Taking after a parent: phenotypic resemblance and the professional familialisation of genomics

Hedgecoe, Adam ORCID: https://orcid.org/0000-0002-8965-3889, Job, Kathleen ORCID: https://orcid.org/0000-0001-9959-2111 and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2024. Taking after a parent: phenotypic resemblance and the professional familialisation of genomics. Sociology of Health & Illness 46 (2) , pp. 257-275. 10.1111/1467-9566.13699

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Abstract

This article draws on 2 years’ worth of ethnographic observation of team meetings to explore decision-making in an NHS clinical genomics service. The focus of discussions was on ambiguous genomic results known as VUS or Variants of Uncertain Significance, which may be pathogenic but which also may turn out to be benign. In examining decision-making around such results, we note how, in contrast to much policy and promotional material in this area, clinicians in these meetings (clinical geneticists and genetic counsellors) place great emphasis on parental phenotypes and whether the parents of a patient share the symptoms and signs of the suspected condition. This information is then combined with the result of genomic tests to decide whether the variant a patient has is responsible for their condition. This article explores the way in which clinicians attempt to flexibly enrol parents into genomic explanations through informal diagnosis of their possible phenotypes and the way in which actually meeting parents allows some clinicians to trump explanations based on documentary or photographic data. The paper sheds light on the way that earlier scholarly understandings of such decisions (around, say dysmorphology) remain relevant and explores claims that laboratory tests overrule clinical decision-making.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Social Sciences (Includes Criminology and Education) Medicine
Publisher:	Wiley
ISSN:	1467-9566
Funders:	Wellcome Trust
Date of First Compliant Deposit:	3 August 2023
Date of Acceptance:	2 August 2023
Last Modified:	26 Mar 2024 13:32
URI:	https://orca.cardiff.ac.uk/id/eprint/161443

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