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

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

Camb Prism Precis Med. 2023 Sep 12:2:e1. doi: 10.1017/pcm.2023.20. eCollection 2024.

Authors

Faranak Hardcastle^{1

2}, Kate Lyle^{1

2}, Rachel Horton¹, Gabrielle Samuel^{1

3}, Susie Weller^{1

2}, Lisa Ballard², Rachel Thompson¹, Luiz Valerio De Paula Trindade², José David Gómez Urrego², Daniel Kochin¹, Tess Johnson¹, Nechama Tatz-Wieder⁴, Elizabeth Redrup Hill⁵, Florence Robinson Adams^{1

6}, Yoseph Eskandar¹, Eli Harriss⁷, Krystal S Tsosie⁸, Padraig Dixon^{1

9}, Maxine Mackintosh^{10

11}, Lyra Nightingale¹⁰, Anneke Lucassen^{1

2}

Affiliations

¹ Clinical Ethics, Law and Society group (CELS), and Centre for Personalised Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
² Clinical Ethics, Law and Society (CELS), The NIHR Southampton Biomedical Research Centre, University of Southampton, Southampton, UK.
³ King's College London, London, UK.
⁴ Big Data Institute, University of Oxford, Oxford, UK.
⁵ PHG Foundation, University of Cambridge, Cambridge, UK.
⁶ Centre for Science and Policy, University of Cambridge, Cambridge, UK.
⁷ Bodleian Health Care Libraries, University of Oxford, Oxford, UK.
⁸ Arizona State University, Tempe, AZ, USA.
⁹ Nuffield Department of Primary Care Health Sciences, University of Oxford, Oxford, UK.
¹⁰ Genomics England Ltd, London, UK.
¹¹ Alan Turning Institute, London, UK.

Abstract

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.

Keywords: data science; ethics; genomics; personalised medicine; precision medicine.

Publication types

Review