Sociological study of Familial Hypercholesterolaemia (FH) cascade testing
Dr Jane Miller
Affiliated staffProf Adam Hedgecoe
FH is an inherited disorder giving rise to high blood cholesterol. The heterozygous form is common, affecting 1:500 in the UK, of whom it is estimated that 75% are unaware of the condition. If left untreated, it can lead to coronary heart disease in 50% of males by the age of 55 and can also cause sudden death before 40. It can be effectively treated through statin therapy. There are 3 genes identified whose mutations cause FH and test are available for the more common mutations. Cascade testing is a way of identifying relatives of those diagnosed with FH by taking family details and contacting them to invite them for testing. Funding for cascade testing and genetic testing has been secured for Wales, the first in the UK, and the service was officially launched in November 2011.
To find out how people with FH conceptualise the disorder, what their knowledge of the genetic or familial nature of the condition is, the implications for their health and well-being, and their experience of genetic testing and cascade testing in their family.The other part of the study is exploring the level of knowledge regarding FH amongst GPs, their understanding of the genetic nature of the condition and the process of cascade testing.
MethodsSemi-structured interviews of approximately 1 hour are being conducted with FH patients who have had a diagnosis for more than 6 months, whether clinical/ genetic or both. 30 patients are being interviewed across Wales. Semi-structured interviews of approximately 20 minutes are being conducted with 30 GPs across Wales.
Knowledge of FH as a genetic or familial condition among identified patients and primary healthcare workers. Reasons for participation and non-participation of identified FH patients in the initiation of cascade testing. Attitudes of patients and primary healthcare workers towards the identification and treatment of children with FH. Implementation of, and funding for, a nationwide programme of genetic testing that aims to identify people at risk of a condition in order to prevent cardiac disease in the future.
Further informationFor further information, please contact Adam Hedgecoe, firstname.lastname@example.org