Caring for families affected by inherited cardiovascular conditions and sudden cardiac death

Abstract

Inherited cardiovascular conditions are clinically heterogenous. Sudden cardiac death (SCD) is a devastating complication and has a significant impact on surviving family. SCD families need more information and support. The aims of this PhD were 1) develop a support intervention for SCD families, 2) understand the impact of cardiovascular genetic counselling practice on genetic counsellor well-being.

Stakeholder codesign focus groups were used to develop an intervention for SCD families (Chapter 2). Initial ideas and gaps in care were identified and formed the basis of COPE-SCD, an online community supporting families after SCD in the young. COPE-SCD has two parts: a website and a series of online sessions. The website includes information on SCD, genetic testing, grief and family stories. The website was assessed for readability, and a ‘think aloud’ analysis was conducted (Chapter 3). The online sessions were assessed with questionnaires and interviews (Chapter 4). Both were mapped to the theoretical framework of acceptability and found to be acceptable by participants.

Sustained exposure to SCD families can affect healthcare professional well-being. Genetic counsellors were interviewed exploring challenges, self-care practices and reflexive thematic analysis of interviews was conducted (Chapter 5). Demographic data including psychological measures were collected. 17% had scores indicating burnout. Four themes were identified: 1) cardiovascular genetic counselling is different, not harder or easier; 2) workplace pressures affect well-being; 3) a self-care “tool kit” including supervision is necessary.

This thesis takes a holistic approach to improve the care of SCD families, with a genetic counselling focus. Implementation science methodology underpins my work, ensuring the evidence developed has the best chance to become embedded in practice. The well-being of genetic counsellors is addressed and a road map provided to ensure a fulfilling career.