Understanding the Relationships between Race, Ethnicity, Ancestry and Genomics

摘要： 这个项目考察了卫生专业人员在临床实践中对基因组医学的整合，以及对种族、民族和人类遗传变异之间关系的理解。该项目利用五种广泛的方法来解决这些问题：(1)使用定性的方法来探索初级保健医生对人类遗传变异的知识，关于种族、遗传学和疾病之间关系的信念，以及对基因组医学未来的看法(2)开发新的测量方法来评估卫生专业人员对人类遗传变异的知识和在临床护理中使用种族；(3)使用定量和实验方法来探索初级保健医生、执业护士和护士对人类遗传变异的知识；在临床护理中使用种族；关于种族、遗传学和疾病之间关系的信念；以及对基因组医学的未来的态度。 对于目标1，我们完成了10个焦点小组，由自认为是黑人和白人的普通内科医生组成。我们在《医学遗传学》(Bonham等人，2009；11：279-286)上报道，黑人和白人医生都认为患者的种族在临床实践中具有医学意义。一些医生报告说，它在提供对患者文化的洞察方面很重要，而另一些医生则表示，它为他们的筛查决定提供信息(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性程度和具体作用提出了相互矛盾的观点。我们的结果发现，黑人和白人医生都认为种族在医学上是相关的，包括对治疗决定，但两组都不愿在种族、基因和疾病之间建立联系(Frank等人，JGIM，2010)。所有的医生，无论他们自己的种族，都认为病史、家族史和体重对为患者做出治疗决定很重要。然而，黑人和白人医生报告了他们对种族相关性的不同看法(Snipes等人，BMC Health Services，2011年)。 对于目标2，我们开发了一个版本的人类遗传变异信念和知识量表(HGVB)和一个最终版本的Bonham和Sellers临床评估种族评估量表(RACE量表)。 对于目标3，我们进行了一项全国性调查，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。这是第一次探索医生对种族、遗传学及其在临床决策中的使用的此类调查。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，在临床评估中使用Bonham和Sellers种族评估“种族量表”是临床医生在评估遗传易感性和临床决策时使用种族的内部可靠测量(CronbachsAlpha=0.86)(Bonham等人)。BMC卫生服务研究，2014)。第三阶段调查提供了有关在初级保健实践中整合新的基因组测试的定量数据。例如，18%的受访医生在前一年内从患者那里收到过至少一份DTC基因检测报告。接受住院医师遗传学培训的医生(P-Value&lt；0.05)以及将自己的遗传学知识评为优秀、非常好或良好(P-Value&lt；0.01)的医生更有可能报告收到这样的测试结果。我们发现，由于临床实践中的不确定性而导致的医生焦虑与自我报告的在医疗决策中使用种族之间存在正相关(Cunningham等人，医疗保健，2014)。 对于目标4，我们对来自种族和民族护理组织(Coleman等人，《护理学术杂志》，2014)的护士进行了一项全国性调查，这是一个国家护理组织(Calzone等人。个人化医学，2013)和国家磁石医院，以评估护士在基因组学方面的实践，人类遗传变异的知识，以及在临床评估中使用Bonham和Sellers种族评估的“种族量表”。 对于目标5，我们目前在现场进行虚拟临床环境研究中的个性化药物决策研究，这是一项全国性研究，使用虚拟临床交互实验来评估初级保健医生(医疗住院医生)对人类对种族、遗传学和疾病之间关系的遗传变异信念的了解，以及对使用华法林基因引导药物剂量的看法和知识。

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.