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基因组学与正义:减轻基因组学在医学应用中产生的潜在危害和不公平现象。

Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine.

机构信息

Division of Cancer & Genetics, School of Medicine, Cardiff University, Wales, UK.

Department of Human Genetics and Amsterdam Public Health Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

出版信息

Hum Genet. 2022 May;141(5):1099-1107. doi: 10.1007/s00439-022-02453-w. Epub 2022 Apr 12.

Abstract

Advances in human genetics raise many social and ethical issues. The application of genomic technologies to healthcare has raised many questions at the level of the individual and the family, about conflicts of interest among professionals, and about the limitations of genomic testing. In this paper, we attend to broader questions of social justice, such as how the implementation of genomics within healthcare could exacerbate pre-existing inequities or the discrimination against social groups. By anticipating these potential problems, we hope to minimise their impact. We group the issues to address into six categories: (i) access to healthcare in general, not specific to genetics. This ranges from healthcare insurance to personal behaviours. (ii) data management and societal discrimination against groups on the basis of genetics. (iii) epigenetics research recognises how early life exposure to stress, including malnutrition and social deprivation, can lead to ill health in adult life and further social disadvantage. (iv) psychiatric genomics and the genetics of IQ may address important questions of therapeutics but could also be used to disadvantage specific social or ethnic groups. (v) complex diseases are influenced by many factors, including genetic polymorphisms of individually small effect. A focus on these polygenic influences distracts from environmental factors that are more open to effective interventions. (vi) population genomic screening aims to support couples making decisions about reproduction. However, this remains a highly contentious area. We need to maintain a careful balance of the competing social and ethical tensions as the technology continues to develop.

摘要

人类遗传学的进步引发了许多社会和伦理问题。基因组技术在医疗保健中的应用引发了许多问题,涉及个人和家庭层面的利益冲突、专业人员之间的利益冲突,以及基因组检测的局限性。在本文中,我们关注更广泛的社会公正问题,例如基因组学在医疗保健中的实施如何加剧先前存在的不平等或对社会群体的歧视。通过预测这些潜在问题,我们希望将其影响降至最低。我们将需要解决的问题分为六类:(i) 一般医疗保健的可及性,而不仅仅是针对遗传学。这包括医疗保险和个人行为。(ii) 数据管理和基于遗传学的社会群体歧视。(iii) 表观遗传学研究认识到,早期生活中经历的压力,包括营养不良和社会贫困,会导致成年后健康状况不佳,并进一步导致社会劣势。(iv) 精神疾病基因组学和智商的遗传学可以解决治疗的重要问题,但也可能被用于对特定的社会或族裔群体不利。(v) 复杂疾病受多种因素影响,包括个体效应较小的遗传多态性。关注这些多基因影响会分散人们对更易于进行有效干预的环境因素的注意力。(vi) 人群基因组筛查旨在支持夫妇在生育问题上做出决策。然而,这仍然是一个极具争议的领域。随着技术的不断发展,我们需要在竞争的社会和伦理紧张关系之间保持谨慎的平衡。

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