Understanding the Relationships between Race, Ethnicity, Ancestry and Genomics

这个项目检查患者和卫生专业人员对种族、民族和遗传学之间关系的理解。该项目采用三种广泛的方法来解决这些问题：(1)制定一个量表，以评估个人对种族、族裔和遗传学的了解；(2)收集定性和定量的数据，以了解目前对种族、族裔、血统、身份和遗传学之间的关系的信念、使用和知识；(3)制定关于种族、族裔、血统和遗传学的科学政策和医学教育的理论框架。 对于目标1，开展了三个经验性分项目，为我们正在用来指导制定人类遗传变异和信念量表的概念框架的制定提供了信息。其中两个项目使用了AAFP对1035名家庭医生进行的基于网络的调查数据，以分析医生对种族和遗传学的看法。作为调查的一部分，我们随机安排家庭医生去看一位假想的黑人或白人女性患者，年龄36岁，正在寻求受孕前咨询。我们发现，只有31%的医生会提供受孕前基因筛查。有趣的是，看黑人病人的医生(35%)比看白人病人的医生(26%)更有可能提供筛查(p&lt；0.01)。这表明，除了临床医生在临床决策中使用启发式方法或患者特征分析的其他有充分记录的情况外，他们很可能在基因测试中也这样做。 我们在《社区遗传学》(2008；11(6)：352-8)上报告了AAFP调查的结果，这些结果与医生对健康差异的归因有关。我们发现，当家庭医生被呈现两种健康差异的情景(一种与性别有关，另一种与种族/民族有关)时，他们更有可能将健康结果中的种族/民族差异归因于环境而不是性别差异(4.6比3.6(p&lt；.001)。医生还认为种族/民族和性别在他们的临床决策中同样重要(分别为4.4和4.6)。我们在本文中得出的结论是，虽然家庭医生不认为种族和民族健康差异是遗传上预先决定的，但他们确实相信种族和民族如何影响他们的患者健康。 在目标1的第三个子项目中，我们对多种族患者进行了22次访谈，以表征他们对遗传变异的信念和知识，以及他们在临床遭遇中与种族的经历。我们在《社会力量》(2007；86(2)：795-820)中报告，大多数参与者认为他们的种族通常被认为是黑人，他们指出，这种假设经常被转移到他们的医疗记录中。这些项目正在指导我探索概念框架内的因素。 对于目标2，我们已经完成了10个焦点小组。我们发现，黑人和白人医生都得出结论，在临床实践中，患者的种族与医学相关。一些内科医生报告说，它在提供对患者文化的洞察方面很重要，另一些医生则表示，它为筛查决定提供信息(例如，前列腺特异性抗原)。他们对种族在临床决策中的相关性程度和具体作用提出了相互矛盾的观点。他们不愿在种族、基因和疾病之间建立联系。 综上所述，该研究项目的上述结果表明，种族和遗传学在临床决策中的使用还没有得到很好的理解。在此基础上，我们初步编制了人类遗传变异信念量表(HGVB)。关于目标3，我们进行了32次认知访谈，并举行了两个专家咨询小组，就该工具的规模改进和网络可用性提供指导。 对于目标4，我们将在2008-2009年开展一个遗传研究人员的试验性定性分项目，探索他们在人类遗传研究中使用种群描述符，包括他们有机会以一种新的方式描述和分组其研究人群的实验。我们使用定性的方法来捕捉研究人员在他们的研究中批判性地思考包括种族和民族在内的人口标签的使用时的观点和做法。了解个别科学家对不同分类在不同背景下的优缺点的看法，将为帮助定义和促进在人类基因研究中适当使用种群描述符提供重要数据。

This project examines patients and health professionals understanding of the relationships between race, ethnicity and genetics. The project utilizes three broad approaches to address these issues: (1) development of a scale to assess individuals understanding of race, ethnicity and genetics; and (2) qualitative and quantitative data collection to understand the current beliefs, use and knowledge of the relationships between race, ethnicity, ancestry, identity and genetics; and (3) development of a theoretical framework for science policy and medical education on race, ethnicity, ancestry and genetics. For Aim 1, three empirical sub-projects were conducted which have informed the development of a conceptual framework we are using to guide development of the Human Genetic Variation and Beliefs Scale. Two of these projects used data from the AAFP web-based survey of 1035 family physicians to analyze physicians views on race and genetics. As part of the survey, we randomized family physicians to see a hypothetical black or white female patient, age 36 who was seeking pre-conception counseling. We found that only 31% of all physicians would offer pre-conception genetic screening. Interestingly, physicians who saw a black patient were more likely to offer screening (35%) than physicians who saw the white patient (26%) (p<0.01). This suggests that in addition to other well-documented occurrences of clinicians use of heuristics or patient profiling in their clinical decision-making, they are likely to do the same with genetic testing. We report in "Community Genetics",(2008;11(6):352-8)the results from the AAFP survey related to physicians attributions for health disparities. We found that when family physicians were presented with two scenarios for health disparities (one related to gender, and one for race/ethnicity), they were significantly more likely to attribute racial/ethnic differences in health outcomes to the environment than to gender differences (4.6 vs. 3.6 (p<.001). Physicians also rated race/ethnicity and gender as equally important in their clinical decision-making (4.4 and 4.6, respectively). We conclude in this article that while family physicians do not think racial and ethnic health disparities are genetically predetermined, they do have beliefs about how race and ethnicity influences their patients health. In the third sub-project of Aim 1, we conducted 22 interviews with multiracial patients to characterize their beliefs and knowledge about genetic variation and their experiences with race in their clinical encounters. We report in "Social Forces",(2007; 86 (2): 795-820) that the majority of participants felt that their race was commonly assumed to be black and they noted that this assumption was often transferred to their medical records. These projects are guiding my exploration of the factors within the conceptual framework. For Aim 2, we have completed 10 focus groups. We found that both black and white physicians concluded that the race of the patient is medically relevant in clinical practice. Some physicians reported that it was important in providing insights into a patients culture others stated it informs screening decisions (e.g. prostate-specific antigen). They offered conflicting views on the degree of relevance and the specific role of race in clinical decision-making. They were reticent to make connections among race, genetics, and disease. Taken together, the above results of this program of research suggest that the use of race and genetics in clinical decision-making is not well understood. Based on this body of work, we have developed a preliminary version of the Human Genetic Variation Beliefs Scale (HGVB). With respect to Aim 3, we have conducted 32 cognitive interviews and held two expert advisory panels to provide guidance in scale refinement and web usability of the instrument. For Aim 4, we will conduct in 2008-2009 a pilot qualitative sub-project of genetic researchers, exploring their use of population descriptors in human genetic research, including an experiment in which they have the opportunity to describe and group their study populations in a new way. We use qualitative methods to capture researcher's opinions and practices as they think critically about the use of population labels including race and ethnicity in their studies. Understanding individual scientists opinions about the strengths and weaknesses of different classifications in various contexts will provide important data to help define and facilitate appropriate use of population descriptors in human genetic research.