Use of Genetics in Neurologists' Clinical Practices

描述(由申请人提供)：遗传医学最近的快速发展产生了这样的期望，即遗传评估将很快成为常规卫生保健不可或缺的一部分。然而，尽管这种做法具有广泛的临床意义，但很少有人从经验上关注将基因检测纳入常规诊断和管理程序的过程或后果。这项拟议的研究将结合定性和定量方法来检查影响神经科医生在临床实践中对遗传信息的看法和使用的因素，以及他们这样做的后果。我们的具体目标是：1)检查与成人起病运动障碍相关的遗传信息在常规临床护理期间如何或是否被传达。2)比较遗传学被纳入诊断过程的临床遭遇和没有被纳入诊断过程的临床遭遇。3)调查医生、有成人型运动障碍症状的患者及其家人如何概念化和使用遗传信息。4)探索实践环境中的变化在多大程度上限制或促进神经科医生向此类患者及其家属提供基因测试。神经学的实践是探索遗传信息被纳入临床程序的过程的理想环境。虽然诊断特定神经疾病的标准基因测试越来越多，但还不知道何时以及如何向特定患者提供这些测试。此外，这种遗传知识的性质和后果给神经科医生、患者和家属之间的标准临床关系带来了独特的担忧(即，了解遗传病的心理痛苦、职业和/或保险歧视，以及家庭风险的披露)。我们将研究为什么、如何、何时和由谁在医学互动中传达这些问题，以及特定的遗传信息如何影响患者和家属对症状的理解和处理。

DESCRIPTION (provided by applicant): Recent rapid developments in genetic medicine are creating the expectation that genetic assessments will soon become integral to routine health care. Yet while such practices stand to have far-ranging clinical implications, little empirical attention has been devoted to understanding the processes or consequences of incorporating genetic testing into routine diagnosis and management procedures. The proposed research will combine qualitative and quantitative methods to examine factors that shape neurologists' views about and use of genetic information in their clinical practice, and the consequences of their doing so. Our specific aims are to: 1) Examine how or if genetic information associated with adult-onset movement disorders is communicated during routine clinical care. 2) Compare clinical encounters where genetics is incorporated into the diagnostic process with those where it is not. 3) Investigate how physicians, patients with symptoms of adult-onset movement disorders, and their families conceptualize and use genetic information. 4) Explore the degree to which variation in practice setting acts to constrain or promote neurologists' offers of genetic testing to such patients and their families. The practice of neurology is an ideal setting in which to explore the processes by which genetic information is incorporated into clinical routines. While standard genetic tests to diagnose specific neurological diseases are becoming increasingly available, it is not yet known when and how these tests are offered to particular patients. In addition, the nature and consequences of this genetic knowledge introduces unique concerns into the standard clinical relationship between neurologists, patients, and families (i.e., psychological distress of learning about a hereditary disease, occupational and/or insurance discrimination, and disclosure of familial risk). We will examine why, how, when, and by whom these issues are communicated during medical interactions, and how specific genetic information affects patients' and family members' understandings about and management of symptoms.