Department of Cardiovascular Medicine and the Gonda Vascular Center, Mayo Clinic, Rochester, MN, USA.
Nat Genet. 2024 Sep;56(9):1780-1787. doi: 10.1038/s41588-024-01843-2. Epub 2024 Aug 5.
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.
基因组技术在中低收入国家迟迟未能普及,这从科学和伦理的角度来看都是令人担忧的。多基因风险评分(PRSs)是基因组学的一项相对较新的进展,它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,PRSs 在其目前的形式中的临床应用可能会扩大全球健康差距,因为它们在不同群体中的可转移性有限。本观点强调需要全球合作来开发和实施在全球范围内表现公平的 PRSs。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,需要在跨越国界的情况下安全地共享协调的基因型和表型数据,需要新的群体遗传学和统计方法来提高 PRS 的性能,并且需要在不同环境中进行深思熟虑的临床实施。所有这些都需要在考虑到伦理、法律和社会影响的情况下进行,同时得到监管和资助机构以及政策制定者的支持。