Understanding the Relationships between Race, Ethnicity, Ancestry and Genomics

总结： 该项目旨在研究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。本研究主要采用五种方法来解决这些问题：（1）使用定性方法来探讨初级保健医生对人类遗传变异的知识，对种族、遗传和疾病之间关系的信念，以及对基因组医学未来的看法。（2）开发一个量表来评估卫生专业人员对种族、民族和遗传的理解。（3）审查研究人员在使用人口描述符（包括种族和族裔类别）方面的做法和意见，并在其基因组研究中描述其研究参与者的特征;（4）采用定量方法探讨初级保健医生对人类遗传变异的认识，对种族、遗传和疾病之间关系的信念，以及对基因组医学未来的看法;（5）探索遗传和基因组检测（携带者筛查）向社会的转化。 对于目标1，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）中报告，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。我们的研究结果发现，黑人和白色医生都认为种族在医学上是相关的，包括治疗决定，但两组人都不愿意在种族、遗传和疾病之间建立联系（Frank et al.，JGIM，2010）。所有的医生，无论他们自己的种族，都认为病史，家族史和体重对患者的治疗决策很重要。 然而，黑人和白色医生报告说，他们对种族相关性的看法存在差异（Snipes等人，BMC Health Services，2011）。 对于目标2，我们开发了人类遗传变异信念和知识量表（HGVB）的初步版本和临床评价量表（RACE量表）的种族评估的最终版本。 对于目标3，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。了解科学家个人对不同人群分类的优势和劣势的看法以及研究政策对描述符使用的影响，将提供重要数据，帮助定义和促进人类遗传研究中人群描述符的适当使用（Knerr et al. Journal of Medicine，Law and Ethics，2011）。 对于目标4，我们进行了一项全国性调查，在该调查中，我们对来自美国各地的1738名普通内科医生进行了随机抽样，对最终的HP基因调查进行了评估。共有787名普通内科医生完成了调查，最终回复率为45%。 我们的验证性因素分析表明，临床评价中种族评估“RACE量表”的使用是临床医生使用种族评估遗传易感性和临床决策的内部可靠指标（Cronbachs alpha = 0.86）。 第三阶段调查提供了关于在初级保健实践中整合新基因组检测的第一个定量数据。例如，18%的受访医生在过去一年内至少收到过一份DTC基因检测报告。 在住院医师中接受过遗传学培训的医生（p值< 0.05）以及将自己的遗传学知识评定为优秀、非常好或良好（p值<0.01）的医生更有可能报告收到了这样的测试结果。 对于目标5，我们试图告知目前关于镰状细胞携带者状态的靶向携带者筛查计划的辩论（博纳姆VL et.等人，N Engl J Med.2010）。 我们正在对镰状细胞携带者临床并发症的科学数据进行系统的文献综述。 该综述将作为科学，临床和政策社区的资源。系统性文献综述研究正在进行中。 我和我的团队已经确定了3,300条独特的引文。 在根据标题和摘要的审查排除后，我们纳入了408项已发表的研究和250份病例报告。 对于目标6，我们寻求研究可能引发SCD患者腿部溃疡发作和愈合的微生物、遗传修饰剂、环境和社会因素的组合。我们将通过使用基因组方法来测试这一假设，以了解微生物组在溃疡形成和愈合中的作用，以及测量可能影响腿部溃疡和愈合过程风险的社会和环境因素。

Summary: This project examines patients and health professionals understanding of the relationships among race, ethnicity, and genetics. The project utilizes five broad approaches to address these issues: (1)To use qualitative methods to explore primary care physicians' knowledge of human genetic variation, beliefs about the relationships among race, genetics, and disease, and views about the future of genomic medicine (2) The development of a scale to assess health professionals understanding of race, ethnicity, and genetics; (3) To examine researchers' practices and opinions surrounding the use of population descriptors, including racial and ethnic categories, and to characterize their study participants in their genomic research studies; (4) To use quantitative methods to explore primary care physicians' knowledge of human genetic variation, beliefs about the relationships among race, genetics, and disease, and views about the future of genomic medicine; and (5) Explore the translation of genetic and genomic testing (carrier screening) to society. For Aim 1, 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. Our results found that both black and white physicians believe that race is medically relevant, including for therapy decisions, but both groups were reticent to make connections among race, genetics, and disease (Frank et al., JGIM, 2010). All physicians regardless of their own race believed that medical history, family history, and weight were important for making treatment decisions for the patient. However, black and white physicians reported differences in their views about the relevance of race (Snipes et al., BMC Health Services, 2011). For Aim 2, we have developed a preliminary version of the Human Genetic Variation Beliefs and Knowledge Scale (HGVB) and a final version of the Racial Assessment in Clinical Evaluation Scale (RACE Scale). For Aim 3, 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 had 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 population classifications and the influence that research policies have on the use of descriptors will provide important data to help define and facilitate appropriate use of population descriptors in human genetic research (Knerr et al. Journal of Medicine, Law and Ethics, 2011). For Aim 4, we conducted a national survey where we evaluated the final HP GENE Survey with a random sample of 1738 general internists from across the U.S. This is the first survey of its kind to explore physicians understanding of race, genetics, and its use in clinical decision making. A total of 787 general internists completed the survey for a final response rate of 45%. Our confirmatory factor analyses show that the use of Racial Assessment in Clinical Evaluation "RACE Scale" is an internally reliable measure (Cronbachs alpha = 0.86) of clinicians use of race in assessing genetic predispositions and clinical decision-making. The Phase III survey provided the first quantitative data regarding the integration of new genomic tests in primary care practice. For example, 18% of the physicians surveyed had received at least one DTC genetic test report from a patient within the previous year. Physicians who received genetics training in residency (p-value < 0.05) as well as physicians who rated their own knowledge of genetics as excellent, very good, or good (p-value <0.01) were more likely to report having received such test results. For Aim 5, we seek to inform the current debate on targeted carrier screening programs for sickle cell carrier status (Bonham VL et. al. N Engl J Med. 2010). We are conducting a systematic literature review of the scientific data on clinical complications of sickle cell carrier status. This review will serve as a resource for the scientific, clinical, and policy communities. The systematic literature review study is ongoing. I and my team have identified 3,300 unique citations. After exclusions based on reviews of titles and abstracts, we are including 408 published studies and 250 case reports. For Aim 6, we seek to study a combination of factors: microbial, genetic modifiers, environmental, and social that likely trigger the onset and healing of leg ulcers in SCD patients. We will test this hypothesis by using genomic approaches to understand the role of the microbiome in ulcer formation and healing as well as measuring social and environmental factors that may influence ones risk for developing leg ulcers and the healing process.