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Incidental findings from genomic tests: exploring the ethical issues and implications for practice

Incidental findings from genomic tests: exploring the ethical issues and implications for practice
Incidental findings from genomic tests: exploring the ethical issues and implications for practice
Rapidly declining costs and increasing availability of whole-genome analysis means that clinical genetic testing has shifted from a targeted approach to broad analysis that can provide many more clinical predictions than previously possible. This thesis explores ethical issues in the discovery of clinically relevant findings not suspected from signs, symptoms or family history. In particular the consent and disclosure practices pertaining to such incidental findings (IFs) were explored from both health professional (HCP) and patient perspectives.

Phase 1 reviewed current practices and explored lay and professional experiences of and views about ethical issues surrounding IFs. 27 clinic observations and 48 in-depth interviews (32 HCP and 16 patient) were analysed thematically. Observations demonstrated that the concept of IFs was often not explained at the point of testing, or if it was, this was rarely recalled by patients. In-depth interviews demonstrated that the concept of IFs was variably understood. Some findings, classed as ‘incidental’ were in fact only potential IFs at the time of reporting. Only a sub-group of these became clear IFs, and then only when other complex investigations, including ones in relatives, had been analysed. Both patients and HCPs thought that seeking explicit consent for IFs was important, often using rights-based language, but both groups also described difficulties in gaining explicit consent for a broad and open ended concept. Some thought that actionable results should be provided regardless of consent but acknowledged that this might result in perceptions of paternalism. Furthermore, there were very different perceptions of what a good definition of actionable would be. Despite these concerns patients who had received an IF without giving specific consent, were pleased to receive them and did not feel their rights had been infringed.

The aim of Phase 2 was to design a questionnaire to examine whether key findings from phase 1 resonate with a larger and representative sample of UK HCPs who manage genetic testing. The questionnaire was developed through a process of cognitive interviewing and pre-testing and is now ready for piloting and administration as post-doctoral work.

Despite the focus on specific or ‘informed’ consent, this research found support for broad consent for the notion of IFs rather than specific consent to any particular IF or type of IF. This research provides an insight into the gap between the technological advances in genomics and their translation into clinical practice. Infrastructures to support consent and communication of IFs, need to be developed as genetic tests become routine for most medical specialities.
Crawford, Gillian
c49ec103-2936-4897-8f25-96abe25b3a9f
Crawford, Gillian
c49ec103-2936-4897-8f25-96abe25b3a9f
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Foster, Claire
00786ac1-bd47-4aeb-a0e2-40e058695b73
Fenwick, Angela
95a1f4fa-7f6f-4c07-a93b-9ea39c231c31

(2016) Incidental findings from genomic tests: exploring the ethical issues and implications for practice. University of Southampton, Faculty of Medicine, Doctoral Thesis, 373pp.

Record type: Thesis (Doctoral)

Abstract

Rapidly declining costs and increasing availability of whole-genome analysis means that clinical genetic testing has shifted from a targeted approach to broad analysis that can provide many more clinical predictions than previously possible. This thesis explores ethical issues in the discovery of clinically relevant findings not suspected from signs, symptoms or family history. In particular the consent and disclosure practices pertaining to such incidental findings (IFs) were explored from both health professional (HCP) and patient perspectives.

Phase 1 reviewed current practices and explored lay and professional experiences of and views about ethical issues surrounding IFs. 27 clinic observations and 48 in-depth interviews (32 HCP and 16 patient) were analysed thematically. Observations demonstrated that the concept of IFs was often not explained at the point of testing, or if it was, this was rarely recalled by patients. In-depth interviews demonstrated that the concept of IFs was variably understood. Some findings, classed as ‘incidental’ were in fact only potential IFs at the time of reporting. Only a sub-group of these became clear IFs, and then only when other complex investigations, including ones in relatives, had been analysed. Both patients and HCPs thought that seeking explicit consent for IFs was important, often using rights-based language, but both groups also described difficulties in gaining explicit consent for a broad and open ended concept. Some thought that actionable results should be provided regardless of consent but acknowledged that this might result in perceptions of paternalism. Furthermore, there were very different perceptions of what a good definition of actionable would be. Despite these concerns patients who had received an IF without giving specific consent, were pleased to receive them and did not feel their rights had been infringed.

The aim of Phase 2 was to design a questionnaire to examine whether key findings from phase 1 resonate with a larger and representative sample of UK HCPs who manage genetic testing. The questionnaire was developed through a process of cognitive interviewing and pre-testing and is now ready for piloting and administration as post-doctoral work.

Despite the focus on specific or ‘informed’ consent, this research found support for broad consent for the notion of IFs rather than specific consent to any particular IF or type of IF. This research provides an insight into the gap between the technological advances in genomics and their translation into clinical practice. Infrastructures to support consent and communication of IFs, need to be developed as genetic tests become routine for most medical specialities.

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More information

Published date: April 2016
Organisations: University of Southampton, Cancer Sciences

Identifiers

Local EPrints ID: 397335
URI: http://eprints.soton.ac.uk/id/eprint/397335
PURE UUID: 26ade807-470f-45a3-b216-1fdf6437e2e4
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338
ORCID for Claire Foster: ORCID iD orcid.org/0000-0002-4703-8378

Catalogue record

Date deposited: 14 Jul 2016 13:32
Last modified: 18 Feb 2021 16:58

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Contributors

Thesis advisor: Anneke Lucassen ORCID iD
Thesis advisor: Claire Foster ORCID iD
Thesis advisor: Angela Fenwick

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