Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions

Chaouch, Amina, Ulph, Fiona, Alder, James, Hamdalla, Hisham, Ealing, John, Clancy, Tara, Macleod, Rhona and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2024. Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions. European Journal of Human Genetics 32 (3) , pp. 260-262. 10.1038/s41431-023-01520-8

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Abstract

Introduction: Over the past several years, clinicians, patients and families in the UK have witnessed a dramatic change in the way genetic testing is performed, with the introduction of whole genome sequencing (WGS) and the NHS Genomic Test Directory in 2018 [1, 2]. In addition to WGS becoming more accessible, this has increased the chances of receiving a genetic diagnosis, established the reproductive implications of germline genetic variants and, in some patients, guided management [3]. The use of a hybrid (clinical and research) consent form may also open up opportunities to join research studies and clinical trials to more patients [4]. A new version of the consent form (Record of discussion form version 4.03) was introduced in 2021 by the NHS Genomic Medicine Service. This allows the implementation of WSG in mainstream clinical practice, whilst providing patients with the opportunity to donate data and a remainder sample to the National Genomics Research Library. The latter is managed by Genomics England Ltd (GEL), a company set up in 2013 and owned by the (English) Department of Health and Social Care. The purpose of this article is to explore ways to better support patients, relatives, and clinicians to consider the complex issues of consent in a busy general clinic, so they are better prepared when the result is available. We shall use the core ethical values that underpin consent to highlight some of the issues and, when possible, suggest practical solutions.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Additional Information:	License information from Publisher: LICENSE 1: URL: http://creativecommons.org/licenses/by/4.0/, Type: open-access
Publisher:	Springer Nature [academic journals on nature.com]
ISSN:	1018-4813
Date of First Compliant Deposit:	11 March 2024
Date of Acceptance:	4 December 2023
Last Modified:	11 Mar 2024 12:45
URI:	https://orca.cardiff.ac.uk/id/eprint/167095

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