Mark(er)ing Race: An Ethnographic Study of Human Difference in Contemporary Genetics

这项研究得到了科学、技术和社会项目以及美国国家科学基金会生物理事会在生物和社会倡议下的支持，它指出，科学和社会在理解种族、人类变异和个体遗传风险方面正进入一个关键时刻。由于全基因组分析在公共和私营部门都得到了资助，科学家和普通公众仍然不清楚种族的社会分类与人类遗传变异之间的联系，因为这些变异与疾病风险有关。尽管如此，按照美国人口普查类别对DNA和其他生物标本进行分类的基因组研究，已成为基因组科学领域许多人可以接受的一种规范。当前列腺癌等常见的健康差异不成比例地影响美国少数族裔时，科学家如何应对这些问题上的“最佳实践”问题？身份的社会类别如何以及在什么条件下有效地筛选人类基因组特征的生物遗传差异？最后，作为基因研究目标的少数群体成员和有关的普通公民如何帮助塑造、修改或反对种族归属的基因用途？这些问题的答案与公众对科学的理解日益相关。本研究采用广泛的观察分析和对遗传学家和普通公众成员的采访，记录了人类变异基因研究的社会和科学扩展如何影响社会生活的关键领域。这些领域包括生物医学（通过绘制疾病风险图）、法律（通过建立法医DNA数据库）和人格（通过将身份标记定义为“祖先”）。这个人种学研究将开始回答的一个相关问题是，公众成员可能会或可能不会对他们的DNA的无数潜在用途感到满意。这项社会科学研究的一个相关主要组成部分将侧重于研究科学家的伦理实践，他们意识到出于生物和社会原因的多样化医疗包容的重要性，同时也有个人承诺赋予和代表作为不同社区成员的研究对象权力。在一个实验室里，呼吁推进遗传学研究对非裔美国人影响过大的疾病，在另一个实验室里，要求支持个性化基因组学的新技术成就，这两者被比较为主要遗传学家对其目标的个人表述与感知到的社会需求相结合。这项研究还调查了遗传学家的这种工作如何可能对某些社会群体的研究参与造成新的关注和限制。

This research, supported by the Science, Technology & Society program and the Biology Directorate at NSF under the Biology & Society initiative, notes that science and society are entering a pivotal moment with regard to understandings of race, human variation, and individual genetic risk. As genome-wide analyses are being funded in both the public and private sectors, scientists and members of the lay public remain unclear about the connections between social classifications of race and human genetic variation as these bear on disease risk. Nonetheless, genomic studies that sort DNA and other biological specimens by US census categories have become one acceptable norm for many in the genome sciences. How do scientists grapple with questions of "best practices" on these issues when common health disparities, such as prostate cancer, disproportionately affect US minorities? How, and under what conditions, are social categories of identity effective for sifting through biogenetic differences characteristic of the human genome? Finally, how do members of minority groups and concerned citizens of the lay public who are targeted for genetic studies help to shape, revise, or contest genetic uses of racial ascription? The answers to these questions are of increasing relevance to public understandings of science. This study employs extensive observational analyses and interviews with both geneticists and members of the lay public to chronicle how the societal and scientific expansion of genetic research on human variation influences key areas of social life. These areas include biomedicine (through disease risk mapping), law (through forensic DNA database building), and personhood (through identity markers framed as "ancestry"). One related question that this ethnographic study will begin to answer is how members of the public may or may not feel comfortable with the myriad potential uses to which their DNA can be put. A related major component of this social scientific study will focus on the ethical practices of research scientists who are mindful of the importance of diverse medical inclusion for biological and social reasons, while also having a personal commitment to empower and represent research subjects who are members of diverse communities. Appeals to advance genetics for conditions that disproportionately affect African-Americans, in one lab, and injunctions to support new technological feats of personalized genomics, in another, are compared as lead geneticists' personal articulations of their goals merge with perceived societal needs. This research also investigates how such work by geneticists may pose new concerns and constraints for the research participation of certain social groups.