Parents’ views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study

Familial hypercholesterolemia (FH) is a serious inherited disorder which greatly increases individuals’ risk of Cardiovascular Disease (CVD) in adult life. However, medical treatment and lifestyle adjustments can fully restore life expectancy. Whilst European guidance advises that where there is a known family mutation genetic testing is undertaken in early childhood, the majority of the at-risk population remain untested and undiagnosed. To date, only a small number of studies have explored parents’ and children’s experiences of testing and treatment for FH, and little is known about interactions between health professionals, parents and children in clinic settings. In this study, in-depth interviews were undertaken with parents who had attended a genetics and/or lipid clinic for FH with their children (n=17). A thematic analysis revealed four main themes: Undertaking early prevention, postponing treatment, parental concerns and the importance of the wider family context. The majority of parents supported genetic testing for FH in childhood. However, although some were very supportive of following early treatment recommendations, others expressed reluctance. Importantly, some parents were concerned that inappropriate information had been shared with their children, and wished that more time had been given to discuss how, when and what to tell in advance. Future research is needed to explore the long term outcomes for children who undertake genetic testing and early treatment for FH, and to trial interventions to improve the engagement, follow up and support of children who are at risk, or diagnosed, with this disorder.