Hardcastle Faranak, Lyle Kate, Horton Rachel, Samuel Gabrielle, Weller Susie, Ballard Lisa, Thompson Rachel, De Paula Trindade Luiz Valerio, Gómez Urrego José David, Kochin Daniel, Johnson Tess, Tatz-Wieder Nechama, Redrup Hill Elizabeth, Robinson Adams Florence, Eskandar Yoseph, Harriss Eli, Tsosie Krystal S, Dixon Padraig, Mackintosh Maxine, Nightingale Lyra, Lucassen Anneke
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.
Camb Prism Precis Med. 2023 Sep 12;2:e1. doi: 10.1017/pcm.2023.20. eCollection 2024.
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.
本文旨在探讨在尝试使基因组数据多样化以及将服务不足群体的个体纳入探索基因组学与健康关系的研究中所产生的伦理问题。我们采用了定性综合设计，整合了来自三个来源的数据：1）对2000年至2022年间发表的实证文章进行快速回顾，这些文章主要或次要关注使基因组数据多样化，或纳入服务不足群体以及由此产生的伦理问题；2）一次专家研讨会；3）一篇叙述性综述。通过这三个来源，我们发现伦理问题在结构因素和研究实践中相互关联。结构问题包括未能参与知识生产的政治、现有的不平等现象及其对基因组学的危害和益处分配方式的影响。与研究实践相关的问题包括缺乏反思性、剥削性动态以及未能优先考虑有意义的共同生产。伦理问题既源于研究的结构，也源于研究的实践，这可能会抑制研究人员和参与者以符合伦理的方式使数据多样化的机会。多样化的数据本身并不具有伦理意义，如果不关注塑造潜在参与者生活的社会、历史和政治背景，使基因组数据多样化的努力就有可能加剧现有的不平等。构建更具代表性的基因组数据集的努力需要制定伦理方法，这些方法应置于更广泛的使基因组学事业更加公平的尝试之中。
