Exome sequencing in Diverse Populations in Colorado & Oregon

项目摘要/摘要：需要进行更多研究确定改进方法 患者和提供者理解、沟通和选择使用外显子组测序来 指导卫生保健决策。这些挑战在识字率有限的人群中进一步加剧 对结果有意义地理解或采取行动的其他障碍。为了解决这些问题，该项目将 招募60%的种族、民族和社会经济多元化的患者。拟议的项目是一个 延长我们的CSER1携带者检测项目，因为这两个项目都涉及筛查健康人 综合卫生系统，为评估下游卫生保健决策提供了独特的机会。 利用通过CSER1获得的涉众输入，项目目标是实现一个世袭的 垂直范围内18-50岁健康的初级保健机构的癌症风险评估计划 综合医疗服务系统(Kaiser Permanente)和联邦合格医疗中心(Denver Health) 并将1100名患者的外显子组测序与寻求常规治疗的患者的影响进行比较。该项目 将重点关注遗传性乳腺癌和卵巢癌以及林奇综合征，目前已建立 癌症预防的临床建议。我们将评估：1)外显子组测序的实施和 口译；2)量身定做的互动，包括情景化的同意流程，一种新的决策辅助 选择附加结果的任选类别，以及改进的结果披露方法和 遗传咨询；3)医学翻译工具(互动式网络教育)和初级保健 提供者(电子健康管理工具)；4)临床效用(医疗保健利用率和遵守 外显子组测序的主要结果和附加结果的个人效用；5) 计划的成本；以及6)考虑基因组个人效用的伦理和政策影响 关于医疗保险决定的信息。这支经验丰富的团队在CSER1中工作效率很高 并有能力成功地进行拟议的研究，拥有基因方面的专业知识 流行病学、医学遗传学、健康传播学、健康信息学、经济学、人类学、 生物统计学和生物伦理学。我们将让不同的利益相关者参与进来，包括患者、提供者和健康 系统管理员参与设计、实施和分析，并将采用人种学方法 评估研究团队的活动。我们独特的患者群体和集成的健康信息 系统将使我们能够调查外显子组测序与下游医疗保健利用的相关性 和成本。该项目的结果，利用已建立的临床遗传学范例，将提供 在服务不足和多样化的人群中解决获得外显子组测序机会的公平挑战的模式 未来可以应用于基因组医学的其他方面的患者。

PROJECT SUMMARY/ABSTRACT: More research is needed identify approaches to improve how patients and providers understand, communicate, and make choices about using exome sequencing to guide health care decisions. These challenges are further compounded in populations with limited literacy or other barriers to meaningfully understand or act upon results. To address these issues, this project will recruit >60% racially, ethnically, and socioeconomically diverse patients. The proposed project is an extension of our CSER1 project on carrier testing as both projects involve screening healthy people in integrated health systems to allow the unique opportunity to evaluate downstream health care decisions. Leveraging stakeholder input garnered through CSER1, the project objective is to implement a hereditary cancer risk assessment program in healthy 18-50 year-olds in primary care settings within vertically integrated health delivery systems (Kaiser Permanente) and a federal qualified health center (Denver Health) and compare the impact of exome sequencing in 1100 patients to patients who seek usual care. The project will focus on hereditary breast and ovarian cancer and Lynch syndrome, for which there are established clinical recommendations for cancer prevention. We will assess: 1) exome sequencing implementation and interpretation; 2) tailored interactions including a contextualized consent process, a novel decision aid for selecting the optional categories of additional results, and a modified approach to results disclosure and genetic counseling; 3) tools for medical interpreters (interactive web-based education) and primary care providers (electronic heath management tool); 4) the clinical utility (healthcare utilization and adherence to recommended care) and personal utility of primary and additional results from exome sequencing; 5) the costs of the program; and 6) the ethical and policy implications of considering personal utility of genomic information on decisions for health care coverage. This experienced team was highly productive in CSER1 and has the capability to successfully carry out the proposed research, with expertise in genetic epidemiology, medical genetics, health communications, health informatics, economics, anthropology, biostatistics, and bioethics. We will engage diverse stakeholders including patients, providers, and health systems administrators in the design, implementation, and analyses and will employ ethnographic methods to assess the research team activities. Our unique patient populations and integrated health information systems will allow us to investigate relevance of exome sequencing on downstream health care utilization and costs. The results of this project, which leverages an established clinical genetics paradigm, will provide a model to address challenges in equity for access to exome sequencing among underserved and diverse patients that can be applied to additional aspects of genomic medicine in the future.