Understanding the Relationships between Race, Ethnicity, Ancestry and Genomics

了解种族、民族、血统和基因组之间的关系

• 批准号: 7968907
• 负责人: Vence L Bonham
• 金额: $ 29.13万
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7968907
• 关键词: Address; Age; Belief; Categories; Characteristics; Classification; Clinical; Cognitive; Collection; Communication; Communities; Conceptions; Conflict (Psychology); Counseling; Data; Decision Making; Descriptor; Development; Empirical Research; Environment; Ethnic Origin; Family Physicians; Female; Focus Groups; Future; Gap Junctions; Gender; Genetic; Genetic Identity; Genetic Research; Genetic Risk; Genetic Screening; Genetic Variation; Genetic screening method; Genomics; Health; Health Professional; Hereditary Disease; Human Genetics; Human Genome; Individual; Internet; Internist; Interview; Knowledge; Label; Learning; Measures; Medical Education; Medical Records; Medicine; Methods; Online Systems; Outcome; Participant; Patients; Physicians; Population; Population Study; Primary Care Physician; Prostate-Specific Antigen; Public Health; Qualitative Methods; Race; Randomized; Reporting; Research; Research Personnel; Role; Sampling; Science Policy; Scientist; Screening procedure; Sex Characteristics; Surveys; Testing; Variant; Work; base; clinical practice; experience; health disparity; heuristics; insight; instrument; programs; racial and ethnic; racial/ethnic difference; research study; social; usability

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) the development of a scale to assess health professionals understanding of race, ethnicity and genetics; and (2) the collection of qualitative and quantitative data to understand the lay public and health professionals current beliefs, use and knowledge of the relationships between race, ethnicity, ancestry, identity and genetics; and (3) the 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 and 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 (See Bonham VL, et al. Patient physician characteristics and primary care physician decision making in preconception genetic screening "Public Health Genomics" in press). 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 with self-identified black and white general internists. We report in "Genetics in Medicine", (2009; 11:279-286) that both black and white physicians believed that the race of a patient is medically relevant in clinical practice. Some physicians reported that it was important in providing insights into a patients culture while others stated that it informs their screening decisions (e.g. prostate-specific antigen). Physicians 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. In 2009 we piloted the scale with a national random sample of 363 physicians to further test and refine the survey instrument. For Aim 4, we conducted 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 used qualitative methods to capture researchers 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. For Aim 5, we will explore the lay public views of identity, ancestry, race, ethnicity and genetics to integrate what we learn from health professionals with the lay public's knowledge and views. The objective of this aim is to inform the communication of genetic risk health messages and reporting of research findings.

该项目检查了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，以评估保健专业人员对种族、族裔和遗传学的理解;（2）收集定性和定量数据，以了解非专业公众和保健专业人员目前对种族、族裔、血统、身份和遗传学之间关系的信念、使用和知识;以及（3）为关于种族、民族、血统和遗传学的科学政策和医学教育制定理论框架。 对于目标1，进行了三个实证子项目，并为我们用于指导人类遗传变异和信仰量表开发的概念框架的开发提供了信息。 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，我们随机选择了家庭医生，让他们去看一个假设的黑人或白色女性患者，年龄36岁，正在寻求孕前咨询。 我们发现，只有31%的医生会提供孕前遗传筛查。 有趣的是，看过黑人病人的医生（35%）比看过白色病人的医生（26%）更有可能提供筛查（p<0.01）。 这表明，除了临床医生在其临床决策中使用遗传学或患者分析的其他有据可查的事件之外，他们可能对基因检测也这样做（参见博纳姆VL等人，Patient physician characteristics and primary care physician decision making in preconception genetic screening“Public Health Genomics”，出版中）。 我们在“社区遗传学”（2008;11（6）：352-8）中报告了来自AAFP调查的结果，该调查与医生对健康差异的归因有关。 我们发现，当家庭医生面临两种健康差异的情景时（一种与性别有关，另一种与种族/民族有关），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 vs. 3.6（p<.001））。 医生还将种族/民族和性别评定为在其临床决策中同等重要（分别为4.4和4.6）。 我们在这篇文章中得出的结论是，虽然家庭医生不认为种族和民族的健康差异是遗传预定的，他们有种族和民族如何影响他们的病人的健康信念。 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，以描述他们对遗传变异的信念和知识以及他们在临床遇到的种族经历。我们在“社会力量”（2007; 86（2）：795-820）中报告说，大多数参与者认为他们的种族通常被认为是黑人，他们注意到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对概念框架内的因素的探索。 对于目标2，我们已经完成了10个焦点小组与自我认定的黑人和白色一般内科医生。 我们在“Genetics in Medicine”（2009; 11：279-286）中报道，黑人和白色医生都认为患者的种族在临床实践中具有医学相关性。 一些医生报告说，它在提供对患者文化的见解方面很重要，而另一些医生则表示，它可以告知他们的筛查决策（例如前列腺特异性抗原）。 医生们对种族在临床决策中的相关程度和具体作用提出了相互矛盾的观点。他们不愿将种族、遗传和疾病联系起来。 综上所述，本研究项目的上述结果表明，种族和遗传学在临床决策中的应用还没有得到很好的理解。 在此基础上，我们开发了人类遗传变异信念量表（HGVB）的初步版本。 关于目标3，我们进行了32次认知访谈，并举行了两次专家咨询小组会议，为量表的改进和网络可用性提供指导。 2009年，我们在全国随机抽取了363名医生，对该量表进行了试点，以进一步测试和完善调查工具。 对于目标4，我们在2008-2009年进行了一个遗传研究人员的试点定性子项目，探索他们在人类遗传研究中使用群体描述符，包括一个实验，他们有机会以新的方式描述和分组他们的研究群体。我们使用定性方法来捕捉研究人员的意见和做法，因为他们在研究中批判性地考虑使用人口标签，包括种族和民族。了解科学家个人在不同背景下对不同分类的优缺点的看法，将提供重要的数据，以帮助定义和促进在人类遗传研究中适当使用群体描述符。 对于目标5，我们将探讨公众对身份，血统，种族，民族和遗传学的看法，将我们从卫生专业人员那里学到的知识与公众的知识和观点结合起来。 其目的是为遗传风险健康信息的传播和研究结果的报告提供信息。