Horn Ruth, Kerasidou Angeliki, Merchant Jennifer
Ethics of Medicine, Institute for Ethics and History of Health in Society, Faculty of Medicine, University of Augsburg, Augsburg, Germany.
The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Eur J Hum Genet. 2025 May;33(5):563-569. doi: 10.1038/s41431-025-01844-7. Epub 2025 Apr 8.
Large national genomic programmes have been created in many countries, including France, England and Germany, to advance the realisation of the potential genomic medicine holds to significantly contribute to society by improving health, and driving science, innovation and the economy. To reach this ambition, these programmes collect, manage and analyse big genomic datasets. While there is much talk about the promises, and hence the importance of genomics, there is little in-depth analysis of the actual contribution or value—here understood as benefits—of genomics for society at large. To explore the issue of the value of large-scale genomic programmes for society, UK-FR-D+ GENE held an international workshop focusing on a variety of levels—societal, economic, clinical, scientific, and population-wide level—at which such benefits might be observed. First, the broader societal implications of large genome programmes and their impact for public trust were discussed. Second, the meaning of fair and just allocation of public resources, based on considerations of the economic costs and benefits of genomic innovations, was examined. Third, the benefits of these innovations for stakeholders (clinicians, patients, and families) at the clinical level were investigated. Fourth, the scope and limitations of genomics at the scientific level were discussed. Finally, the potential of genomics to improve health at the population level was explored. Providing an insight into the benefits of large genomic programmes on various levels, the workshop concluded by defining several criteria that should be considered to ensure benefits for society when implementing large genomic programmes.
许多国家，包括法国、英国和德国，都设立了大型国家基因组计划，以推动基因组医学潜力的实现，基因组医学有望通过改善健康状况以及推动科学、创新和经济发展，为社会做出重大贡献。为实现这一目标，这些计划收集、管理和分析大型基因组数据集。尽管人们对基因组学的前景以及重要性谈论颇多，但对于基因组学对整个社会的实际贡献或价值（这里理解为益处）却鲜有深入分析。为探讨大规模基因组计划对社会的价值问题，英国 - 法国 - 德国 + 基因组织举办了一次国际研讨会，聚焦于可能观察到此类益处的各个层面——社会层面、经济层面、临床层面、科学层面和全人群层面。首先，讨论了大型基因组计划更广泛的社会影响及其对公众信任的影响。其次，基于对基因组创新的经济成本和效益的考量，审视了公共资源公平公正分配的意义。第三，研究了这些创新在临床层面给利益相关者（临床医生、患者和家庭）带来的益处。第四，讨论了基因组学在科学层面的范围和局限性。最后，探讨了基因组学在人群层面改善健康的潜力。该研讨会深入探讨了大型基因组计划在各个层面的益处，最后通过定义若干标准得出结论，在实施大型基因组计划时应考虑这些标准以确保对社会有益。
