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Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study

Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study
Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study
The 100,000 Genomes Project (100kGP)—a hybrid clinical-research initiative—was set up to analyse whole-genome sequences (WGS) from patients living with a rare disease or cancer. The project positioned participant consent as being of central importance, but consent in the context of genomic testing raises challenging issues. In this mixed method study, we surveyed 1337 100kGP participants regarding their experiences of taking part in the project and conducted in-depth interviews with 24 survey respondents to explore these findings further. Survey responses were analysed using descriptive statistics and interview data were analysed thematically. The consent approach of the 100kGP resulted in a proportion of our study’s participants not understanding the complexities of the project and what types of results they might receive; for example, 20% of participants who we surveyed from the cancer arm did not recall what decisions they had made regarding additional findings. It is not surprising that a project such as this, with such diverse aims and participant groups, would throw up at least some challenges. However, participants reported being satisfied with their experience of the project to date. Our study highlights that in the context of consent for more complex endeavours, such as the 100kGP, it is important to assess (and document) an agreement to take part, but complicated decisions about what and when to communicate may need revisiting over time in response to changing contexts. We discuss the implications of our findings with reference to participants of the 100kGP and the newly formed NHS Genomic Medicine Service.
1018-4813
732-741
Ballard, Lisa M.
48a7b1af-4d2b-4ec7-8927-84361a3c62a9
Horton, Rachel H.
f79e8b73-2edc-47aa-b29a-1801ad10fe6b
Dheensa, Sandi
d7d7e2bb-8def-4fad-9e1d-33d8141a0c9c
Fenwick, Angela
95a1f4fa-7f6f-4c07-a93b-9ea39c231c31
Lucassen, Anneke M.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Ballard, Lisa M.
48a7b1af-4d2b-4ec7-8927-84361a3c62a9
Horton, Rachel H.
f79e8b73-2edc-47aa-b29a-1801ad10fe6b
Dheensa, Sandi
d7d7e2bb-8def-4fad-9e1d-33d8141a0c9c
Fenwick, Angela
95a1f4fa-7f6f-4c07-a93b-9ea39c231c31
Lucassen, Anneke M.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5

Ballard, Lisa M., Horton, Rachel H., Dheensa, Sandi, Fenwick, Angela and Lucassen, Anneke M. (2020) Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study. European Journal of Human Genetics, 28 (6), 732-741. (doi:10.1038/s41431-019-0570-7).

Record type: Article

Abstract

The 100,000 Genomes Project (100kGP)—a hybrid clinical-research initiative—was set up to analyse whole-genome sequences (WGS) from patients living with a rare disease or cancer. The project positioned participant consent as being of central importance, but consent in the context of genomic testing raises challenging issues. In this mixed method study, we surveyed 1337 100kGP participants regarding their experiences of taking part in the project and conducted in-depth interviews with 24 survey respondents to explore these findings further. Survey responses were analysed using descriptive statistics and interview data were analysed thematically. The consent approach of the 100kGP resulted in a proportion of our study’s participants not understanding the complexities of the project and what types of results they might receive; for example, 20% of participants who we surveyed from the cancer arm did not recall what decisions they had made regarding additional findings. It is not surprising that a project such as this, with such diverse aims and participant groups, would throw up at least some challenges. However, participants reported being satisfied with their experience of the project to date. Our study highlights that in the context of consent for more complex endeavours, such as the 100kGP, it is important to assess (and document) an agreement to take part, but complicated decisions about what and when to communicate may need revisiting over time in response to changing contexts. We discuss the implications of our findings with reference to participants of the 100kGP and the newly formed NHS Genomic Medicine Service.

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Accepted/In Press date: 17 September 2019
e-pub ahead of print date: 9 January 2020
Published date: 1 June 2020
Additional Information: Funding Information: Acknowledgements We wish to thank the staff recruiting participants to the 100kGP who handed out our survey, the patients who completed the survey and interview and Lisa Scott for her invaluable administrative support. LB is funded by a Research Fellowship from Health Education England Genomics Education Programme. RH is funded by a Wellcome Trust Research Award for Health Professionals (218092/ Z/19/Z). This work was supported by funding from a Wellcome Trust collaborative award [grant number 208053/Z/17/Z (to AL)] and funding from the National Institute for Health Research (NIHR) Wessex Clinical Research Network. The views expressed in this publication are those of the author(s) and not necessarily those of the HEE GEP, NIHR or the Department of Health and Social Care. Publisher Copyright: © 2020, The Author(s), under exclusive licence to European Society of Human Genetics.

Identifiers

Local EPrints ID: 437224
URI: http://eprints.soton.ac.uk/id/eprint/437224
ISSN: 1018-4813
PURE UUID: eac912c0-f2e8-4962-89b4-6ef0e788bb7c
ORCID for Lisa M. Ballard: ORCID iD orcid.org/0000-0003-1017-4322
ORCID for Anneke M. Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

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Date deposited: 22 Jan 2020 17:32
Last modified: 13 Aug 2022 04:14

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Contributors

Author: Lisa M. Ballard ORCID iD
Author: Sandi Dheensa
Author: Angela Fenwick

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