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

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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Notes

  1. 1.

    For more details regarding the 100kGP please visit www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/.

  2. 2.

    The researcher alerted the 100kGP team if a discrepancy was found and the team contacted the participant.

  3. 3.

    As yet, no AFs have been reported to participants.

  4. 4.

    The Montgomery ruling (2015) established that it is not for a medical professional to decide what information to provide to a patient. Instead health professionals need to provide information that a reasonable patient would want to know as well as what the particular patient in question wants to know. The medical professional is or should reasonably be aware that the particular patient would be likely to attach significance to a risk of injury in treatment.

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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.

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Correspondence to Lisa M. Ballard.

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Ballard, L.M., Horton, R.H., Dheensa, S. et al. Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study. Eur J Hum Genet (2020). https://doi.org/10.1038/s41431-019-0570-7

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