Reflexive standardization and the resolution of uncertainty in the genomics clinic

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 2023. Reflexive standardization and the resolution of uncertainty in the genomics clinic. Social Studies of Science 53 (3) , pp. 358-378. 10.1177/03063127231154863

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Abstract

In genomics, the clinical application of Next Generation Sequencing technologies (such as Whole Genome or Exome Sequencing) has attracted considerable attention from UK policymakers, interested in the benefits such technologies could bring the National Health Service. However, this boosterism plays little attention to the challenges raised by a kind of result known as a Variant of Uncertain Significance, or VUS, which require clinical geneticists and related colleagues to classify ambiguous genomic variants as ‘benign’ or ‘pathogenic’. With a rigorous analysis based on data gathered at 290 clinical meetings over a two-year period, this paper presents the first ethnographic account of decision-making around NGS technology in a NHS clinical genomics service, broadening our understanding of the role formal criteria play in the classification of VUS. Drawing on Stefan Timmermans’ concept of ‘reflexive standardisation’ to explore the way in which clinical genetics staff classify such variants this paper explores the application of a set of criteria drafted by the American College of Medical Genetics and Genomics, highlighting the flexible way in which various resources – variant databases, computer programmes, the research literature – are drawn on to reach a decision. A crucial insight is how professionals’ perception of, and trust in, the clinical practice at other genomics centres in the NHS, shapes their own application of criteria and the classification of a VUS as either benign or pathogenic.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Social Sciences (Includes Criminology and Education)
Publisher:	SAGE Publications
ISSN:	1460-3659
Funders:	Wellcome Trust
Date of First Compliant Deposit:	22 January 2023
Date of Acceptance:	9 January 2023
Last Modified:	06 Sep 2023 19:26
URI:	https://orca.cardiff.ac.uk/id/eprint/156169

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