Psychosocial implications for patients with HCM and VUS
Research type
Research Study
Full title
Exploring the psychosocial impacts on patients who have a diagnosis of Hypertrophic Cardiomyopathy (HCM) and a genetic test result of a Variant of Unknown Significance (VUS).
IRAS ID
269559
Contact name
Rebecca Dimond
Contact email
Sponsor organisation
Cardiff University
Duration of Study in the UK
0 years, 9 months, 18 days
Research summary
Research Summary
This project will explore and aim to understand the psychosocial impacts on patients who have a diagnosis of Hypertrophic Cardiomyopathy (HCM) and have received a genetic test result of a Variant of Unknown Significance (VUS).
HCM is an inherited cardiac condition which can cause serious and fatal symptoms such as heart failure and cardiac sudden death. HCM is caused by disease-causing variants in genes which cause the left heart wall to thicken, leading to various cardiac symptoms. These disease-causing variants are identified by genetic testing.
This project will explore and aim to understand the psychosocial impacts on patients who have a diagnosis of Hypertrophic Cardiomyopathy (HCM) and have received a genetic test result of a Variant of Unknown Significance (VUS).
HCM is an inherited cardiac condition which can cause symptoms such as heart failure and cardiac sudden death. With the seriousness of this condition, it is important to obtain a genetic diagnosis by testing for the known genes which cause HCM. There are three possible results outcomes from genetic testing: positive (a known disease-causing (pathogenic) variant is found), negative (no disease-causing (pathogenic) variant is found) or Variant of Unknown Significance (VUS) (a variant where it is not known if it will cause HCM or not, i.e. it could just be a normal non-disease causing variant in the population). If the patient has a VUS, UK Clinical Genetics Services do not test the patient's family for this VUS, so the family member’s risk of having HCM cannot be assessed. As many patients are receiving VUS results, it is necessary to know how this is affecting them psychosocially. As UK Clinical Genetics Services are now testing more genes to obtain a genetic diagnosis, more VUS are being found, meaning this may become a larger issue in the future.
The psychosocial impacts of having a VUS have already been explored in patients with common cancers, such as hereditary breast, ovarian and colorectal cancers, but not extensively in HCM, highlighting a gap in the literature. Therefore, I hope to address this gap in the literature by conducting interviews with around 10-15 patients with HCM and a VUS result either face-to-face, at participant’s home or a Northern Genetics Service building, or via Skype or telephone, at the patient's request.Anyone who has a HCM diagnosis and has a VUS genetic test result would be eligible for this study.
Summary of Results
This study showed that having a clinical diagnosis of Hypertrophic Cardiomyopathy (HCM) and receiving a Variant of Uncertain Significance (VUS) genetic test result led to patients feeling a range of emotions including anxiety, hope and uncertainty, with an overarching concern for their families. The study also showed that the study participants managed this uncertainty by employing various idiosyncratic coping strategies, for example accepting and compartmentalising their result, and remaining hopeful for future re-classification of their result. These coping strategies were similar to those used by patients who had cancer diagnoses and VUS results. These findings should aid Healthcare Professionals (HCPs), especially Genetic Counsellors, when discussing VUS results, by making them are aware of these strategies and how best to manage this uncertainty. Overall, receiving a VUS result did not seem to have a serious psychosocial impact on these participants. Participants had variable understanding of their result, but mainly understood the uncertainty associated with this result and were concerned about how it would impact their family members, specifically children.
REC name
South East Scotland REC 01
REC reference
19/SS/0107
Date of REC Opinion
23 Oct 2019
REC opinion
Further Information Favourable Opinion