Nature Genetics ( IF 31.7 ) Pub Date : 2024-08-05 , DOI: 10.1038/s41588-024-01843-2 Iftikhar J Kullo 1
The long delay before genomic technologies become available in low- and middle-income countries is a concern from both scientific and ethical standpoints. Polygenic risk scores (PRSs), a relatively recent advance in genomics, could have a substantial impact on promoting health by improving disease risk prediction and guiding preventive strategies. However, clinical use of PRSs in their current forms might widen global health disparities, as their portability to diverse groups is limited. This Perspective highlights the need for global collaboration to develop and implement PRSs that perform equitably across the world. Such collaboration requires capacity building and the generation of new data in low-resource settings, the sharing of harmonized genotype and phenotype data securely across borders, novel population genetics and statistical methods to improve PRS performance, and thoughtful clinical implementation in diverse settings. All this needs to occur while considering the ethical, legal and social implications, with support from regulatory and funding agencies and policymakers.
中文翻译:
通过全球合作促进多基因风险评估的公平性
从科学和伦理的角度来看,基因组技术在低收入和中等收入国家普及的时间很长,这都是一个令人担忧的问题。多基因风险评分(PRS)是基因组学的一项相对较新的进展,可以通过改善疾病风险预测和指导预防策略对促进健康产生重大影响。然而,目前形式的 PRS 的临床使用可能会扩大全球健康差距,因为它们对不同群体的可移植性有限。这一观点强调了全球合作的必要性,以制定和实施在全球范围内公平执行的 PRS。这种合作需要在资源匮乏的环境中进行能力建设和生成新数据,安全地跨境共享统一的基因型和表型数据,采用新颖的群体遗传学和统计方法来提高 PRS 性能,以及在不同环境中进行深思熟虑的临床实施。所有这一切都需要在监管和资助机构以及政策制定者的支持下,同时考虑道德、法律和社会影响。