Exploring the impact of DNA testing for familial hypercholesterolaemia

Abstract

Familial hypercholesterolaemia (FH) is a genetic disorder with a prevalence of 1 in 500, approximately 110 0000 people are estimated to be affected in the UK. The majority remain undiagnosed. Effective preventive treatment is available to reduce cholesterol. Untreated FH leads to premature CHD and death. The main aims of the study were to explore how patients and their families receive, make sense of and transmit genetic information and the impact that this dynamic process has on their perception of risk. Semi-structured interviews were conducted with 7 patients with a clinical diagnosis of FH and a mutation positive result. A further 7 interviews were conducted with members of their families who had also undergone genetic testing. The interview transcripts were thematically analysed. The findings suggest that genetic risk information help patients to make sense of their condition and acts as a stimulus to cascade testing. The process of family communication and the emotional responses to genetic risk information were complex.