Abstract:This article examines the implications for parents and family members when a child is diagnosed with a genetic syndrome. In particular, it describes how practices of understanding are shaped when the syndrome occurs 'de novo', that is, when it has not been inherited from either parent and where there is no family history. Despite a significant body of research exploring the social implications of genetic disease and diagnostic technologies, sociological understandings of the implications of a de novo mutation … Show more
“…Clinicians delivering exome results must explain the inheritance pattern of the causal variant, and this necessarily identifies genetic responsibility. When a variant is de novo , it is relatively easy for clinicians to exculpate parents genetically (Dimond ; Featherstone et al . ; McLaughlin and Clavering ).…”
Section: Discussionmentioning
confidence: 99%
“…From a sociological perspective, actionability is interactionally achieved: genetic variants become meaningful within gene worlds (Timmermans and Shostak ). As Dimond (: 150) puts it:Although a genetic diagnosis might bring new explanations of disease causality, it is often the home, family and social relationships which provide the context through which health and illness are experienced and given meaning.…”
Section: Introductionmentioning
confidence: 99%
“…Taking care of a child with serious disabilities is also time and energy consuming in societies where disability signals diminished personhood (Landsman ; McKeever and Miller ). Related to the stigma of disability may be unresolved feelings of guilt and self‐blame for causing the disabilities (Dimond , Fernandez‐Alcantara et al . , Hallowell et al .…”
Genomic tests such as exome sequencing have recently become an option for diagnosing patients. The tests allow clinical geneticists to sequence the majority of patients' disease causing genetic variants. As a new technology, exome sequencing confronts the question of what the benefit is of this increased genetic information. Against a narrow perspective of clinical utility that emphasises tangible improvements in a patient's disease management, professional organisations have argued that genomic sequencing should be considered beneficial if it helps families and society. Based on video-recorded observations of the return of exome sequencing results to parents of a child with disabilities in the clinic and in-depth interviews with these parents, we examine how genomic test results become actionable in the clinical encounter. We find that parents and clinicians marshal exome results beyond biomedical diagnostic and management goals to address questions about guilt for causing the disabilities and to secure access to disability-related services. We argue that genomic actionability rests on the interaction between the biological characteristics of genetic results and the predicaments facing parents of children with disabilities.
“…Clinicians delivering exome results must explain the inheritance pattern of the causal variant, and this necessarily identifies genetic responsibility. When a variant is de novo , it is relatively easy for clinicians to exculpate parents genetically (Dimond ; Featherstone et al . ; McLaughlin and Clavering ).…”
Section: Discussionmentioning
confidence: 99%
“…From a sociological perspective, actionability is interactionally achieved: genetic variants become meaningful within gene worlds (Timmermans and Shostak ). As Dimond (: 150) puts it:Although a genetic diagnosis might bring new explanations of disease causality, it is often the home, family and social relationships which provide the context through which health and illness are experienced and given meaning.…”
Section: Introductionmentioning
confidence: 99%
“…Taking care of a child with serious disabilities is also time and energy consuming in societies where disability signals diminished personhood (Landsman ; McKeever and Miller ). Related to the stigma of disability may be unresolved feelings of guilt and self‐blame for causing the disabilities (Dimond , Fernandez‐Alcantara et al . , Hallowell et al .…”
Genomic tests such as exome sequencing have recently become an option for diagnosing patients. The tests allow clinical geneticists to sequence the majority of patients' disease causing genetic variants. As a new technology, exome sequencing confronts the question of what the benefit is of this increased genetic information. Against a narrow perspective of clinical utility that emphasises tangible improvements in a patient's disease management, professional organisations have argued that genomic sequencing should be considered beneficial if it helps families and society. Based on video-recorded observations of the return of exome sequencing results to parents of a child with disabilities in the clinic and in-depth interviews with these parents, we examine how genomic test results become actionable in the clinical encounter. We find that parents and clinicians marshal exome results beyond biomedical diagnostic and management goals to address questions about guilt for causing the disabilities and to secure access to disability-related services. We argue that genomic actionability rests on the interaction between the biological characteristics of genetic results and the predicaments facing parents of children with disabilities.
“…In this section, I describe how these dimensions are enacted. The term negotiating blame, as taken from literature exploring blame attribution in health‐care settings, is used here to mean this process (Béhague et al, 2008; Dimond, 2014).…”
Stress‐induced mental illnesses have become the focus of increasing international attention, particularly in Japan since the 1990s, where judiciary cases and welfare‐state initiatives established causal links between work stress and mental illness. However, how individuals retrospectively construct this causality remains a marginal topic in the literature. This ethnographic article explores the ways in which male workers seeking compensation for their condition (depression and adjustment disorder) reconstruct aetiology narratives and to what avail. This paper demonstrates two themes: (1) how objectivising stress (related to specific formats of worker compensation), no‐faulting (dispensing with individual blame to view stress as pervasive in the workplace) and negotiating blame (seeking explanation in terms of individual psychology) construct a case, and (2) how narrative reconstruction functions as both a barrier to recovery and way of working towards recovery and collective function. It is argued that the narrative reconstructions of workers, who become unwell and seek recognition, suggest uncertain self‐victimisation despite the broader understanding of mental illness in contemporary Japan. The findings imply the heuristic potential of relativising causality and treating analytical dichotomies, including causality–narrative, victimhood–agency and fact–fiction, not as contradictory alternatives, but as different analysis levels, to better understand ambiguous illness narratives.
“…From her perspective all her work to protect her child had been undermined because a permanent connection had been made between her son and her biological kin that she could not remove or repair. This is a key reason why a de novo explanation is often preferred as it alleviates this sense of guilt (Dimond, 2014a). Indeed one of the forms of 'moral labour' geneticists do when communicating a de novo explanation is to stress that it means that parents should not blame themselves, either for passing this on, or doing anything in the pregnancy that could have contributed to the problem (Featherstone et al, 2006b).…”
Children with unexplained problems in their development can be referred to genetics clinics; the number having such referrals is increasing as new technologies enhance the number of genetic variations that can be identified. From the perspective of the child and their family, this raises a number of issues social science research can help us to understand. In particular issues such as understandings of kinship; feelings of parental responsibility; the uncertainties involved in diagnosis, and the different ways the child is visualised through the stages of diagnosis. As new generation sequencing enters the clinic it is important to consider how what happens to children and their families may both change and stay the same.
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