An exploratory study of the psychological and behavioural impacts of genetic testing for thrombophilia among asymptomatic first-degree relatives of patients with venous thrombosis

Abstract

Objective. To conduct a preliminary exploration of psychological outcomes and health behaviour in individuals undergoing testing for genetic mutations associated with thrombophilia. Methods. Subjects were 57 carriers and 54 non-carriers identified through an existing pilot study. Part I analyzed perceived risk and psychological data collected at baseline, 1 week and 12 months post-test. Part II used a cross-sectional survey to collect data regarding: test implications, perceived causes and control, and behaviour change post-test. Results. Accuracy of risk perception improved post-test due to decreased risk perception among non-carriers. No major psychological harms were identified, but a subgroup of carriers may experience distress. Participants had a high sense of control over their risk of venous thromboembolism and had a good understanding of risk factors. Many tried to change their behaviours post-test, but did not report doing this specifically to reduce their risk of a blood clot. Conclusions. This exploratory study suggests no major psychological harm arising from genetic testing, but its findings need replication with larger samples.