Genomics in the Clinic: Identity, Responsibility and Choice

描述（申请人提供）：基因组科学的最新进展伴随着巨大的期望，即我们正处于医学革命的边缘，其中多个基因和影响其表达的环境/行为因素之间复杂相互作用的遗传知识将重新定义疾病和健康，指导风险预测，疾病诊断和治疗策略。到目前为止，除了少数值得注意的例外，基因驱动诊断和治疗的前景在很大程度上仍然是理论上的。尽管如此，基因组概念已经吸引了科学界和普通公众的想象力，基因组概念越来越多地影响从业者和患者如何理解和解决疾病。目前的临床指南/标准通常假设遗传因素是许多慢性疾病的核心，而基因检测和治疗仅在大多数情况下处于发展阶段，许多人敦促使用种族/民族作为推定遗传因素的代表。与此同时，越来越常见的电子健康记录（EHR）及其嵌入式决策工具和质量监控系统，将此类指南/标准的临床应用编纂和系统化。虽然被热情地宣传为将促进和标准化优质医疗的有用创新，但人们对基因组概念如何被纳入EHR系统以及它们如何影响日常医疗保健，特别是对不同人群的影响知之甚少。 这项拟议的研究将探讨基因组概念和话语如何被整合到2型糖尿病的临床管理中。2型糖尿病是一种众所周知的对不同人群有不同影响的疾病。它也特别适用于基因组模式的护理：新兴的临床文献强调遗传学在糖尿病发病和管理中的作用，而家族史和生活方式的选择仍然是核心问题。使用民族志研究技术，拟议的研究将对比医生和病人的观点，以捕捉道德和实际 在日常护理中调用这些概念的维度。这项研究将在糖尿病管理中心进行，这些中心为不同的患者群体提供服务，最近已经引入了EHR。我们将采访临床医生和患者，观察临床互动，并审查EHR表格，记录和报告。我们预计，种族身份将被用作遗传变异的代理，并且这种使用将被编入EHR系统，这反过来又会对不同患者的临床决策和患者自我感知产生不同的影响。我们的具体目标是：1）检查从业者如何将基因组话语和概念纳入对管理慢性疾病的群体身份和个人责任的现有理解中; 2）了解患者对这些概念以及他们自己的身份，风险状况和治疗责任的解释;以及3）研究电子健康记录和相关技术如何纳入基因组话语和种族/民族差异的概念，以及它们对临床护理选择的影响，特别是因为它们可能对不同的患者群体产生不同的影响

DESCRIPTION (provided by applicant): Recent progress in genomic science has been accompanied by great expectations that we are on the verge of a medical revolution where genetic knowledge of the complex interaction between multiple genes and the environmental/behavioral factors impacting their expression, will redefine illness and health, guiding risk prediction, disease diagnosis and treatment strategies. As yet, with a few notable exceptions, the promise of genetically driven diagnoses and treatment remains largely theoretical. Still, genomic concepts have captured the imagination of the scientific community and lay public alike, and genomic concepts increasingly influence how practitioners and patients understand and address illness. Current clinical guidelines/standards commonly assume genetic factors are central to many chronic illnesses, and while genetic tests and treatments are only in the developmental stage for most conditions, many urge the use of race/ethnicity as a proxy for presumed genetic factors. At the same time, the increasingly common electronic health records (EHRs), and their imbedded decision tools and quality monitoring systems, codify and systematize clinical applications of such guidelines/standards. While enthusiastically heralded as useful innovations that will promote and standardize quality care, little is known about how genomic concepts are being incorporated into EHR systems, and how they in turn impact everyday health care, especially for diverse populations. The proposed study will examine how genomic concepts and discourse are being integrated into clinical management of type 2 diabetes. Type 2 diabetes is a disease well-known to differentially impact diverse populations. It is also especially apt for a genomic model of care: emerging clinical literature emphasizes the role of genetics in diabetes onset and management, while family history and lifestyle choices remain central concerns. Using ethnographic research techniques, the proposed study will contrast practitioner and patient perspectives to capture ethical and practical dimensions of invoking these concepts in everyday care. The study will be conducted in Diabetes Management Centers serving diverse patient populations, where EHRs have been recently introduced. We will interview clinicians and patients, observe clinical interactions, and review EHR forms, records and reports. We anticipate that racial identity will be used as a proxy for genetic variation, and that this usage will be codified into EHR systems, which in turn will differentially impact clinical decision-making and patient self-perception for diverse patients. Ou specific aims are: 1) Examine how practitioners incorporate genomic discourse and concepts into existing understandings of group identity and individual responsibility in managing chronic illness; 2) Understand patients' interpretations of these concepts and of their own identity, risk status and treatment responsibility; and 3) Examine how electronic health records and related technologies incorporate genomic discourse and concepts of racial/ethnic difference, and their effect on clinical care choices, especially as they may differentially impact diverse patient groups