Genomics in the Clinic: Identity, Responsibility and Choice

描述（由申请人提供）：基因组科学的最新进展伴随着巨大的期望，我们正处于一场医学革命的边缘，在这场革命中，多种基因之间复杂的相互作用以及影响其表达的环境/行为因素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，除了一些值得注意的例外，基因驱动的诊断和治疗的前景在很大程度上仍停留在理论阶段。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，并且基因组概念越来越多地影响从业者和患者如何理解和治疗疾病。目前的临床指南/标准通常认为遗传因素是许多慢性疾病的核心因素，而对于大多数疾病，基因检测和治疗仅处于发育阶段，许多人敦促使用种族/民族作为假定的遗传因素的代理。与此同时，越来越普遍的电子健康记录（EHRs）及其嵌入式决策工具和质量监测系统，将这些指南/标准的临床应用编纂和系统化。虽然人们热情地宣称基因组学的概念是有用的创新，将促进和标准化高质量的医疗保健，但人们对基因组学概念如何被纳入电子病历系统，以及它们如何反过来影响日常医疗保健，特别是对不同人群的医疗保健，知之甚少。拟议的研究将检查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影响不同的疾病。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选择仍然是关注的中心问题。利用民族志研究技术，拟议的研究将对比从业者和患者的观点，以捕捉伦理和实践

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