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

Karen Forrest Keenan (Corresponding Author), Robert M. Finnie, William G. Simpson, Lorna McKee, John Dean, Zosia Miedzybrodzka

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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.
Original languageEnglish
Pages (from-to)129-141
Number of pages13
JournalJournal of Community Genetics
Volume10
Issue number1
Early online date14 Jun 2018
DOIs
Publication statusPublished - Jan 2019

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Hyperlipoproteinemia Type II
Genetic Testing
Parents
Therapeutics
Social Adjustment
Life Expectancy
Life Style
Cardiovascular Diseases
Interviews
Lipids
Mutation
Health

Keywords

  • Familial hypercholesterolemia (FH)
  • Parents
  • Children
  • Treatment
  • Qualitative interviews

Cite this

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title = "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.",
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author = "Keenan, {Karen Forrest} and Finnie, {Robert M.} and Simpson, {William G.} and Lorna McKee and John Dean and Zosia Miedzybrodzka",
note = "Open Access via Springer Compact Agreement. We would like to thank all the participants who took part and the genetics/lipid services who helped with recruitment, particularly Hazel Hailey and Margaretha van Mourik. We also thank our project advisory team, patient representatives and Zoe Skea. KFK was supported by a Postdoctoral Fellowship from the Chief Scientist Office of the Scottish Government (PDF/10/06). The views of this paper are the authors own.",
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