Illness perceptions in genetic testing for Hypertrophic Cardiomyopathy
Research type
Research Study
Full title
A mixed methods study of the influence of illness perceptions on the cascade genetic testing process in Hypertrophic Cardiomyopathy.
IRAS ID
244547
Contact name
Rory O'Connor
Contact email
Sponsor organisation
NHS Greater Glasgow & Clyde
Duration of Study in the UK
0 years, 8 months, 0 days
Research summary
Hypertrophic cardiomyopathy (HCM) a relatively common inherited cardiac disease, symptoms include breathlessness, palpitations, chest pain and more rarely, sudden cardiac death. Cascade genetic testing is a mechanism for identifying individuals at risk of genetic conditions by means of systematic family tracing. This method is a viable means of confirming HCM associated gene carriers and identifying at-risk relatives, however uptake of such testing is sub-optimal. \n\nSubjective perceptions of an illnesses cause, consequences and timeline are understood to influence health related behaviours. The study aims to explore the illness perceptions concerning HCM of those first undergoing genetic testing for HCM and whether these perceptions influence uptake of subsequent cascade testing by their respective relatives. Specifically whether the relatives of those who report more symptoms associated with HCM and indicate a good understanding of the cause, consequences and timeline of the condition are more likely to take up testing. The secondary objectives will be to evaluate whether the subjective closeness of the relationship or self confidence in the ability to distribute information to relatives influences how likely relatives are to take up testing.\n\nApproximately 123 patients attending the West of Scotland Inherited Cardiac Diseases clinic will complete questionnaires assessing their illness perceptions of HCM, subjective closeness to family members and confidence in being able to distribute self referral forms to at risk relatives. Six of these individuals will also take part in semi-structured interviews to exploring these areas qualitatively. Statistical analysis will explore the relationship between the proportion of first degree relatives taking up testing and the questionnaire data. Interpretive Phenomenological Analysis (IPA) will be used to analyse themes emerging from interview transcripts. \n \nIdentifying specific illness perceptions held by patients that influence the uptake of genetic testing in relatives could inform the way information is given to future patients and their first degree relatives. \n\n
REC name
South West - Central Bristol Research Ethics Committee
REC reference
18/SW/0209
Date of REC Opinion
6 Sep 2018
REC opinion
Favourable Opinion