Understanding the Relationships between Race, Ethnicity, Ancestry and Genomics

总结： 该项目研究了卫生专业人员在临床实践中整合基因组医学，并了解种族，民族和人类遗传变异之间的关系。该项目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）开发新的措施来评估卫生专业人员对人类遗传变异的知识和临床护理中种族的使用。（3）采用定量和实验方法探讨初级保健医生、执业护士和护士对人类遗传变异的认识;种族在临床护理中的使用;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态度。 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”（博纳姆等人，2009; 11：279-286），黑人和白色医生都认为患者的种族在临床实践中是医学相关的。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定（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）的一个版本和临床评价量表（RACE量表）中的博纳姆和塞勒斯种族评估的最终版本。 对于目标3，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。这是同类调查中第一次探索医生对种族、遗传学及其在临床决策中的应用的理解。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，临床评价中使用博纳姆和塞勒斯种族评估“种族量表”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 α = 0.86）（博纳姆等人，BMC Health Services Research，2014）。 第三阶段调查提供了关于在初级保健实践中整合新的基因组检测的定量数据。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。我们确定了由于临床实践中的不确定性而引起的医生焦虑与自我报告的在医疗决策中使用种族之间的正相关（Cunningham等人，医疗保健，2014年）。 对于目标4，我们对种族和民族护理组织的护士进行了一项全国性调查（科尔曼等人，Journal of Nursing Scholarship，2014）、国家护理组织（Calzone et al. Personalized Medicine，2013）和国家磁铁医院，以评估护士在基因组学方面的实践、人类遗传变异的知识以及临床评价“RACE量表”中博纳姆和塞勒斯种族评估的使用。 对于目标5，我们目前正在该领域进行虚拟临床环境研究中的个性化医疗决策，这是一项全国性研究，使用虚拟临床相互作用实验评估初级保健医生（住院医师）对人类遗传变异的认识，关于种族，遗传学和疾病之间的关系，以及关于使用基因型指导的华法林和舍曲林药物给药的观点和知识。

Summary: This project examines health professionals integration of genomic medicine in their clinical practice and understanding of the relationships among race, ethnicity, and human genetic variation. The project utilizes five broad approaches to address these issues: (1)The 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 new measures to assess health professionals knowledge of human genetic variation and use of race in clinical care; (3) The use quantitative and experimental methods to explore primary care physicians', nurse practitioners and nurses knowledge of human genetic variation; use of race in clinical care; beliefs about the relationships among race, genetics, and disease; and attitudes about the future of genomic medicine. For Aim 1, we have completed 10 focus groups with self-identified black and white general internists. We report in "Genetics in Medicine" (Bonham et al., 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 version of the Human Genetic Variation Beliefs and Knowledge Scale (HGVB) and a final version of the Bonham and Sellers Racial Assessment in Clinical Evaluation Scale (RACE Scale). For Aim 3, 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 Bonham and Sellers 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 (Bonham et al. BMC Health Services Research, 2014). The Phase III survey provided 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. We identified a positive association between physicians anxiety due to uncertainty in clinical practice and self-reported use of race in medical decision making (Cunningham et al., Medical Care, 2014). For Aim 4, we conducted a national survey of nurses who are members of racial and ethnic nursing organizations, (Coleman et al., Journal of Nursing Scholarship, 2014) a national nursing organization (Calzone et al. Personalized Medicine, 2013) and national magnet hospitals to evaluate the nurses practice in genomics, and knowledge of human genetic variation and use of the Bonham and Sellers Racial Assessment in Clinical Evaluation "RACE Scale". For Aim 5, we are currently in the field to conduct the Personalized Medicine Decision-Making in a Virtual Clinical Setting Study a national study using a virtual clinical interaction experiment to assess primary care physicians (medical residents) knowledge of human genetic variation beliefs about the relationships among race, genetics, and disease and views and knowledge about the use of genotype-guided drug dosing for warfarin and sertraline.