Improving Uptake of Cascade Genetic Testing in HCM
Research type
Research Study
Full title
Improving Uptake of Cascade Genetic Testing in Hypertrophic Cardiomyopathy
IRAS ID
229702
Contact name
Ruth McGowan
Contact email
Sponsor organisation
NHS Greater Glasgow & Clyde
Duration of Study in the UK
0 years, 6 months, 0 days
Research summary
Hypertrophic cardiomyopathy (HCM) is an inherited heart condition with 1 in 500 individuals affected in the UK. Due to its inheritance pattern and its variable expression in those with the condition, it is important for it to be detected early so that appropriate management and monitoring can be put in place.
Despite the offer of predictive genetic testing for relatives at-risk, studies have shown that the uptake is less than ideal. This was also seen in an audit of the inherited cardiac clinic data in the West of Scotland.
The primary objective of this study is therefore to identify influencing factors that may impact on individuals decision to uptake genetic testing. This will be carried out through a questionnaire. The secondary objective of this pilot study is also to evaluate the designed questionnaire and its suitability for use as a means to establish the research question. This will also be done as a questionnaire to the participant after completion of the questionnaire. Through feedback, the questionnaire may be modified. If it is done so, the modified questionnaire will be resubmitted to REC as an amendment for further approval. It is anticipated after this initial pilot, a larger study will be conducted across Scotland in order to improve the uptake of genetic testing nationally.
It is anticipated in further studies with larger sample sizes that patient literature may be developed and changes made to the current genetic services to improve the uptake of genetic testing in HCM by drawing on the information collected. However, if there are apparent and urgent defects of the current genetic services identified through this pilot study, then this will be given as feedback to the clinical staff so possible changes can be made to ensure the continual improvement of healthcare services.REC name
London - Harrow Research Ethics Committee
REC reference
17/LO/1439
Date of REC Opinion
1 Oct 2017
REC opinion
Further Information Favourable Opinion