Department of Anthropology, University of California San Diego, La Jolla, CA, USA.
Institute for Collaboration on Health, Intervention, and Policy (InCHIP), University of Connecticut, Storrs, CT, USA.
Behav Genet. 2024 Jan;54(1):34-41. doi: 10.1007/s10519-023-10162-x. Epub 2023 Oct 6.
Polygenic scores (PGS) are increasingly being used for prediction of social and behavioral traits, but suffer from many methodological, theoretical, and ethical concerns that profoundly limit their value. Primarily, these scores are derived from statistical correlations, carrying no inherent biological meaning, and thus may capture indirect effects. Further, the performance of these scores depends upon the diversity of the reference populations and the genomic panels from which they were derived, which consistently underrepresent minoritized populations, leading to poor fit when applied to diverse groups. There is also inherent danger of eugenic applications for the information gained from these scores, and general risk of misunderstandings that could lead to stigmatization for underrepresented groups. We urge extreme caution in use of PGS particularly for social/behavioral outcomes fraught for misinterpretation, with potential harm for the minoritized groups least likely to benefit from their use.
多基因评分（PGS）越来越多地被用于预测社会和行为特征，但存在许多方法学、理论和伦理方面的问题，这些问题极大地限制了它们的价值。这些评分主要是基于统计相关性得出的，没有内在的生物学意义，因此可能会捕捉到间接影响。此外，这些评分的性能取决于参考人群的多样性和它们所源自的基因组面板，而这些参考人群和面板始终低估了少数群体，导致在应用于不同群体时拟合度不佳。从这些评分中获得的信息也存在着优生学应用的固有危险，以及可能导致代表性不足的群体受到污名化的误解的一般风险。我们强烈呼吁谨慎使用 PGS，特别是对于那些容易被误解的社会/行为结果，对于那些最不可能从其使用中受益的少数群体，其潜在的危害可能更大。
