Abstract
Background: Inherited cardiac conditions (ICCs) encompass two disease entities: Inherited cardiomyopathies and Inherited arrhythmic syndromes. The prevalence of ICCs is estimated at 3% of the general population and therefore causes significant morbidity worldwide and is a leading cause of sudden death in the young. Relatives of an affected person generally have a 50% chance of inheriting the condition and are therefore recommended to undergo cardiac screening and/or predictive genetic testing (PGT). Patients often find undergoing these tests stressful and are worried not just for their own health but also worry about the impact of the result on their family. There is a high rate of drop-out from follow up of family members who are diagnosed with an ICC and/or are found to be genetic carriers despite carrying a risk for sudden cardiac death. Psychoeducational interventions in ICCs are scarce and none have been developed specifically to support at-risk family members.Aim: The overall aim of this study was to develop a psychoeducational intervention to support at-risk family members undergoing cardiac screening and/or PGT.
Methods: The studies conducted in this research were based on the Development Stage of the Medical Research Council framework for developing complex interventions and guided by Self Determination theory (SDT). The first phase of the research was a mixed methods systematic review which provided the evidence base for the experiences of adult patients at risk for ICCs undergoing screening and/or PGT. Building on this knowledge, in the second phase of the research, a qualitative study of 29 adult patients who had screening and/or PGT explored the preferences and priorities for a psychoeducational intervention. Themes were generated through Framework analysis with the application of SDT as a conceptual framework. In the third and final phase of the research, the synthesis of the findings of the systematic review and qualitative study alongside patient and public involvement activities informed the model for the psychoeducational intervention.
Findings: The systematic review detailed the experiences of family members at-risk for an ICC, including the psychosocial impact of this process, and identified areas requiring further support and development in the care pathway. The qualitative study generated four main themes wherein the theme, Impact of the proband’s story, is the reference point to a family’s journey into cardiac screening and/or PGT and the themes, Leveraged autonomy, Harnessing competence and Relatedness in the social context of ICCs, all correspond to the basic psychological needs fulfilment within SDT to promote optimal adjustment and coping. The synthesis of the findings from the systematic review and qualitative study revealed the need for early assessment of psychological needs and a psychoeducational intervention focused on patients who receive a diagnosis or likely diagnosis and/or are genetic carriers for an ICC.
Furthermore, support is needed for decision-making regarding lifestyle, management, and communication to other family members. The refined intervention model following the PPI activity is comprised of components that address the basic psychological needs of competence, autonomy, and relatedness with recommendations for timing, delivery, and outcome measures.
Conclusion: This research is a novel application of Self Determination theory to enable the development of an evidence-based psychoeducational intervention to support patients who have undergone cardiac screening and/or PGT with a new diagnosis or carrier status for an ICC. In addition, this study has identified multiple targets for service improvement along the ICC care pathway for at-risk family members.
| Date of Award | 1 Mar 2022 |
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| Original language | English |
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| Supervisor | Alison Metcalfe (Supervisor), Christine Patch (Supervisor), Emma Rowland (Supervisor) & Wladzia Czuber-Dochan (Supervisor) |