Implementing patient-centred care in cardiogenetics: Recommendations for optimized care pathways

This dissertation aims to explore the psychosocial impact of inherited cardiac conditions (ICCs). It examines how psychological care can be better integrated into cardiogenetic services to support patient-centred care (PCC). Specifically, it investigates the current barriers and facilitators to psychosocial support as experienced by both healthcare professionals and patients, evaluates the adequacy of existing patient-reported outcome measures (PROMs), and develops an ICC-specific PROM that captures both psychological needs and addresses concerns related to inheritance. The quality of life for individuals with a genetic predisposition to cardiac conditions is significantly reduced compared to that of the general population. This reduction is partly due to increased psychological burden, including stress, anxiety, and uncertainty associated with inherited conditions. Although cardiogenetic care is organised in an interdisciplinary manner, in practice, there is often a lack of specific tools and structured processes to identify and address psychosocial needs effectively. Generic assessment instruments fall short in capturing the unique challenges faced by this group, including concerns about genetic transmission and family communication. In clinical care, the focus is often on measurable, biological parameters. In the context of ICC, this typically includes items such as heart rhythms or genetic test results. This dissertation builds on that medical foundation, but it also starts from a broader, more patient-centred question: can traditional clinical data be complemented by a greater attention to the fears and concerns of individuals with a genetic predisposition, like sudden cardiac death, or the anxiety about passing the genetic predisposition to their children? ICCs present not only serious medical risks but also complex psychological and familial challenges. Patients often face a mix of motivations and fears around genetic testing. While they may seek clarity about their own health or wish to inform relatives, anxiety about the *potential implications of testing can lead to hesitation or avoidance. It is often unclear where resistance ends, and anxiety begins. Psychological support, especially psychoeducation, can help navigate this ambiguity, particularly when guided by validated tools that capture emotional distress, quality of life, and inheritance-related concerns. Although cardiogenetic services are typically multidisciplinary, comprising clinical geneticists, cardiologists, genetic counsellors, and psychologists, role definitions across the team often remain unclear. For example, the contribution of the psychologist is poorly defined. Still, similar ambiguity can be observed for genetic counsellors and even for cardiologists who may initiate genetic testing without consistently involving a geneticist. Such a lack of clarity not only limits the effective use of each profession’s expertise but may also undermine team cohesion by weakening a culture of trust and shared responsibility. Moreover, research on well-being and shared decision-making in cardiogenetics often remains siloed within individual disciplines, which limits the development of integrated, evidence-based care models. To move beyond these limitations, a shift from multidisciplinary to an interdisciplinary approach is needed, in which expertise is not only combined but actively integrated to create truly collaborative care. Chapter 2 is a viewpoint article that highlights disparities across genetic centres and advocates for a clearer and more central role for psychologists in cardiogenetics. The viewpoint is followed in Chapter 3 by a three-round modified Delphi study involving 40 stakeholders, including medical professionals, psychosocial experts, and patient representatives, which identified and prioritised the barriers and facilitators to implementing PCC. The study revealed differing views among disciplines. Psychosocial professionals and patients aligned in prioritising emotional and relational aspects of care, whereas clinicians mainly highlighted their responsibility for communicating medical knowledge and saw more influence over facilitators (e.g., patient communication) than over structural barriers (e.g., lack of time). In contrast, patient representatives focused on patient’s daily lives outside the clinic, reflecting a more systemic perspective. These differences show that even when values are shared, stakeholders’ roles and context shape how they define PCC and what they consider feasible. As detailed in Chapter 4, we conducted a systematic review of existing PROMs for ICC populations to identify patient-reported outcome measures in cardiogenetics. The findings revealed significant gaps in current instruments, particularly their failure to capture distress, uncertainty, and genetic concerns adequately. No existing PROM was found to meet the needs of ICC patients fully. Trying to fulfil the need for a disease-specific instr...