Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
Social, Genetic and Developmental Psychiatry Centre & Department of Medical & Molecular, King's College London, London, UK.
Nat Rev Genet. 2022 Sep;23(9):524-532. doi: 10.1038/s41576-022-00470-z. Epub 2022 Mar 30.
Public health strategies aimed at disease prevention or early detection and intervention have the potential to advance human health worldwide. However, their success depends on the identification of risk factors that underlie disease burden in the general population. Genome-wide association studies (GWAS) have implicated thousands of single-nucleotide polymorphisms (SNPs) in common complex diseases or traits. By calculating a weighted sum of the number of trait-associated alleles harboured by an individual, a polygenic score (PGS), also called a polygenic risk score (PRS), can be constructed that reflects an individual’s estimated genetic predisposition for a given phenotype. Here, we ask six experts to give their opinions on the utility of these probabilistic tools, their strengths and limitations, and the remaining barriers that need to be overcome for their equitable use.
旨在预防疾病或早期发现和干预的公共卫生策略有可能促进全球人类健康。然而，它们的成功取决于确定一般人群疾病负担背后的风险因素。全基因组关联研究 (GWAS) 已经发现了数千个与常见复杂疾病或特征相关的单核苷酸多态性 (SNP)。通过计算个体携带的与特征相关等位基因的数量的加权总和，可以构建一个多基因评分 (PGS)，也称为多基因风险评分 (PRS)，反映个体对给定表型的估计遗传易感性。在这里，我们请六位专家就这些概率工具的效用、它们的优势和局限性以及为公平使用它们而需要克服的剩余障碍发表意见。
