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. In this Viewpoint, we asked six experts to give their opinions on the utility of polygenic scores, their strengths and limitations, and the remaining barriers that need to be overcome for their equitable use.

中文翻译：

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生物医学研究中的多基因评分


旨在疾病预防或早期发现和干预的公共卫生战略有可能促进全世界人类健康。然而，他们的成功取决于对普通人群疾病负担的风险因素的识别。全基因组关联研究 (GWAS) 表明，常见的复杂疾病或性状中存在数千个单核苷酸多态性 (SNP)。通过计算个体所拥有的性状相关等位基因数量的加权总和，可以构建多基因评分（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倾向。在这里，我们请六位专家就这些概率工具的实用性、它们的优点和局限性以及公平使用它们需要克服的剩余障碍发表意见。在本观点中，我们请六位专家就多基因评分的实用性、其优点和局限性以及公平使用需要克服的其余障碍发表意见。