The ethical challenges of diversifying genomic data: A qualitative evidence synthesis

Faranak Hardcastle; Kate Lyle; Rachel Horton; Gabrielle Samuel; Susie Weller; Lisa Ballard; Rachel Thompson; Luiz Valerio De Paula Trindade; José David Gómez Urrego; Daniel Kochin; Tess Johnson; Nechama Tatz-Wieder; Elizabeth Redrup Hill; Florence Robinson Adams; Yoseph Eskandar; Eli Harriss; Krystal S. Tsosie; Padraig Dixon; Maxine Mackintosh; Lyra Nightingale; Anneke Lucassen

doi:10.1017/pcm.2023.20

Cambridge Prisms: Precision Medicine (Jan 2024)

The ethical challenges of diversifying genomic data: A qualitative evidence synthesis

Faranak Hardcastle,
Kate Lyle,
Rachel Horton,
Gabrielle Samuel,
Susie Weller,
Lisa Ballard,
Rachel Thompson,
Luiz Valerio De Paula Trindade,
José David Gómez Urrego,
Daniel Kochin,
Tess Johnson,
Nechama Tatz-Wieder,
Elizabeth Redrup Hill,
Florence Robinson Adams,
Yoseph Eskandar,
Eli Harriss,
Krystal S. Tsosie,
Padraig Dixon,
Maxine Mackintosh,
Lyra Nightingale,
Anneke Lucassen

Affiliations

Faranak Hardcastle: ORCiD; Clinical Ethics, Law and Society group (CELS), and Centre for Personalised Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK Clinical Ethics, Law and Society (CELS), The NIHR Southampton Biomedical Research Centre, University of Southampton, Southampton, UK
Kate Lyle: Clinical Ethics, Law and Society group (CELS), and Centre for Personalised Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK Clinical Ethics, Law and Society (CELS), The NIHR Southampton Biomedical Research Centre, University of Southampton, Southampton, UK
Rachel Horton: ORCiD; Clinical Ethics, Law and Society group (CELS), and Centre for Personalised Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK
Gabrielle Samuel: Clinical Ethics, Law and Society group (CELS), and Centre for Personalised Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK King’s College London, London, UK
Susie Weller: Clinical Ethics, Law and Society group (CELS), and Centre for Personalised Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK Clinical Ethics, Law and Society (CELS), The NIHR Southampton Biomedical Research Centre, University of Southampton, Southampton, UK
Lisa Ballard: Clinical Ethics, Law and Society (CELS), The NIHR Southampton Biomedical Research Centre, University of Southampton, Southampton, UK
Rachel Thompson: Clinical Ethics, Law and Society group (CELS), and Centre for Personalised Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK
Luiz Valerio De Paula Trindade: Clinical Ethics, Law and Society (CELS), The NIHR Southampton Biomedical Research Centre, University of Southampton, Southampton, UK
José David Gómez Urrego: Clinical Ethics, Law and Society (CELS), The NIHR Southampton Biomedical Research Centre, University of Southampton, Southampton, UK
Daniel Kochin: Clinical Ethics, Law and Society group (CELS), and Centre for Personalised Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK
Tess Johnson: Clinical Ethics, Law and Society group (CELS), and Centre for Personalised Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK
Nechama Tatz-Wieder: Big Data Institute, University of Oxford, Oxford, UK
Elizabeth Redrup Hill: PHG Foundation, University of Cambridge, Cambridge, UK
Florence Robinson Adams: Clinical Ethics, Law and Society group (CELS), and Centre for Personalised Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK Centre for Science and Policy, University of Cambridge, Cambridge, UK
Yoseph Eskandar: Clinical Ethics, Law and Society group (CELS), and Centre for Personalised Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK
Eli Harriss: Bodleian Health Care Libraries, University of Oxford, Oxford, UK
Krystal S. Tsosie: Arizona State University, Tempe, AZ, USA
Padraig Dixon: Clinical Ethics, Law and Society group (CELS), and Centre for Personalised Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK Nuffield Department of Primary Care Health Sciences, University of Oxford, Oxford, UK
Maxine Mackintosh: Genomics England Ltd, London, UK Alan Turning Institute, London, UK
Lyra Nightingale: Genomics England Ltd, London, UK
Anneke Lucassen: ORCiD; Clinical Ethics, Law and Society group (CELS), and Centre for Personalised Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK Clinical Ethics, Law and Society (CELS), The NIHR Southampton Biomedical Research Centre, University of Southampton, Southampton, UK

DOI: https://doi.org/10.1017/pcm.2023.20
Journal volume & issue: Vol. 2

Abstract

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This article aims to explore the ethical issues arising from attempts to diversify genomic data and include individuals from underserved groups in studies exploring the relationship between genomics and health. We employed a qualitative synthesis design, combining data from three sources: 1) a rapid review of empirical articles published between 2000 and 2022 with a primary or secondary focus on diversifying genomic data, or the inclusion of underserved groups and ethical issues arising from this, 2) an expert workshop and 3) a narrative review. Using these three sources we found that ethical issues are interconnected across structural factors and research practices. Structural issues include failing to engage with the politics of knowledge production, existing inequities, and their effects on how harms and benefits of genomics are distributed. Issues related to research practices include a lack of reflexivity, exploitative dynamics and the failure to prioritise meaningful co-production. Ethical issues arise from both the structure and the practice of research, which can inhibit researcher and participant opportunities to diversify data in an ethical way. Diverse data are not ethical in and of themselves, and without being attentive to the social, historical and political contexts that shape the lives of potential participants, endeavours to diversify genomic data run the risk of worsening existing inequities. Efforts to construct more representative genomic datasets need to develop ethical approaches that are situated within wider attempts to make the enterprise of genomics more equitable.

Published in Cambridge Prisms: Precision Medicine

ISSN: 2752-6143 (Online)
Publisher: Cambridge University Press
Country of publisher: United Kingdom
LCC subjects: Medicine: Internal medicine; Medicine: Therapeutics. Pharmacology
Website: https://www.cambridge.org/core/journals/cambridge-prisms-precision-medicine/information/about-this-journal

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