In March 2023, the National Academies of Sciences, Engineering, and Medicine (NASEM) released a consensus study report titled Using Population Descriptors in Genetics and Genomics Research¹. Sponsored by the US National Institutes of Health, the report is more than a discussion of the use of terminology; the authors of the NASEM report suggest a tectonic shift away from current models that use race, ethnicity, and geographic origin as proxies for genetic ancestry groups (that is, a set of individuals who share more similar genetic ancestries) in genetic and genomic science. The recommendations are rooted in evidence that genetic variation in individuals falls, in general, on a continuum of variation not captured well by existing population descriptors and that the ongoing use of such descriptors as analytical variables jeopardizes the scientific validity of research². Furthermore, the authors of the NASEM report point out that current scientific practices can sometimes perpetuate harmful typological thinking about individuals, including racism.

Shifting genetic and genomic science away from the pervasive and long-standing use of race, ethnicity, and geographic origins as tools for subdividing people presumed to have greater shared genetic ancestry will not be easy. The proposed changes have implications for genetic and genomic study design, data analysis, and results interpretation, and would require sustained support on the part of various stakeholders. The report offers a nuanced strategy to facilitate the shift, outlining a framework for behavior change for the field of human genetics founded on principles of respect, beneficence, equity and justice, validity and reproducibility, and transparency and replicability. These principles underlie the remaining three domains of the framework that include requisites for sustained change, specific guidance for the selection and use of population descriptors in genetics and genomics research, and strategies for implementation and accountability. A total of 13 recommendations are detailed in the report, each related to one of these domains. The recommendations encompass a wide variety of stakeholders in science from study participants to researchers to funders to biomedical journal editors.

2023年3月，美国国家科学、工程和医学院（NASEM）发布了题为《在遗传学和基因组学研究中使用群体描述符》的共识研究报告¹。该报告由美国国立卫生研究院赞助，不仅仅是对术语使用的讨论；NASEM 报告的作者提出，在遗传和基因组科学中，当前的模型使用种族、族裔和地理起源作为遗传祖先群体（即一组具有更相似遗传祖先的个体）的代表，这一模型将发生结构性转变。这些建议的依据是，有证据表明，个体的遗传变异总体上属于现有群体描述符无法很好捕捉的变异连续体，并且持续使用此类描述符作为分析变量会危及研究的科学有效性²。此外，NASEM 报告的作者指出，当前的科学实践有时可能会延续对个人的有害类型思维，包括种族主义。

改变遗传和基因组科学长期以来普遍使用的种族、族裔和地理起源作为对被认为具有更大共同遗传血统的人群进行细分的工具并不容易。拟议的变更对遗传和基因组研究设计、数据分析和结果解释产生影响，并且需要各利益相关者的持续支持。该报告提出了促进这一转变的细致入微的战略，概述了人类遗传学领域行为改变的框架，该框架建立在尊重、仁慈、公平和正义、有效性和可重复性以及透明度和可复制性原则的基础上。这些原则是框架其余三个领域的基础，包括持续变革的必要条件、遗传学和基因组学研究中群体描述符选择和使用的具体指导以及实施和问责策略。报告中总共详细介绍了 13 项建议，每项都与这些领域之一相关。这些建议涵盖了科学领域的各种利益相关者，从研究参与者到研究人员，从资助者到生物医学期刊编辑。