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Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance

Horton, Rachel H; Macken, William L; Pitceathly, Robert DS; Lucassen, Anneke M; (2023) Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance. Journal of Medical Ethics 10.1136/jme-2023-109108. (In press). Green open access

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Abstract

We discuss a case where clinical genomic investigation of muscle weakness unexpectedly found a genetic variant that might (or might not) predispose to kidney cancer. We argue that despite its off-target and uncertain nature, this variant should be discussed with the man who had the test, not because it is medical information, but because this discussion would allow the further clinical evaluation that might lead it to becoming so. We argue that while prominent ethical debates around genomics often take 'results' as a starting point and ask questions as to whether to look for and how to react to them, the construction of genomic results is fraught with ethical complexity, although often couched as a primarily technical problem. We highlight the need for greater focus on, and appreciation of, the ethical work undertaken daily by scientists and clinicians working in genomic medicine and discuss how public conversations around genomics need to adapt to prepare future patients for potentially uncertain and unexpected outcomes from clinical genomic tests.

Type: Article
Title: Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/jme-2023-109108
Publisher version: http://dx.doi.org/10.1136/jme-2023-109108
Language: English
Additional information: © Author(s) (or their employer[s]) 2023. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license (https://creativecommons.org/licenses/by/4.0/).
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10173814
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