Negotiating blame and responsibility in the context of a 'de novo' mutation

Dimond, Rebecca ORCID: https://orcid.org/0000-0003-1974-7289 2014. Negotiating blame and responsibility in the context of a 'de novo' mutation. New Genetics and Society 33 (2) , pp. 149-166. 10.1080/14636778.2014.910450

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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 are considerably limited. This article draws on semi-structured interviews conducted with 23 parents of children diagnosed with 22q11 deletion syndrome, a syndrome associated with high rates of de novo cases. Three themes were identified: “lay” understandings of genetics, making genetic connections and genetic gatekeeping. Overall, this article articulates and confirms the enduring significance of family for contextualizing health and illness.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Social Sciences (Includes Criminology and Education)
Subjects:	H Social Sciences > HM Sociology H Social Sciences > HN Social history and conditions. Social problems. Social reform H Social Sciences > HQ The family. Marriage. Woman Q Science > QH Natural history > QH426 Genetics
Uncontrolled Keywords:	genetic syndrome, family communication, responsibility, blame, family history
Publisher:	Taylor and Francis
ISSN:	1463-6778
Funders:	ESRC
Date of Acceptance:	28 March 2014
Last Modified:	20 Nov 2023 11:38
URI:	https://orca.cardiff.ac.uk/id/eprint/72966

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