Exploring Concepts of Population in Two Human Genetic Sample Collection Labs

描述（由申请人提供）：该项目为我们在利用人类遗传变异研究寻找生物医学相关遗传标记方面的更大规模研究探索了一个新的方向。总的来说，新附加项目和原项目的目的是了解人类遗传变异研究人员如何操作“人类种群”的概念。总之，这些研究将提供经验信息，帮助遗传学家和生物伦理学家了解不同概念是否可能产生潜在的下游社会和生物医学后果。通过这些研究，我们正在调查在科学研究项目内部和跨项目的样本收集和分析过程中，人口的概念是如何运作的。我们的研究方法主要包括民族志观察、访谈和文献分析，这些将在拟议的研究中使用。拟议的项目将研究如何收集和分析不同人类遗传变异研究中的数据，以及科学工作的不同方面（例如样本收集的设计和实践、数据的统计分析等）如何影响遗传种群的定义和操作。我们特别感兴趣的是科学家在人类遗传变异研究中避免社会类别物化的努力，例如种族，特别是当它们与疾病变异研究相关时。拟议的项目将提供来自两个实验室现场的数据，以补充我们目前正在研究的实验室现场。这两个新的位点对于理解从基因组关联研究中收集DNA样本的群体的选择如何影响研究人员操作人类群体概念的方式至关重要。它将提供有关DNA样本收集过程的信息，以便与DNA分析过程进行比较，并将增加对我们目前研究地点缺失的几个种族的研究。这些群体包括美国自称为拉丁美洲人/西班牙人、夏威夷原住民和日本人的个人群体。与公众健康的关系-拟议的项目将在有关疾病的遗传变异的人类遗传变异研究前端的数据收集设计和实践中，调查人口概念的概念化和操作化。这项研究旨在为与健康有关的基因研究提供更好的工具。拟议项目的目的是提供有助于提高这些与公众健康有关的遗传变异研究的可靠性的信息和分析。

DESCRIPTION (provided by applicant): The proposed project explores a new direction in our larger research on the use of human genetic variation studies in the search for biomedically related genetic markers. Broadly, the aim of the new add-on project and the original project is to understand how human genetic variation researchers operationalize the concept of "a human population." Together, these studies will provide empirical information that will help geneticists and bioethicists to understand whether there may be potential downstream social and biomedical consequences of different conceptualizations. Through these studies we are investigating how the concept of population is operationalized during sample collection and analysis both within and across scientific research projects. Our research methodology involves primarily ethnographic observation, interviews, and documentary analyses, which will be employed in the proposed study. The proposed project will study how data in different human genetic variation studies is collected and analyzed and how different aspects of scientific work (e.g. sample collection design and practices, statistical analysis of data, etc.) influences the definition and operationalization of genetic populations. We are especially interested in scientists' efforts to avoid the reification of social categories such as race in human genetic variation studies, especially as they relate to disease variant research. The proposed project will provide data from two laboratory field sites that complement the laboratory field sites we are currently studying. These two new sites are crucial for understanding how the selection of groups from whom DNA samples are collected for genome wide association studies impacts the way researchers operationalize the concept of human populations. It will provide information on DNA sample collection processes, for comparison with DNA analysis processes, and will add research on several ethnic groups that are absent from our current research sites. These include groups of individuals in the U.S. who self identify as Latinos/Hispanics, Native Hawaiians, and Japanese. PUBLIC HEALTH RELEVANCE - The proposed project will investigate the conceptualization and operationalization of the concepts of population in the data collection design and practices at the front end of human genetic variation research on disease related genetic variants. That research aims to provide better tools for health related genetic research. The aim of the proposed project is to provide information and analyses that will be useful towards improving the reliability of these public health-related genetic variation studies.