Exploring Concepts of Population in Two Human Genetic Sample Collection Labs

描述（由申请人提供）：拟议的项目探索了一个新的方向，在我们的更大的研究使用人类遗传变异的研究，在寻找生物医学相关的遗传标记。广义上讲，新的附加项目和原来的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化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，我们正在调查人口的概念是如何在科学研究项目内部和之间的样本收集和分析操作。我们的研究方法主要包括民族志观察，访谈和文献分析，这将在拟议的研究中使用。拟议项目将研究如何收集和分析不同人类遗传变异研究的数据，以及科学工作的不同方面（例如样本收集设计和做法，数据统计分析等）影响遗传群体的定义和操作。我们特别感兴趣的是，科学家们努力避免在人类遗传变异研究中将种族等社会类别具体化，特别是因为它们与疾病变异研究有关。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其中收集DNA样本用于全基因组关联研究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，以与DNA分析过程进行比较，并将增加对我们目前研究地点所没有的几个族裔群体的研究。这些包括美国的个人群体，他们自我认同为拉丁美洲人/西班牙裔人，夏威夷原住民和日本人。 公共卫生相关性-拟议项目将调查人口概念在数据收集设计和实践中的概念化和可操作性，在人类遗传变异研究疾病相关遗传变异的前端。该研究旨在为健康相关的遗传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共卫生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.