To inform continuous and rigorous reflection about the description of human populations in genomics research, this study investigates the historical and contemporary use of the terms “ancestry,” “ethnicity,” “race,” and other population labels in The American Journal of Human Genetics from 1949 to 2018. We characterize these terms’ frequency of use and assess their odds of co-occurrence with a set of social and genetic topical terms. Throughout The Journal’s 70-year history, “ancestry” and “ethnicity” have increased in use, appearing in 33% and 26% of articles in 2009–2018, while the use of “race” has decreased, occurring in 4% of articles in 2009–2018. Although its overall use has declined, the odds of “race” appearing in the presence of “ethnicity” has increased relative to the odds of occurring in its absence. Forms of population descriptors “Caucasian” and “Negro” have largely disappeared from The Journal (<1% of articles in 2009–2018). Conversely, the continental labels “African,” “Asian,” and “European” have increased in use and appear in 18%, 14%, and 42% of articles from 2009–2018, respectively. Decreasing uses of the terms “race,” “Caucasian,” and “Negro” are indicative of a transition away from the field’s history of explicitly biological race science; at the same time, the increasing use of “ancestry,” “ethnicity,” and continental labels should serve to motivate ongoing reflection as the terminology used to describe genetic variation continues to evolve.

为了对基因组学研究中对人类群体的描述进行持续和严格的反思，本研究调查了《美国人类遗传学杂志》中“祖先”、“民族”、“种族”和其他群体标签的历史和当代使用情况从 1949 年到 2018 年。我们描述了这些术语的使用频率，并评估它们与一组社会和遗传主题术语同时出现的几率。纵观《华尔街日报》70年的历史，“祖先”和“种族”的使用量有所增加，在2009年至2018年的文章中分别出现了33%和26%，而“种族”的使用量有所减少，出现在4%的文章中2009-2018 年的文章数量。尽管其总体使用率有所下降，但相对于不存在“种族”的情况，出现“种族”的可能性有所增加。“白人”和“黑人”等人口描述词已基本从《华尔街日报》中消失（2009 年至 2018 年文章的比例低于 1%）。相反，2009 年至 2018 年期间，大陆标签“非洲”、“亚洲”和“欧洲”的使用量有所增加，分别出现在 18%、14% 和 42% 的文章中。“种族”、“高加索人”和“黑人”等术语的使用减少表明该领域已经摆脱了明确的生物种族科学的历史；与此同时，随着用于描述遗传变异的术语不断发展，越来越多地使用“血统”、“种族”和大陆标签应有助于激发持续反思。