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

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.

Enablers and barriers to treatment adherence in heterozygous familial hypercholesterolaemia: a qualitative evidence synthesis

“…Individuals with lived experience of a family member being ill or dying prematurely due to FH had a heightened sense of risk 46 48 49 52 55 56 58–62. Individuals unaware of FH in their families or with family members living a life unaffected by its consequences perceived themselves at lower risk46 52 56 58 61 62: ‘My dad’s now in his 70s…it’s not something I feel particularly threatened about having.’56…”

Cascade screening and treatment of children with familial hypercholesterolemia in Turkey

“…Twenty-four (47.1%) were female, and 27 (52.9%) were male. The mean age of patients was 9.8 ± 3.2 (5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17) years. Assessed from family history, FH in parents was declared by 44 (86.3%) patients, and 17 (33.3%) parents were receiving lipid-lowering treatment.…”

“…Kinnear et al documented that the concern about long-term safety and potential side effects of FH medication are substantial barriers to treatment adherence in FH [11]. Concerns about the side effects of statins are the main reason for refusing to take medication [12]. However, longterm studies showed that severe side effects of statins are rare [10,23].…”

“…Early low-fat dietary interventions and statin treatment in FH is important for better clinical outcomes [8,9,10]. However, the fear of adverse effects causes strong parents' concern about the initiation of statin treatment for their children [11,12].…”

Genetics professionals’ experiences of facilitating parent/child communication through the genetic clinic

“…However, there is a lack of evidence about how genetic health professionals actually implement these strategies in practice (Mendes et al, 2016), with recent studies demonstrating parents may even experience 'unsanctioned' disclosure in a genetics setting (i.e. feeling that health professionals have shared inappropriate information with their children) (Forrest Keenan et al, 2019). Furthermore, there are certain circumstances which can raise particularly difficult and complex ethical questions, leading to ongoing debates about the extent to which genetic health professionals should be involved in alerting relatives of their risk (Clarke & Wallgren-Pettersson, 2019).…”