female and 5/12 (83%) were of White ethnicity, 1 (8%) was from Asian and 1 (8%) was from Caribbean backgrounds. Participants were younger (mean age: 58.4) than the UK average TAD patient population (73.0, IQR 63.0–81.0). Four clinicians involved in the management of thoracic aortic disease participated in focused interviews, and the analysis was guided by the Unified Theory of Acceptance and Use of Technology, the Theory of Planned Behaviour, Self-Determination Theory, and Health Literacy models. Perceptions and Usability of Technology Performance Expectancy was high. Participants generally held positive attitudes towards the use of a DST with technology, expressing a high likelihood that the DST would yield positive outcomes and improve care by for example, consolidating all relevant information in one place, providing access to reliable resources, and offering anytime accessibility. However, concerns were raised regarding the clarity of information provided within the DST, with a risk of misinterpretation that could lead to misunderstandings. Participants suggested that clinicians could help verify understanding after DST use. Effort Expectancy , or the perceived ease of use, was a notable theme. While many found accessing digital content online straightforward, some reported difficulty using applications due to health conditions. Concerns about equitable access were prominent, particularly for older patients, non-English speakers, and individuals with varying digital literacy or disabilities. Suggested improvements included multilingual support, provision of downloadable information and leaflets, and the use of simple language and visual aids. One participant raised the potential financial or logistical burden of requiring specific technology, such as iPads, suggesting hospital provision to mitigate this barrier. Clinicians emphasised the importance of user-friendly and universally accessible DSTs available in varied formats. While not explicitly stated as 'hedonic motivation', suggestions for user-specific content tailoring and ease of navigation hinted at a desire for a more enjoyable and satisfying user experience. Behavioural Intentions Attitude toward the Behaviour (TPB) was positive, strongly motivated by altruism, specifically the desire to protect family members, particularly children, by identifying genetic susceptibility and enabling preventative measures. Participants expressed a general positive attitude towards genetic testing, with some reporting no perceived risks. They also sought genetic testing to understand the aetiology of their own thoracic aortic dissection. While overall intentions for genetic screening were proactive, the lack of clear information regarding the pathway to testing indicated incomplete implementation plans. Social Influences The impact of Social Influence (UTAUT) and Subjective Norms (TPB) on screening decisions was evident. While most participants were open to recommending the DST to family members, there were mixed feelings about whether family members would accept genetic screening or use the DST themselves. Some family members declined testing due to concerns about its potential impact on employment and insurance, or a desire to avoid knowing their risk status. Clinicians highlighted the importance of professional endorsement to increase trust and acceptance of the DST among patients. Control and Accessibility Participants frequently expressed a sense of low Perceived Behavioural Contro l (TPB) for cascade screening. This was attributed to perceptions of the genetic screening process as difficult to navigate and a perceived knowledge deficit among General Practitioners (GPs) regarding TAD and genetic testing further hindered patient progression. Many participants reported actively pursuing access to screening and results themselves due to these barriers. They suggested that a DST would only be useful if existing barriers to genetic testing were addressed, as even motivated patients currently encountered difficulties. Facilitators included the Social Influence component of UTAUT, which regards healthcare professionals' effect on user conduct, and the Competence component of SDT, helped by information and aid. Clinicians recommended that the DST should be made convenient and easy to use through various delivery modes and personalised content, thereby enhancing users' perceived control. Furthermore, concerns about data privacy and the need for transparent data collection and usage practices were emphasised as crucial for decision-making and trust. They also suggested that the DST should be normalised and integrated into the genetic counselling process, reflecting professional norms around its usage. Clinicians generally foresaw DST adoption leading to better patient care, improved patient information, more efficient consultations, and more direct job roles. While acknowledging the time and instruction needed for DST skill, they saw the tool as largely fitting with current job duties. Key implementation methods identified by clinicians included clear plans for stakeholder recognition, management backing, full instruction, and smooth DST fitting into current care paths. Resolving differences in DST uptake across various NHS groups and confirming correct information use through good instruction were seen as vital. Adding elements such as a decision-making chatbot or encouraging family involvement were also seen as useful additions, strengthening Aid Conditions and Relatedness , respectively. Health Literacy Facilitating Conditions , UTAUT and low Autonomy , SDT were identified as barriers to uptake. Participants struggled to access accurate and useful information about genetic testing and TAD, indicating a general lack of clarity and prompting many to undertake their own research. This suggests a barrier to the "accessing" and "understanding" components of health literacy. While participants appreciated the convenience of having all information in one place via the DST, concerns about potential misinterpretation were raised. Despite these challenges, participants were largely engaged in evaluating the advantages and disadvantages of using a DST, highlighting its potential role in promoting health and prevention by providing information about genetic screening and helping them understand their risks ( Performance Expectancy , UTAUT). Clinicians also underlined the DST's role in enhancing understanding for patients and families by providing essential genetic testing information and aiding decision-making. They further noted concerns about disparities in DST adoption among different groups within the NHS, and highlighted the need for effective training to ensure accurate use and understanding of health information across diverse literacy levels. Discussion Main findings The thematic analyses revealed high Performance Expectancy, low Effort expectancy, and strongly positive Attitudes to Behaviour for cascade screening in TAD. However, important barriers to uptake included low Perceived Behavioural Control, poor Health literacy attributable to Facilitating Conditions, and low Autonomy. Social influences and Subjective norms, or unwillingness to discuss screening within families or participate were additional barriers. Key thematic considerations for the design of a DST to overcome these barriers stressed a varied approach, user-friendliness, access for different groups, strong data protection, and easy integration into existing care pathways, all of which add to patient connection (Relatedness), decision quality, and Perceived Behavioural Control. The DST's ability to consolidate comprehensive and reliable information in a single location, was particularly valued. Professional endorsement from healthcare providers was also deemed crucial. The unmet need for the implementation of interventions to improve uptake were demonstrated by the survey results. Screening in people with TAD (current Class I recommendation for cascade screening) including probands with a positive family history or age of presentation below 60 years were consistently under 50%. Reported involvement in shared decision-making was critically low, at 27.0% for probands and 13.0% for relatives. Implications for Clinical Practice First, clinicians require targeted training in narrative-based risk communication, moving beyond mere statistical presentation. This involves utilizing visual aids, empathetic dialogue, and plain language to bridge the observed communication mismatch between medical and lay understandings of risk. The focus should shift to considering the emotional and personal relevance of a diagnosis, ensuring information is not only accurate but also comprehensible and actionable for patients and their families. 18 , 19 Second, the low reported rate of shared decision-making highlights the need to integrate these processes into routine clinical encounters. This involves clearly presenting all reasonable screening options, including their benefits and potential harms, actively eliciting patient and family values and preferences, and ensuring that individuals fully understand their role in the decision-making process. 20 DST can significantly facilitate this by structuring information and guiding value clarification exercises. 21 Third, addressing barriers to cascade screening for TADS in primary care is essential. Clear, easy-to-navigate pathways for genetic testing, genetic counselling, and follow-up must be established and widely communicated, both within specialist centres and to primary care providers. Reducing waiting times and alleviating the burden on patients to actively "chase" information and appointments are essential steps to improve accessibility. 22 Four, care pathways must extend beyond the point of diagnosis or screening to include comprehensive post-screening information, clear long-term surveillance plans, and accessible psychological support for managing uncertainty or positive results. Resources considering non-clinical concerns, such as the potential impact of a diagnosis on employment and insurance, should also be readily available to alleviate patient anxieties. 23 DSTs are perceived as powerful instruments capable of bridging the gap between complex medical information and patient understanding, thereby promoting informed decision-making and empowering patients and families. These tools can standardize information delivery, ensure consistency across providers, and serve as a centralized platform for providing comprehensive and holistic resources. Strengths and Limitations The application of established behavioural theories provides a robust framework for interpreting the complex interaction of factors influencing engagement. The inclusion of perspectives from both patients/relatives and clinicians provides a comprehensive view of the challenges and opportunities within the cascade screening pathway. Furthermore, the survey provides corroboration of the qualitative findings. Finally, co-production with a national patient charity for aortic dissection survivors and their families ensured the research was patient-centred and clinically relevant. A limitation is the potential for selection bias in the qualitative samples, which included participants with higher health and digital literacy and proportion of White ethnicity than the UK average. This demographic profile may limit the generalizability of some findings to less engaged or diverse populations, suggesting that the identified barriers might be even more pronounced in underserved communities. The reliance on self-reported survey data is also a consideration. The study also did not provide specific examples of geographic variation in services (which are object of a separate analysis), or longitudinal follow-up data, which could offer further depth. Conclusion Engagement with screening is hindered by systemic, informational, and social challenges. This study highlights the complex network of factors shaping cardiovascular screening and suggests how these insights can be translated into tangible improvements in practice, research, and policy. Successful TAD prevention relies upon not only on increased clinical offer of interventions but also robust, sustained investment in enhanced clinician education and structured support for family communication. Both patients and clinicians see favourably the introduction of a DST to reach enhanced screening uptake and early detection, as well as a more equitable, autonomous, and patient-centred approach to TAD prevention. Declarations Conflict of Interest Statement: The authors declare no competing financial interests. Funding Disclosure: This research was supported by the National Institute for Health and Care Research (NIHR203302). The views expressed in this article are those of the authors and not necessarily those of the NIHR. Acknowledgements The Authors sincerely thank the members of Aortic Dissection Awareness UK & Ireland who generously participated in this research. Authors Contributions RGA, JMi, JMa, GO, and GJM drafted the overall work plan for the initiative. RCA, GO, AC, ML, HS, LS, GMc developed the online survey, ensured an adequate distribution among patients and assisted in the recruitment of participants for the interview and focus groups. JMi, JMa and RGA conducted the qualitative research procedures. RGA and JMi analysed the responses. RGA and GJM wrote the manuscript. All Authors provided essential conceptual feedback and read and approved the manuscript. References Mazzolai L, Teixido-Tura G, Lanzi S, et al. 2024 ESC Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) Endorsed by the European Association for Cardio-Thoracic Surgery (EACTS), the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN), and the European Society of Vascular Medicine (ESVM). European Heart Journal . 2024;45(36):3538-3700. doi:10.1093/eurheartj/ehae179 Isselbacher EM, Preventza O, Hamilton Black J, et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation . 2022;146(24):e334-e482. doi:10.1161/CIR.0000000000001106 Murphy GJ, Field M, Oo A. Defining best practice for thoracic aortic disease. Heart . 2014;100(12):897-899. doi:10.1136/heartjnl-2014-305811 Abbasciano RG, Mariscalco G, Barwell J, et al. Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study. Journal of the American Heart Association . 2022;11(8):e023741. doi:10.1161/JAHA.121.023741 Mariscalco G, Debiec R, Elefteriades JA, Samani NJ, Murphy GJ. Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease. Journal of the American Heart Association . 2018;7(15):e009302. doi:10.1161/JAHA.118.009302 Longoni M, Bhasin K, Ward A, et al. Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases. Front Cardiovasc Med . 2023;10. doi:10.3389/fcvm.2023.1272433 DeHart B, Morin P, Tucker J, et al. Abstract 14482: Low Utilization of Guideline-Recommended Genetic and Pharmacogenetic Testing Among Patients With Cardiovascular Conditions in the United States (US). Circulation . 2023;148(Suppl_1):A14482-A14482. doi:10.1161/circ.148.suppl_1.14482 Abbasciano RG, Barwell J, Sayers R, et al. Report of a Delphi exercise to inform the design of a research programme on screening for thoracic aortic disease. Trials . 2020;21(1):656. doi:10.1186/s13063-020-04562-1 O’Brien BC, Harris IB, Beckman TJ, Reed DA, Cook DA. Standards for reporting qualitative research: a synthesis of recommendations. Acad Med . 2014;89(9):1245-1251. doi:10.1097/ACM.0000000000000388 Venkatesh V, Morris MG, Davis GB, Davis FD. User Acceptance of Information Technology: Toward a Unified View. MIS Quarterly . 2003;27(3):425-478. doi:10.2307/30036540 Venkatesh V, Thong JYL, Xu X. Consumer Acceptance and Use of Information Technology: Extending the Unified Theory of Acceptance and Use of Technology. MIS Quarterly . 2012;36(1):157-178. doi:10.2307/41410412 Ajzen I. From Intentions to Actions: A Theory of Planned Behavior. In: Kuhl J, Beckmann J, eds. Action Control: From Cognition to Behavior . Springer; 1985:11-39. doi:10.1007/978-3-642-69746-3_2 Ajzen I. The theory of planned behavior. Organizational Behavior and Human Decision Processes . 1991;50(2):179-211. doi:10.1016/0749-5978(91)90020-T Deci EL, Ryan RM. Intrinsic Motivation and Self-Determination in Human Behavior . Springer US; 1985. doi:10.1007/978-1-4899-2271-7 Ryan RM, Deci EL. Self-determination theory and the facilitation of intrinsic motivation, social development, and well-being. Am Psychol . 2000;55(1):68-78. doi:10.1037//0003-066x.55.1.68 Sørensen K, Van den Broucke S, Fullam J, et al. Health literacy and public health: a systematic review and integration of definitions and models. BMC Public Health . 2012;12:80. doi:10.1186/1471-2458-12-80 Braun V, Clarke V. Using thematic analysis in psychology. Qualitative Research in Psychology . 2006;3(2):77-101. doi:10.1191/1478088706qp063oa Andersson EM, Johansson H, Nordin S, Lindvall K. Cognitive and emotional reactions to pictorial-based risk communication on subclinical atherosclerosis: a qualitative study within the VIPVIZA trial. Scandinavian Journal of Primary Health Care . Published online January 2, 2023. Accessed August 7, 2025. https://www.tandfonline.com/doi/abs/10.1080/02813432.2023.2178850 Chia AWY, Teo WLL, Acharyya S, Munro YL, Dalan R. Patient-physician communication of health and risk information in the management of cardiovascular diseases and diabetes: a systematic scoping review. BMC Med . 2025;23:96. doi:10.1186/s12916-025-03873-x Légaré F, Ratté S, Stacey D, et al. Interventions for improving the adoption of shared decision making by healthcare professionals - Légaré, F - 2010 | Cochrane Library. Accessed August 7, 2025. https://www.cochranelibrary.com/cdsr/doi/10.1002/14651858.CD006732.pub2/full?cookiesEnabled Stacey D, Lewis KB, Smith M, et al. Decision aids for people facing health treatment or screening decisions. Cochrane Database of Systematic Reviews . 2024;(1). doi:10.1002/14651858.CD001431.pub6 Milewicz D, Guo D, Hostetler E, Marin I, Pinard AC, Cecchi AC. Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care. J Cardiovasc Surg (Torino) . 2021;62(3):203-210. doi:10.23736/S0021-9509.21.11816-6 Devine C, Emery KR, Childers KK, Brown S, Gordon O, Roth SE. Experiences across a genetic screening and testing programme pathway: a qualitative study of mammogram patient perspectives. BMJ Open . 2024;14(10):e089884. doi:10.1136/bmjopen-2024-089884 Additional Declarations There is no duality of interest Supplementary Files SRQRChecklist.docx Supplementary Material Appendix 1 – SQRQ Checklist Cite Share Download PDF Status: Published Journal Publication published 02 Mar, 2026 Read the published version in European Journal of Human Genetics → Version 1 posted Editorial decision: revise 25 Nov, 2025 Review # 3 received at journal 23 Nov, 2025 Review # 2 received at journal 22 Nov, 2025 Review # 4 received at journal 21 Nov, 2025 Review # 1 received at journal 14 Nov, 2025 Reviewer # 4 agreed at journal 09 Nov, 2025 Reviewer # 3 agreed at journal 07 Nov, 2025 Reviewer # 2 agreed at journal 21 Oct, 2025 Reviewer # 1 agreed at journal 23 Sep, 2025 Reviewers invited by journal 18 Sep, 2025 Submission checks completed at journal 16 Sep, 2025 First submitted to journal 16 Sep, 2025 Unknown event 16 Sep, 2025 Editor assigned by journal 16 Sep, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-7629411","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Article","associatedPublications":[],"authors":[{"id":517133800,"identity":"50dbd05f-0a50-401f-ba75-bb945e5eee43","order_by":0,"name":"Riccardo Giuseppe 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Leicester","correspondingAuthor":false,"prefix":"","firstName":"John","middleName":"","lastName":"Maltby","suffix":""},{"id":517133821,"identity":"70edde53-9834-48f1-b319-5e739ba38a55","order_by":21,"name":"George Krasopoulos","email":"","orcid":"","institution":"John Radcliffe Hospital","correspondingAuthor":false,"prefix":"","firstName":"George","middleName":"","lastName":"Krasopoulos","suffix":""},{"id":517133822,"identity":"c7890e05-9e50-4c06-bb30-77e7fcb7f481","order_by":22,"name":"Duke Cameron","email":"","orcid":"","institution":"The Johns Hopkins Hospital","correspondingAuthor":false,"prefix":"","firstName":"Duke","middleName":"","lastName":"Cameron","suffix":""},{"id":517133823,"identity":"032a5dda-86ac-43f4-87db-f3bdb21f0b49","order_by":23,"name":"Aung Oo","email":"","orcid":"","institution":"Barts Heart Centre, St Bartholomew's 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07:35:17","extension":"xml","order_by":9,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":101781,"visible":true,"origin":"","legend":"","description":"","filename":"112725EJHG0structuring.xml","url":"https://assets-eu.researchsquare.com/files/rs-7629411/v1/3da8a48549d0b6995f8dd4ed.xml"},{"id":92478799,"identity":"59dafd79-6a31-45e8-9580-b09f9f91661e","added_by":"auto","created_at":"2025-09-30 07:35:17","extension":"html","order_by":10,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":119736,"visible":true,"origin":"","legend":"","description":"","filename":"earlyproof.html","url":"https://assets-eu.researchsquare.com/files/rs-7629411/v1/b41071632645f5e6732bc339.html"},{"id":92478789,"identity":"9b2af350-0723-43fc-8f03-dd0aacb8ae55","added_by":"auto","created_at":"2025-09-30 07:35:17","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":341098,"visible":true,"origin":"","legend":"\u003cp\u003eSummary of the demographic findings and key outcomes from the national survey.\u003c/p\u003e\n\u003cp\u003eThe chart summarises the age distribution (A), sex distribution (B), modalities with which participants learned about the screening implications connected to thoracic aortic disease (C) and key clinical outcomes (D) emerging from the national patient and relatives survey.\u003c/p\u003e","description":"","filename":"Figure1SurveySummary.png","url":"https://assets-eu.researchsquare.com/files/rs-7629411/v1/b6102b7c4b8c569f212588be.png"},{"id":103810855,"identity":"6c9c10d6-907a-4ab2-bda5-875415204533","added_by":"auto","created_at":"2026-03-03 08:14:37","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":1229431,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-7629411/v1/1c3a1436-91f1-4b66-b1fd-94e12a268dd8.pdf"},{"id":92478794,"identity":"7ba8b5a8-6d5e-40f9-8d4b-47fbadfc69b1","added_by":"auto","created_at":"2025-09-30 07:35:17","extension":"docx","order_by":1,"title":"","display":"","copyAsset":false,"role":"supplement","size":22925,"visible":true,"origin":"","legend":"\u003cp\u003e\u003cstrong\u003eSupplementary Material\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAppendix 1 – SQRQ Checklist\u003c/p\u003e","description":"","filename":"SRQRChecklist.docx","url":"https://assets-eu.researchsquare.com/files/rs-7629411/v1/b1f6b45e1ee225cff16a66f5.docx"}],"financialInterests":"There is no duality of interest","formattedTitle":"Patient and Family Perspectives on Cascade Screening for Thoracic Aortic Disease: A Mixed-Methods Evaluation","fulltext":[{"header":"Introduction","content":"\u003cp\u003eThoracic Aortic Disease (TAD) is often characterised by a prolonged latent phase of asymptomatic aneurysm formation that often results in acute aortic dissection, an event with a mortality rate exceeding 70%.\u003csup\u003e1,2\u003c/sup\u003e This condition affects approximately 1 in 2,000 individuals and is responsible for nearly 3,000 deaths annually in the UK, surpassing the mortality rate from road traffic accidents.\u003csup\u003e\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e\u003c/sup\u003e Over 20% of TAD cases have an identifiable genetic cause, with up to 30% of first- and second-degree relatives potentially carrying pathogenic variants or having asymptomatic aneurysms detectable through cascade screening.\u003csup\u003e\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e\u003c/sup\u003e\u003c/p\u003e\u003cp\u003eEarly detection of TAD through targeted cascade screening of the families of those affected reduces mortality, as it enables timely secondary prevention and early treatment.\u003csup\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e,\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u003c/sup\u003e International treatment guidelines recommend cascade screening involving genetic testing and aortic imaging for relatives of all people with Syndromic-TAD, with screening restricted to relatives of individuals with non-syndromic TAD (NS-TAD) when the proband (the first identified case in a family) is under 60 years of age or has a family history of the disease.\u003csup\u003e\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e,\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e\u003c/sup\u003e Despite these recommendations, the real-world availability and uptake of cascade screening is low and demonstrates regional variation.\u003csup\u003e\u003cspan additionalcitationids=\"CR6\" citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e\u003c/sup\u003e\u003c/p\u003e\u003cp\u003eQualitative research methods are used to understand and overcome barriers to implementation of healthcare interventions. The aims of this study were to use established behavioural science models to investigate patient, family, and clinical perspectives on TAD cascade screening, to identify key motivations, individual and institutional barriers, and potential facilitators for engagement. A specific objective was to inform the co-production of a Decision Support Tool (DST) that would enable informed, personalised, shared decisions about screening for probands and families.\u003c/p\u003e"},{"header":"Materials and Methods","content":"\u003cdiv id=\"Sec3\" class=\"Section2\"\u003e\u003ch2\u003eDesign\u003c/h2\u003e\u003cp\u003eThis study used a qualitative, applied health research design including semi-structured interviews and focus groups involving both clinicians and members of the public. A national survey administered to aortic dissection survivors (probands) and their relatives, providing a quantitative context to the lived experiences of TAD sufferers, their families, and clinicians caring for people with TAD identified by the qualitative work. The research followed the Standards for Reporting Qualitative Research (SQRQ) checklist\u003csup\u003e\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e\u003c/sup\u003e. [\u003cb\u003eSupplementary Materials \u0026ndash; Appendix 1\u003c/b\u003e] The study received ethics approval from the University of Leicester. Informed consent was obtained from all participants. Co-production involved a partnership with the national patient charity for aortic dissection survivors and the families of those with TAD; Aortic Dissection Awareness UK and Ireland (ADA-UKI).\u003c/p\u003e\u003c/div\u003e\n\u003ch3\u003eMethodological Framework\u003c/h3\u003e\n\u003cp\u003eThe interpretation and analysis of the qualitative data drew on four established behavioural science frameworks: the Unified Theory of Acceptance and Use of Technology (UTAUT and its expansion UTAUT2)\u003csup\u003e\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e,\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e\u003c/sup\u003e, the Theory of Planned Behaviour (TPB)\u003csup\u003e\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e,\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e\u003c/sup\u003e, Self-Determination Theory (SDT)\u003csup\u003e\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e,\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e\u003c/sup\u003e, and Health Literacy models\u003csup\u003e\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e\u003c/sup\u003e. Rather than relying on a single model, which risks providing only a partial or skewed account of behaviour, these four frameworks were applied together to capture different but interconnected processes relevant to technology adoption and health-related decision-making, linking social, cognitive, motivational, and informational dimensions. Each framework brings a distinct perspective, yet they often overlap in aspects of either perception, intention, motivation, and capability, reflecting the complex and dynamic ways in which these broader processes interact. The UTAUT and UTAUT2 examine technology adoption through factors such as performance and effort expectancy, social influence, facilitating conditions, hedonic motivation, price value, and habit, focusing on users\u0026rsquo; perceptions and interactions with technology. The TPB highlights how attitudes, subjective norms, and perceived behavioural control shape intentions and subsequent behaviour. The SDT explains why individuals engage in specific behaviours and the extent to which these are self-determined, emphasising the importance of autonomy, competence, and relatedness in fostering intrinsic motivation, well-being, and engagement. Finally, Health Literacy models foreground individuals\u0026rsquo; ability to access, understand, evaluate, and use health information, which is crucial for making informed health decisions, particularly in technology use. Taken together, these frameworks provide a more comprehensive and multi-layered interpretation of the qualitative data than any single model alone.\u003c/p\u003e\n\u003ch3\u003eParticipants\u003c/h3\u003e\n\u003cp\u003eThe target population for this research was individuals at risk of non-syndromic Thoracic Aortic Disease (NS-TAD), specifically aortic dissection survivors and their relatives and caregivers. Clinicians involved in providing care to these patients were also approached.\u003c/p\u003e\n\u003ch3\u003eResearch Procedures\u003c/h3\u003e\n\u003cp\u003eA digital survey, consisting of 60 questions, was developed and administered via an online platform (SurveyMonkey, Symphony Technology Group, San Mateo, California) to members of Aortic Dissection Awareness UK \u0026amp; Ireland. A team of clinicians and patient-as-researchers produced the first draft of the survey, which underwent subsequent rounds of refinements in both contents and structures with public involvement. Its primary purpose was to provide quantitative context on demographics, genetic testing uptake, and reported involvement in shared decision-making among individuals at risk of TAD, and to identify barriers to cascade screening to inform the design of a DST to support screening decisions. The survey was active for seven months, from April to November 2022.\u003c/p\u003e\u003cp\u003eTwo rounds of focus groups were conducted between October 2022 and May 2023. The first round evaluated participants' opinions on the design and potential utility of a DST for cascade screening, building upon initial responses gathered from the national survey. The second round explored individual and institutional barriers to DST use, with a particular emphasis on challenges related to technology adoption. Sessions lasted approximately 90 minutes and were conducted using video conferencing to allow for broader geographical representation. To complement the patient and public perspectives, clinicians involved in TAD management were invited to participate in focused interviews. These interviews explored the same questions as the focus groups, specifically aiming to identify and discuss strategies for overcoming existing barriers to screening and DST adoption. Questionnaires were created for the clinicians and the patients and family members on their opinions on overcoming the barriers identified and all participants were invited to complete them. Data processing prior and during the analysis included transcription with full anonymization and de-identification of excerpts, and general information about the group\u0026rsquo;s compositions were recorded.\u003c/p\u003e\n\u003ch3\u003eAnalysis\u003c/h3\u003e\n\u003cp\u003e\u003cstrong\u003eAnalysis\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eA systematic thematic analysis approach was applied to the qualitative data to identify, analyse, and report recurring patterns and themes.\u003csup\u003e17\u003c/sup\u003e Initial coding was conducted independently by two researchers, with disagreements resolved through discussion and consensus. Themes were developed inductively from the data while being informed by existing literature on genetic testing decision-making. Survey data were analysed descriptively, with findings integrated with qualitative themes to provide a comprehensive understanding of the phenomenon. To guide the interpretation of qualitative data we considered the aforementioned theoretical contexts and therefore the analysis specifically looked for:\u003c/p\u003e\n\u003cp\u003e•\u0026nbsp; Perceptions and Usability of Technology: How participants viewed the ease of use and usefulness of genetic screening technologies and DST.\u003c/p\u003e\n\u003cp\u003e•\u0026nbsp; Behavioural Intentions: Attitudes towards genetic screening, including perceived benefits and risks.\u003c/p\u003e\n\u003cp\u003e•\u0026nbsp; Social Influences: The impact of societal norms and opinions of others on participants' decisions.\u003c/p\u003e\n\u003cp\u003e•\u0026nbsp; Control and Accessibility: Participants' perceptions of their ability to access and effectively use genetic screening technologies.\u003c/p\u003e\n\u003cp\u003e• Health Literacy Levels: How well participants understood genetic screening information and its implications.\u003c/p\u003e"},{"header":"Results","content":"\u003cdiv id=\"Sec9\" class=\"Section2\"\u003e\u003ch2\u003eSurvey Findings\u003c/h2\u003e\u003cp\u003eThe survey gathered a total of 242 responses, including 71 from aortic dissection survivors (probands) and 171 from their relatives. The demographic characteristics of these participants are detailed in Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e, and in Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e along with the key findings from the survey. These participants represented diverse geographic regions across the UK.\u003c/p\u003e\u003cp\u003e\u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e\u003ccaption language=\"En\"\u003e\u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e\u003cdiv class=\"CaptionContent\"\u003e\u003cp\u003eDemographics of National Patient Survey Participants\u003c/p\u003e\u003c/div\u003e\u003c/caption\u003e\u003ccolgroup cols=\"3\"\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e\u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e\u003cthead\u003e\u003ctr\u003e\u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e\u003cth align=\"left\" colname=\"c2\"\u003e\u003cp\u003e\u003cem\u003ePatients\u003c/em\u003e\u003c/p\u003e\u003c/th\u003e\u003cth align=\"left\" colname=\"c3\"\u003e\u003cp\u003e\u003cem\u003eRelatives\u003c/em\u003e\u003c/p\u003e\u003c/th\u003e\u003c/tr\u003e\u003c/thead\u003e\u003ctbody\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eNumber\u003c/b\u003e\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e71\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e171\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eAge\u003c/b\u003e (Years) \u003cb\u003eMean\u003c/b\u003e (IQR)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e58.4 (46.0\u0026ndash;70.8)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e42.5 (31.3\u0026ndash;57.6)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eAge\u003c/b\u003e (Years) \u003cb\u003ecategorised\u003c/b\u003e (%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eUnder 20\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e0 (0)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e11 (6.5)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e20\u0026ndash;30\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e0 (0)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e28 (16.5)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e30\u0026ndash;40\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e2 (2.8)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e41 (24.1)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e40\u0026ndash;50\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e11 (15.5)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e29 (17.1)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e50\u0026ndash;60\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e29 (40.8)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e28 (16.5)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e60\u0026ndash;70\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e22 (31.0)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e22 (12.9)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e70+\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e7 (9.9)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e11 (6.5)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eSex\u003c/b\u003e (%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMale\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e36 (50.7)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e68 (39.8)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eFemale\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e35 (49.3)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e103 (60.2)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eEthnicity\u003c/b\u003e (%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eWhite\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e69 (97.2)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e165 (95.9)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eBlack\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e1 (1.4)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e1 (0.6)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eAsian\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e0 (0.0)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e1 (0.6)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eChinese\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e1 (1.4)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e0 (0.0)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMixed/Other\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e0 (0)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e5 (2.9)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eRegion\u003c/b\u003e (%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eCymru/Wales\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e4 (5.9)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e7 (4.1)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eEast\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e5 (7.4)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e8 (4.7)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eEast Midlands\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e7 (10.3)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e17 (10.1)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eLondon\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e7 (10.3)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e18 (10.7)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNorth East\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e2 (2.9)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e6 (3.6)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNorth west\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e4 (5.9)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e19 (11.2)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eScotland\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e2 (2.9)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e4 (2.4)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eSouth East\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e13 (19.1)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e7 (4.1)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eSouth West\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e13 (19.1)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e35 (20.7)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eWest Midlands\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e3 (4.4)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e24 (14.2)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eYorkshire and the Humber\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e8 (11.8)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e11 (6.5)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eTime since aortic dissection\u003c/b\u003e (%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eOne year\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e17 (23.9)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003ena\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eTwo years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e7 (9.9)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003ena\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eThree years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e12 (16.9)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003ena\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eMore than three years\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e35 (49.3)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003ena\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eRelation to person with dissection\u003c/b\u003e (%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eFirst degree\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003ena\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e154 (89.0)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eSecond degree\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003ena\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e16 (9.3)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eOther\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003ena\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e3 (1.7)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eDiagnosed with syndromic condition\u003c/b\u003e (%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eYes\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e6 (8.5)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e5 (3.1)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNo\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e65 (91.5)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e159 (97.0)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eHad a relative diagnosed with syndromic condition\u003c/b\u003e (%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eYes\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e6 (8.5)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003ena\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNo\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e58 (81.7)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003ena\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eDon\u0026rsquo;t know\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e7 (9.9)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003ena\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eReceived genetic testing\u003c/b\u003e (%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNo, but was offered it\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e3 (2.9)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e3 (1.9)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNo, wasn\u0026rsquo;t offered it\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e34 (49.3)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e120 (77.4)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eYes\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003e33 (47.8)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e32 (20.7)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003e\u003cb\u003eReceived genetics appointment\u003c/b\u003e (%)\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eYes\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003ena\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e15 (9.2)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNo\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003ena\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e143 (87.7)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003ctr\u003e\u003ctd align=\"left\" colname=\"c1\"\u003e\u003cp\u003eNot sure/ Don\u0026rsquo;t want to say\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c2\"\u003e\u003cp\u003ena\u003c/p\u003e\u003c/td\u003e\u003ctd align=\"left\" colname=\"c3\"\u003e\u003cp\u003e5 (3.1)\u003c/p\u003e\u003c/td\u003e\u003c/tr\u003e\u003c/tbody\u003e\u003c/colgroup\u003e\u003ctfoot\u003e\u003ctr\u003e\u003ctd colspan=\"3\"\u003eDemographics of all respondents to the national survey; \u003cem\u003ena \u0026ndash; Not Applicable; SD \u0026ndash; Standard Deviation\u003c/em\u003e.\u003c/td\u003e\u003c/tr\u003e\u003c/tfoot\u003e\u003c/table\u003e\u003c/div\u003e\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eThe mean age of probands was 58.4 years (IQR 46.0\u0026ndash;70.8). The age distribution showed that 11/71 (15.5%) were aged 40\u0026ndash;50 years, 29/71 (40.8%) were 50\u0026ndash;60 years, 22/71 (31.0%) were 60\u0026ndash;70 years, and 11/171 (6.5%) were above 70 years. The sex distribution was nearly balanced, with 36/71 (50.7%) male and 35/71 (49.3%) female participants.\u003c/p\u003e\u003cp\u003e The median age of relatives was younger at 42.5 years (IQR 31.25\u0026ndash;57.6). The age distribution showed that 11/171 (6.5%) were below the age of 20, 28/171 (16.5%) were aged 20\u0026ndash;30 years, 41/171 (24.1%) were 30\u0026ndash;40 years, 29/171 (17.1%) were 40\u0026ndash;50 years,, 28/171 (16.5%) were 50\u0026ndash;60 years, 22/171 (12.9%) were 60\u0026ndash;70 years, and 11/171 (6.5%) were above 70 years. Females constituted a majority of the relatives at 103/171 (60.2%), compared to 68/171 (39.8%) males. The majority, 154/171 (89.0%) were first-degree relatives of probands. Only 9/272 (3.3%) respondents were from non-white backgrounds.\u003c/p\u003e\u003cp\u003eThe survey demonstrated that 33/70 (47%) of aortic dissection survivors who responded had undergone genetic testing, including 10/22 (45%) with a positive family history of TAD. In first- and second-degree relatives, 66/150 (44%) and 32/155 (21%) of respondents were offered imaging or cascade genetic testing respectively. Thirty-three out of 69 (48%) dissection survivors with a positive family history of TAD had received genetic testing. Out of 42 patients who were under 60 years old when completing the survey 24(57.1%) received genetics screening.\u003c/p\u003e\u003cp\u003eSixty-six out of 150 (44%) and 32/155 (21%) of the first- and second-degree relatives of TAD sufferers who responded were offered imaging or cascade genetic testing respectively. When asked if anyone in their family was diagnosed with TAD, 32/149 (21%) replied that other members of their family were found to have an undiagnosed aneurysm via imaging, and 20/147 (13.6%) replied that there was a positive genetic test in their family. Four out of 70 (6%) dissection survivors, and 35/150 (23.3%) relatives who responded had a second family member who went on to have an aortic dissection. Only 19/71 (27%) probands and 20/155 (13%) relatives in our survey reported that they were involved in shared decisions about their care.\u003c/p\u003e\u003cp\u003eThe survey identified the ongoing risk within families; 4/70 (6%) survivors and 35/150 (23.3%) relatives had experienced a second family member suffering aortic dissection.\u003c/p\u003e\u003c/div\u003e\n\u003ch3\u003eThematic Analysis\u003c/h3\u003e\n\u003cp\u003eNineteen participants, including aortic dissection survivors and their family members, engaged in five focus group sessions. Among those who provided demographic information, 4/12 (42%) were female and 5/12 (83%) were of White ethnicity, 1 (8%) was from Asian and 1 (8%) was from Caribbean backgrounds. Participants were younger (mean age: 58.4) than the UK average TAD patient population (73.0, IQR 63.0\u0026ndash;81.0). Four clinicians involved in the management of thoracic aortic disease participated in focused interviews, and the analysis was guided by the Unified Theory of Acceptance and Use of Technology, the Theory of Planned Behaviour, Self-Determination Theory, and Health Literacy models.\u003c/p\u003e\u003cdiv id=\"Sec11\" class=\"Section2\"\u003e\u003ch2\u003ePerceptions and Usability of Technology\u003c/h2\u003e\u003cp\u003e\u003cem\u003ePerformance Expectancy\u003c/em\u003e was high. Participants generally held positive attitudes towards the use of a DST with technology, expressing a high likelihood that the DST would yield positive outcomes and improve care by for example, consolidating all relevant information in one place, providing access to reliable resources, and offering anytime accessibility. However, concerns were raised regarding the clarity of information provided within the DST, with a risk of misinterpretation that could lead to misunderstandings. Participants suggested that clinicians could help verify understanding after DST use.\u003c/p\u003e\u003cp\u003e\u003cem\u003eEffort Expectancy\u003c/em\u003e, or the perceived ease of use, was a notable theme. While many found accessing digital content online straightforward, some reported difficulty using applications due to health conditions. Concerns about equitable access were prominent, particularly for older patients, non-English speakers, and individuals with varying digital literacy or disabilities. Suggested improvements included multilingual support, provision of downloadable information and leaflets, and the use of simple language and visual aids. One participant raised the potential financial or logistical burden of requiring specific technology, such as iPads, suggesting hospital provision to mitigate this barrier. Clinicians emphasised the importance of user-friendly and universally accessible DSTs available in varied formats. While not explicitly stated as 'hedonic motivation', suggestions for user-specific content tailoring and ease of navigation hinted at a desire for a more enjoyable and satisfying user experience.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec12\" class=\"Section2\"\u003e\u003ch2\u003eBehavioural Intentions\u003c/h2\u003e\u003cp\u003e\u003cem\u003eAttitude toward the Behaviour\u003c/em\u003e (TPB) was positive, strongly motivated by altruism, specifically the desire to protect family members, particularly children, by identifying genetic susceptibility and enabling preventative measures. Participants expressed a general positive attitude towards genetic testing, with some reporting no perceived risks. They also sought genetic testing to understand the aetiology of their own thoracic aortic dissection. While overall intentions for genetic screening were proactive, the lack of clear information regarding the pathway to testing indicated incomplete implementation plans.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec13\" class=\"Section2\"\u003e\u003ch2\u003eSocial Influences\u003c/h2\u003e\u003cp\u003eThe \u003cem\u003eimpact of Social Influence\u003c/em\u003e (UTAUT) and \u003cem\u003eSubjective Norms\u003c/em\u003e (TPB) on screening decisions was evident. While most participants were open to recommending the DST to family members, there were mixed feelings about whether family members would accept genetic screening or use the DST themselves. Some family members declined testing due to concerns about its potential impact on employment and insurance, or a desire to avoid knowing their risk status. Clinicians highlighted the importance of professional endorsement to increase trust and acceptance of the DST among patients.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec14\" class=\"Section2\"\u003e\u003ch2\u003eControl and Accessibility\u003c/h2\u003e\u003cp\u003eParticipants frequently expressed a sense of low \u003cem\u003ePerceived Behavioural Contro\u003c/em\u003el (TPB) for cascade screening. This was attributed to perceptions of the genetic screening process as difficult to navigate and a perceived knowledge deficit among General Practitioners (GPs) regarding TAD and genetic testing further hindered patient progression. Many participants reported actively pursuing access to screening and results themselves due to these barriers. They suggested that a DST would only be useful if existing barriers to genetic testing were addressed, as even motivated patients currently encountered difficulties.\u003c/p\u003e\u003cp\u003eFacilitators included the \u003cem\u003eSocial Influence\u003c/em\u003e component of UTAUT, which regards healthcare professionals' effect on user conduct, and the \u003cem\u003eCompetence\u003c/em\u003e component of SDT, helped by information and aid. Clinicians recommended that the DST should be made convenient and easy to use through various delivery modes and personalised content, thereby enhancing users' perceived control. Furthermore, concerns about data privacy and the need for transparent data collection and usage practices were emphasised as crucial for decision-making and trust. They also suggested that the DST should be normalised and integrated into the genetic counselling process, reflecting professional norms around its usage. Clinicians generally foresaw DST adoption leading to better patient care, improved patient information, more efficient consultations, and more direct job roles. While acknowledging the time and instruction needed for DST skill, they saw the tool as largely fitting with current job duties. Key implementation methods identified by clinicians included clear plans for stakeholder recognition, management backing, full instruction, and smooth DST fitting into current care paths. Resolving differences in DST uptake across various NHS groups and confirming correct information use through good instruction were seen as vital. Adding elements such as a decision-making chatbot or encouraging family involvement were also seen as useful additions, strengthening \u003cem\u003eAid Conditions\u003c/em\u003e and \u003cem\u003eRelatedness\u003c/em\u003e, respectively.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec15\" class=\"Section2\"\u003e\u003ch2\u003eHealth Literacy\u003c/h2\u003e\u003cp\u003e\u003cem\u003eFacilitating Conditions\u003c/em\u003e, UTAUT and low \u003cem\u003eAutonomy\u003c/em\u003e, SDT were identified as barriers to uptake. Participants struggled to access accurate and useful information about genetic testing and TAD, indicating a general lack of clarity and prompting many to undertake their own research. This suggests a barrier to the \"accessing\" and \"understanding\" components of health literacy. While participants appreciated the convenience of having all information in one place via the DST, concerns about potential misinterpretation were raised. Despite these challenges, participants were largely engaged in evaluating the advantages and disadvantages of using a DST, highlighting its potential role in promoting health and prevention by providing information about genetic screening and helping them understand their risks (\u003cem\u003ePerformance Expectancy\u003c/em\u003e, UTAUT). Clinicians also underlined the DST's role in enhancing understanding for patients and families by providing essential genetic testing information and aiding decision-making. They further noted concerns about disparities in DST adoption among different groups within the NHS, and highlighted the need for effective training to ensure accurate use and understanding of health information across diverse literacy levels.\u003c/p\u003e\u003c/div\u003e"},{"header":"Discussion","content":"\u003cdiv id=\"Sec17\" class=\"Section2\"\u003e\u003ch2\u003eMain findings\u003c/h2\u003e\u003cp\u003eThe thematic analyses revealed high Performance Expectancy, low Effort expectancy, and strongly positive Attitudes to Behaviour for cascade screening in TAD. However, important barriers to uptake included low Perceived Behavioural Control, poor Health literacy attributable to Facilitating Conditions, and low Autonomy. Social influences and Subjective norms, or unwillingness to discuss screening within families or participate were additional barriers.\u003c/p\u003e\u003cp\u003eKey thematic considerations for the design of a DST to overcome these barriers stressed a varied approach, user-friendliness, access for different groups, strong data protection, and easy integration into existing care pathways, all of which add to patient connection (Relatedness), decision quality, and Perceived Behavioural Control. The DST's ability to consolidate comprehensive and reliable information in a single location, was particularly valued. Professional endorsement from healthcare providers was also deemed crucial.\u003c/p\u003e\u003cp\u003eThe unmet need for the implementation of interventions to improve uptake were demonstrated by the survey results. Screening in people with TAD (current Class I recommendation for cascade screening) including probands with a positive family history or age of presentation below 60 years were consistently under 50%. Reported involvement in shared decision-making was critically low, at 27.0% for probands and 13.0% for relatives.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec18\" class=\"Section2\"\u003e\u003ch2\u003eImplications for Clinical Practice\u003c/h2\u003e\u003cp\u003eFirst, clinicians require targeted training in narrative-based risk communication, moving beyond mere statistical presentation. This involves utilizing visual aids, empathetic dialogue, and plain language to bridge the observed communication mismatch between medical and lay understandings of risk. The focus should shift to considering the emotional and personal relevance of a diagnosis, ensuring information is not only accurate but also comprehensible and actionable for patients and their families.\u003csup\u003e\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e,\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e\u003c/sup\u003e\u003c/p\u003e\u003cp\u003eSecond, the low reported rate of shared decision-making highlights the need to integrate these processes into routine clinical encounters. This involves clearly presenting all reasonable screening options, including their benefits and potential harms, actively eliciting patient and family values and preferences, and ensuring that individuals fully understand their role in the decision-making process.\u003csup\u003e\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e\u003c/sup\u003e DST can significantly facilitate this by structuring information and guiding value clarification exercises.\u003csup\u003e\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e\u003c/sup\u003e\u003c/p\u003e\u003cp\u003eThird, addressing barriers to cascade screening for TADS in primary care is essential. Clear, easy-to-navigate pathways for genetic testing, genetic counselling, and follow-up must be established and widely communicated, both within specialist centres and to primary care providers. Reducing waiting times and alleviating the burden on patients to actively \"chase\" information and appointments are essential steps to improve accessibility.\u003csup\u003e\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e\u003c/sup\u003e\u003c/p\u003e\u003cp\u003eFour, care pathways must extend beyond the point of diagnosis or screening to include comprehensive post-screening information, clear long-term surveillance plans, and accessible psychological support for managing uncertainty or positive results. Resources considering non-clinical concerns, such as the potential impact of a diagnosis on employment and insurance, should also be readily available to alleviate patient anxieties.\u003csup\u003e\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e\u003c/sup\u003e DSTs are perceived as powerful instruments capable of bridging the gap between complex medical information and patient understanding, thereby promoting informed decision-making and empowering patients and families. These tools can standardize information delivery, ensure consistency across providers, and serve as a centralized platform for providing comprehensive and holistic resources.\u003c/p\u003e\u003c/div\u003e\u003cdiv id=\"Sec19\" class=\"Section2\"\u003e\u003ch2\u003eStrengths and Limitations\u003c/h2\u003e\u003cp\u003eThe application of established behavioural theories provides a robust framework for interpreting the complex interaction of factors influencing engagement. The inclusion of perspectives from both patients/relatives and clinicians provides a comprehensive view of the challenges and opportunities within the cascade screening pathway. Furthermore, the survey provides corroboration of the qualitative findings. Finally, co-production with a national patient charity for aortic dissection survivors and their families ensured the research was patient-centred and clinically relevant.\u003c/p\u003e\u003cp\u003eA limitation is the potential for selection bias in the qualitative samples, which included participants with higher health and digital literacy and proportion of White ethnicity than the UK average. This demographic profile may limit the generalizability of some findings to less engaged or diverse populations, suggesting that the identified barriers might be even more pronounced in underserved communities. The reliance on self-reported survey data is also a consideration. The study also did not provide specific examples of geographic variation in services (which are object of a separate analysis), or longitudinal follow-up data, which could offer further depth.\u003c/p\u003e\u003c/div\u003e"},{"header":"Conclusion","content":"\u003cp\u003eEngagement with screening is hindered by systemic, informational, and social challenges.\u003c/p\u003e\u003cp\u003eThis study highlights the complex network of factors shaping cardiovascular screening and suggests how these insights can be translated into tangible improvements in practice, research, and policy. Successful TAD prevention relies upon not only on increased clinical offer of interventions but also robust, sustained investment in enhanced clinician education and structured support for family communication. Both patients and clinicians see favourably the introduction of a DST to reach enhanced screening uptake and early detection, as well as a more equitable, autonomous, and patient-centred approach to TAD prevention.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eConflict of Interest Statement:\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare no competing financial interests.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding Disclosure:\u0026nbsp;\u003c/strong\u003eThis research was supported by the National Institute for Health and Care Research (NIHR203302). The views expressed in this article are those of the authors and not necessarily those of the NIHR.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAcknowledgements\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe Authors sincerely thank the members of Aortic Dissection Awareness UK \u0026amp; Ireland who generously participated in this research.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthors Contributions\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eRGA, JMi, JMa, GO, and GJM drafted the overall work plan for the initiative. RCA, GO, AC, ML, HS, LS, GMc developed the online survey, ensured an adequate distribution among patients and assisted in the recruitment of participants for the interview and focus groups. JMi, JMa and RGA conducted the qualitative research procedures. RGA and JMi analysed the responses. RGA and GJM wrote the manuscript. All Authors provided essential conceptual feedback and read and approved the manuscript.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eMazzolai L, Teixido-Tura G, Lanzi S, et al. 2024 ESC Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) Endorsed by the European Association for Cardio-Thoracic Surgery (EACTS), the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN), and the European Society of Vascular Medicine (ESVM). \u003cem\u003eEuropean Heart Journal\u003c/em\u003e. 2024;45(36):3538-3700. doi:10.1093/eurheartj/ehae179\u003c/li\u003e\n\u003cli\u003eIsselbacher EM, Preventza O, Hamilton Black J, et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. \u003cem\u003eCirculation\u003c/em\u003e. 2022;146(24):e334-e482. doi:10.1161/CIR.0000000000001106\u003c/li\u003e\n\u003cli\u003eMurphy GJ, Field M, Oo A. Defining best practice for thoracic aortic disease. \u003cem\u003eHeart\u003c/em\u003e. 2014;100(12):897-899. doi:10.1136/heartjnl-2014-305811\u003c/li\u003e\n\u003cli\u003eAbbasciano RG, Mariscalco G, Barwell J, et al. Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study. \u003cem\u003eJournal of the American Heart Association\u003c/em\u003e. 2022;11(8):e023741. doi:10.1161/JAHA.121.023741\u003c/li\u003e\n\u003cli\u003eMariscalco G, Debiec R, Elefteriades JA, Samani NJ, Murphy GJ. Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease. \u003cem\u003eJournal of the American Heart Association\u003c/em\u003e. 2018;7(15):e009302. doi:10.1161/JAHA.118.009302\u003c/li\u003e\n\u003cli\u003eLongoni M, Bhasin K, Ward A, et al. Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases. \u003cem\u003eFront Cardiovasc Med\u003c/em\u003e. 2023;10. doi:10.3389/fcvm.2023.1272433\u003c/li\u003e\n\u003cli\u003eDeHart B, Morin P, Tucker J, et al. Abstract 14482: Low Utilization of Guideline-Recommended Genetic and Pharmacogenetic Testing Among Patients With Cardiovascular Conditions in the United States (US). \u003cem\u003eCirculation\u003c/em\u003e. 2023;148(Suppl_1):A14482-A14482. doi:10.1161/circ.148.suppl_1.14482\u003c/li\u003e\n\u003cli\u003eAbbasciano RG, Barwell J, Sayers R, et al. Report of a Delphi exercise to inform the design of a research programme on screening for thoracic aortic disease. \u003cem\u003eTrials\u003c/em\u003e. 2020;21(1):656. doi:10.1186/s13063-020-04562-1\u003c/li\u003e\n\u003cli\u003eO\u0026rsquo;Brien BC, Harris IB, Beckman TJ, Reed DA, Cook DA. Standards for reporting qualitative research: a synthesis of recommendations. \u003cem\u003eAcad Med\u003c/em\u003e. 2014;89(9):1245-1251. doi:10.1097/ACM.0000000000000388\u003c/li\u003e\n\u003cli\u003eVenkatesh V, Morris MG, Davis GB, Davis FD. User Acceptance of Information Technology: Toward a Unified View. \u003cem\u003eMIS Quarterly\u003c/em\u003e. 2003;27(3):425-478. doi:10.2307/30036540\u003c/li\u003e\n\u003cli\u003eVenkatesh V, Thong JYL, Xu X. Consumer Acceptance and Use of Information Technology: Extending the Unified Theory of Acceptance and Use of Technology. \u003cem\u003eMIS Quarterly\u003c/em\u003e. 2012;36(1):157-178. doi:10.2307/41410412\u003c/li\u003e\n\u003cli\u003eAjzen I. From Intentions to Actions: A Theory of Planned Behavior. In: Kuhl J, Beckmann J, eds. \u003cem\u003eAction Control: From Cognition to Behavior\u003c/em\u003e. Springer; 1985:11-39. doi:10.1007/978-3-642-69746-3_2\u003c/li\u003e\n\u003cli\u003eAjzen I. The theory of planned behavior. \u003cem\u003eOrganizational Behavior and Human Decision Processes\u003c/em\u003e. 1991;50(2):179-211. doi:10.1016/0749-5978(91)90020-T\u003c/li\u003e\n\u003cli\u003eDeci EL, Ryan RM. \u003cem\u003eIntrinsic Motivation and Self-Determination in Human Behavior\u003c/em\u003e. Springer US; 1985. doi:10.1007/978-1-4899-2271-7\u003c/li\u003e\n\u003cli\u003eRyan RM, Deci EL. Self-determination theory and the facilitation of intrinsic motivation, social development, and well-being. \u003cem\u003eAm Psychol\u003c/em\u003e. 2000;55(1):68-78. doi:10.1037//0003-066x.55.1.68\u003c/li\u003e\n\u003cli\u003eS\u0026oslash;rensen K, Van den Broucke S, Fullam J, et al. Health literacy and public health: a systematic review and integration of definitions and models. \u003cem\u003eBMC Public Health\u003c/em\u003e. 2012;12:80. doi:10.1186/1471-2458-12-80\u003c/li\u003e\n\u003cli\u003eBraun V, Clarke V. Using thematic analysis in psychology. \u003cem\u003eQualitative Research in Psychology\u003c/em\u003e. 2006;3(2):77-101. doi:10.1191/1478088706qp063oa\u003c/li\u003e\n\u003cli\u003eAndersson EM, Johansson H, Nordin S, Lindvall K. Cognitive and emotional reactions to pictorial-based risk communication on subclinical atherosclerosis: a qualitative study within the VIPVIZA trial. \u003cem\u003eScandinavian Journal of Primary Health Care\u003c/em\u003e. Published online January 2, 2023. Accessed August 7, 2025. https://www.tandfonline.com/doi/abs/10.1080/02813432.2023.2178850\u003c/li\u003e\n\u003cli\u003eChia AWY, Teo WLL, Acharyya S, Munro YL, Dalan R. Patient-physician communication of health and risk information in the management of cardiovascular diseases and diabetes: a systematic scoping review. \u003cem\u003eBMC Med\u003c/em\u003e. 2025;23:96. doi:10.1186/s12916-025-03873-x\u003c/li\u003e\n\u003cli\u003eL\u0026eacute;gar\u0026eacute; F, Ratt\u0026eacute; S, Stacey D, et al. Interventions for improving the adoption of shared decision making by healthcare professionals - L\u0026eacute;gar\u0026eacute;, F - 2010 | Cochrane Library. Accessed August 7, 2025. https://www.cochranelibrary.com/cdsr/doi/10.1002/14651858.CD006732.pub2/full?cookiesEnabled\u003c/li\u003e\n\u003cli\u003eStacey D, Lewis KB, Smith M, et al. Decision aids for people facing health treatment or screening decisions. \u003cem\u003eCochrane Database of Systematic Reviews\u003c/em\u003e. 2024;(1). doi:10.1002/14651858.CD001431.pub6\u003c/li\u003e\n\u003cli\u003eMilewicz D, Guo D, Hostetler E, Marin I, Pinard AC, Cecchi AC. Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care. \u003cem\u003eJ Cardiovasc Surg (Torino)\u003c/em\u003e. 2021;62(3):203-210. doi:10.23736/S0021-9509.21.11816-6\u003c/li\u003e\n\u003cli\u003eDevine C, Emery KR, Childers KK, Brown S, Gordon O, Roth SE. Experiences across a genetic screening and testing programme pathway: a qualitative study of mammogram patient perspectives. \u003cem\u003eBMJ Open\u003c/em\u003e. 2024;14(10):e089884. doi:10.1136/bmjopen-2024-089884\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"european-journal-of-human-genetics","isNatureJournal":false,"hasQc":false,"allowDirectSubmit":false,"externalIdentity":"ejhg","sideBox":"Learn more about [European Journal of Human Genetics](http://www.nature.com/ejhg/)","snPcode":"41431","submissionUrl":"https://mts-ejhg.nature.com/cgi-bin/main.plex","title":"European Journal of Human Genetics","twitterHandle":"@ejhg_journal","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"ejp","reportingPortfolio":"Nature AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"Thoracic Aortic Disease, Cascade Screening, Genetic Testing, Shared Decision-Making, Patient Experience, Qualitative Research","lastPublishedDoi":"10.21203/rs.3.rs-7629411/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-7629411/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cb\u003eBackground\u003c/b\u003e\u003c/p\u003e\u003cp\u003eCascade 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.\u003c/p\u003e\u003cp\u003e\u003cb\u003eMethods\u003c/b\u003e\u003c/p\u003e\u003cp\u003eWe performed clinician and public focus groups (n\u0026thinsp;=\u0026thinsp;19 participants across 5 sessions), semi-structured interviews (4 clinicians), and a national patient/relative survey (n\u0026thinsp;=\u0026thinsp;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.\u003c/p\u003e\u003cp\u003e\u003cb\u003eResults\u003c/b\u003e\u003c/p\u003e\u003cp\u003e Qualitative analysis of focus groups, interviews, and a national patient/relative survey (n\u0026thinsp;=\u0026thinsp;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, directly addressing observed psychological and practical burdens.\u003c/p\u003e\u003cp\u003e\u003cb\u003eConclusions\u003c/b\u003e\u003c/p\u003e\u003cp\u003ePatient 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\u003c/p\u003e","manuscriptTitle":"Patient and Family Perspectives on Cascade Screening for Thoracic Aortic Disease: A Mixed-Methods Evaluation","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-09-30 07:35:12","doi":"10.21203/rs.3.rs-7629411/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"revise","date":"2025-11-25T16:15:44+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"This content is not available.","date":"2025-11-23T19:09:48+00:00","index":3,"fulltext":"This content is not available."},{"type":"editorInvitedReview","content":"This content is not available.","date":"2025-11-22T07:24:12+00:00","index":2,"fulltext":"This content is not available."},{"type":"editorInvitedReview","content":"This content is not available.","date":"2025-11-21T05:34:48+00:00","index":4,"fulltext":"This content is not available."},{"type":"editorInvitedReview","content":"This content is not available.","date":"2025-11-14T17:36:33+00:00","index":1,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2025-11-10T04:44:33+00:00","index":4,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2025-11-07T09:06:33+00:00","index":3,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2025-10-21T23:53:07+00:00","index":2,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2025-09-23T14:28:56+00:00","index":1,"fulltext":"This content is not available."},{"type":"reviewersInvited","content":"","date":"2025-09-18T13:40:11+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-09-16T12:11:34+00:00","index":"","fulltext":""},{"type":"submitted","content":"European Journal of Human Genetics","date":"2025-09-16T11:20:39+00:00","index":"","fulltext":""},{"type":"checksFailed","content":"","date":"2025-09-16T11:05:05+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-09-16T10:37:45+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"european-journal-of-human-genetics","isNatureJournal":false,"hasQc":false,"allowDirectSubmit":false,"externalIdentity":"ejhg","sideBox":"Learn more about [European Journal of Human Genetics](http://www.nature.com/ejhg/)","snPcode":"41431","submissionUrl":"https://mts-ejhg.nature.com/cgi-bin/main.plex","title":"European Journal of Human Genetics","twitterHandle":"@ejhg_journal","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"ejp","reportingPortfolio":"Nature AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"1a45a0f0-85a6-427a-91db-d470c78cc90e","owner":[],"postedDate":"September 30th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[{"id":54952025,"name":"Health sciences/Health care/Health services/Genetic services"},{"id":54952026,"name":"Scientific community and society/Social sciences/Psychology/Human behaviour"}],"tags":[],"updatedAt":"2026-03-03T08:14:32+00:00","versionOfRecord":{"articleIdentity":"rs-7629411","link":"https://doi.org/10.1038/s41431-026-02051-8","journal":{"identity":"european-journal-of-human-genetics","isVorOnly":false,"title":"European Journal of Human Genetics"},"publishedOn":"2026-03-02 05:00:00","publishedOnDateReadable":"March 2nd, 2026"},"versionCreatedAt":"2025-09-30 07:35:12","video":"","vorDoi":"10.1038/s41431-026-02051-8","vorDoiUrl":"https://doi.org/10.1038/s41431-026-02051-8","workflowStages":[]},"version":"v1","identity":"rs-7629411","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-7629411","identity":"rs-7629411","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}