Constructing “best interests”: Genetic testing of children in families with hypertrophic cardiomyopathy

Geelen, Els; Hoyweghen, Ine Van; Doevendans, Pieter A.; Marcelis, Carlo; Horstman, Klasien

doi:10.1002/ajmg.a.34107

Cited by 27 publications

(29 citation statements)

References 21 publications

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“…Our findings with regard to parents' attitude to testing children accord with those of Geelen et al 24 : parents try to make decisions in their children's best interests and the decision is a dynamic process constructed over time. In health-care decisions concerning children, it is widely agreed that the best interests of a child should be the primary consideration.…”

Section: Discussionsupporting

confidence: 83%

Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications

et al. 2013

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Inherited cardiac conditions (ICCs) can lead to sudden cardiac death at any age, yet are often asymptomatic and clinically undetected. Prophylactic interventions are available and cascade testing is recommended to identify family members at risk. When a disease-causing mutation has been identified in a family, pre-symptomatic genetic testing (PSGT) is available. This study explores perceptions of the cascade process, impact of PSGT and attitudes towards direct contact as an alternative to family-mediated dissemination for ICCs. In depth, interviews were conducted with 22 participants eligible for PSGT for Hypertrophic Cardiomyopathy or Long QT syndrome. Data were analysed using an inductive, thematic approach. Risk is perceived to be low pre-test in the absence of symptoms, and participants frequently test with the aim of ruling out risk to self and children. Testing of children is a complex decision; although older participants have concerns about possible adverse effects of genetic testing early in the life course, young participants are pragmatic about their result. The meaning of a positive genetic test result may be difficult to conceptualise in the absence of clinical evidence of disease, and this may deter further dissemination to at-risk family members. A majority of participants see advantages in direct contact from health professionals and support it in principle. Implications for practice include addressing risk perception pre-test, and presenting genetic test information as part of a risk stratification process rather than a binary outcome. Families may require more support or intervention in cascading genetic test information.

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Section: Discussionsupporting

confidence: 83%

Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications

et al. 2013

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“…This study provides further insight into the impact of genetic testing on the family and highlights a need to pay special attention to the familial contexts during pretest and post-test counselling. 28,29 These results also suggest the need for further research on genetic discrimination in this area.…”

Section: Discussionmentioning

confidence: 80%

“…In previous articles, 28,29 we have described the processes of data collection and data analysis in detail; here we will give a summary related to the data to be reported in this article.…”

Section: Methodsmentioning

confidence: 99%

Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts

et al. 2012

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Since the 1990s, many countries in Europe and the United States have enacted genetic non-discrimination legislation to prevent people from deferring genetic tests for fear that insurers or employers would discriminate against them based on that information. Although evidence for genetic discrimination exists, little is known about the origins and backgrounds of fears of discrimination and how it affects decisions for uptake of genetic testing. The aim of this article is to gain a better understanding of these fears and its possible impact on the uptake of testing by studying the case of hypertrophic cardiomyopathy (HCM). In a qualitative study, we followed six Dutch extended families involved in genetic testing for HCM for three-and-a-half years. Semi-structured interviews were conducted with 57 members of these families. Based on the narratives of the families, we suggest that fears of discrimination have to be situated in the broader social and life-course context of family and kin. We describe the processes in which families developed meaningful interpretations of genetic discrimination and how these interpretations affected family members' decisions to undergo genetic testing. Our findings show that fears of genetic discrimination do not so much stem from the opportunity of genetic testing but much more from earlier experiences of discrimination of diseased family members. These results help identify the possible limitations of genetic non-discrimination regulations and provide direction to clinicians supporting their clients as they confront issues of genetic testing and genetic discrimination.

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“…This standard of ‘best interests' has become a central component and a tool to guide ethical and legal discussions about children in the area of medicine, in both the literature 42, 43, 44 and in national and international normative documents. 45, 46 In the context of genetic testing, there are many different views regarding what is in the child's best interests.…”

Section: Discussionmentioning

confidence: 99%

Legal approaches regarding health-care decisions involving minors: implications for next-generation sequencing

et al. 2016

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The development of next-generation sequencing (NGS) technologies are revolutionizing medical practice, facilitating more accurate, sophisticated and cost-effective genetic testing. NGS is already being implemented in the clinic assisting diagnosis and management of disorders with a strong heritable component. Although considerable attention has been paid to issues regarding return of incidental or secondary findings, matters of consent are less well explored. This is particularly important for the use of NGS in minors. Recent guidelines addressing genomic testing and screening of children and adolescents have suggested that as ‘young children' lack decision-making capacity, decisions about testing must be conducted by a surrogate, namely their parents. This prompts consideration of the age at which minors can provide lawful consent to health-care interventions, and consequently NGS performed for diagnostic purposes. Here, we describe the existing legal approaches regarding the rights of minors to consent to health-care interventions, including how laws in the 28 Member States of the European Union and in Canada consider competent minors, and then apply this to the context of NGS. There is considerable variation in the rights afforded to minors across countries. Many legal systems determine that minors would be allowed, or may even be required, to make decisions about interventions such as NGS. However, minors are often considered as one single homogeneous population who always require parental consent, rather than recognizing there are different categories of ‘minors' and that capacity to consent or to be involved in discussions and decision-making process is a spectrum rather than a hurdle.

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Constructing “best interests”: Genetic testing of children in families with hypertrophic cardiomyopathy

Cited by 27 publications

References 21 publications

Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications

Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications

Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts

Legal approaches regarding health-care decisions involving minors: implications for next-generation sequencing

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