Parents\u2019 views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study

Karen Forrest Keenan,Zosia Miedzybrodzka,Lorna Mckee,Robert M Finnie,John Dean,William G Simpson

doi:10.1007/s12687-018-0373-5

Abstract

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.

Highlights

Predictive genetic medicine and personalised genomics are heralded as having great potential to improve public health and clinical care, with pre-symptomatic genetic testing expected to become increasingly available for a wider range of common and/or complex disorders (Burton 2011)
We describe the views and experiences of parents with familial hypercholesterolemia (FH); a serious inherited disorder associated with premature morbidity and death from heart disease
A key finding was that just over half of parents (n = 9) were supportive of genetic testing for Familial hypercholesterolemia (FH) in children and early treatment with statins. This is similar to previous studies of parental attitudes towards genetic testing and treatment of FH in children, which found that the majority of parents had a positive attitude towards screening children for FH (Tonstadt et al 1995; Tonstad 1996; Umans-Eckenhausen 2002)

Summary

Introduction

Predictive genetic medicine and personalised genomics are heralded as having great potential to improve public health and clinical care, with pre-symptomatic genetic testing expected to become increasingly available for a wider range of common and/or complex disorders (Burton 2011). This form of testing determines whether an individual has inherited a gene,. Pre-symptomatic genetic testing is available for individuals at risk of FH, and treatment with medication and lifestyle adjustments has been shown to fully restore life expectancy (Nordestgaard et al 2013). As many as 85% of cases are undiagnosed—and untreated—in the majority of European countries, (Neil et al 2000; Marks et al 2004; Nordestgaard et al 2013), with studies suggesting that there are multiple barriers to cascade screening and treatment of at-risk relatives (Muir et al 2011; Hardcastle et al 2015)

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