Abstract
Hypertrophic cardiomyopathy (HCM) is a hereditary heart condition, engendering possible fatal symptoms such as heart failure. Gene panel testing is currently employed to provide a genetic diagnosis for HCM, but the discovery of a Variant of Uncertain Significance (VUS) genetic test result is a possibility. This study explored the psychosocial impacts of receiving a VUS result on patients with HCM. A qualitative methodology, using semi-structured interviews, explored the experiences, perceptions, emotions and understanding of seven patients who had received a VUS result with a diagnosis of HCM. The interview transcripts were scrutinised using thematic analysis. Three key themes were highlighted; ‘anxiety’, ‘managing uncertainty’ and ‘hope’ and the overarching theme of ‘concern for family’. Overall, receiving a VUS result did not seem to have a serious psychosocial impact on these participants. The understanding of their result was diverse, but they largely acknowledged its uncertainty, concerned mainly about the impact on their family members. Two ways participants managed this uncertainty were to accept and compartmentalise their result and to remain hopeful for future result re-classification.These coping strategies were similarly seen in cancer patients with VUS results. Consequently, these findings should support Healthcare Professionals (HCPs), especially Genetic Counsellors, when discussing VUS results.