Martschenko Daphne O, Young Jennifer L
Center for Biomedical Ethics, School of Medicine, Stanford University, Stanford, CA, United States.
Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, United States.
Front Genet. 2022 Apr 26;13:795992. doi: 10.3389/fgene.2022.795992. eCollection 2022.
Precision medicine offers a precious opportunity to change clinical practice and disrupt medicine's reliance on crude racial, ethnic, or ancestral categories by focusing on an individual's unique genetic, environmental, and lifestyle characteristics. However, precision medicine and the genomic studies that are its cornerstone have thus far failed to account for human diversity. This failure is made clearer when looking at individuals who encapsulate a mosaic of different genetic ancestries and do not fit neatly into existing population labels. This piece argues that precision medicine continues to rely on the same forms of crude categorization it seeks to unsettle. Until the scientific community creates inclusive solutions for individuals who fall outside or between our existing population labels, precision medicine will continue to fall short in its aims.
精准医学提供了一个宝贵的机会来改变临床实践，并打破医学对粗略的种族、民族或祖先类别划分的依赖，而是专注于个体独特的基因、环境和生活方式特征。然而，精准医学及其作为基石的基因组研究至今未能考虑到人类的多样性。当我们审视那些融合了不同遗传血统、无法简单归入现有群体标签的个体时，这种失败就更加明显了。本文认为，精准医学继续依赖于它试图打破的那种粗略分类形式。除非科学界为那些不属于或介于我们现有群体标签之间的个体创造出包容性的解决方案，否则精准医学在实现其目标方面将继续存在不足。
