Exome sequencing in Diverse Populations in Colorado & Oregon

项目总结/摘要：需要更多的研究来确定如何改善 患者和提供者了解、交流并选择使用外显子组测序， 指导医疗决策。这些挑战在识字率有限的人口中进一步加剧， 有意义地理解结果或根据结果采取行动的其他障碍。为了解决这些问题，癌症健康 评估达到许多（CHARM）项目已经招募了超过60%的种族，民族， 不同社会经济背景的患者。CHARM的目标是实现遗传性癌症风险 在垂直整合的卫生系统中，在初级保健环境中对18-50岁的健康人进行评估 交付系统（Kaiser Permanente）和联邦合格的健康中心（丹佛健康），并比较 外显子组测序对寻求常规治疗的患者的影响。该项目将重点关注遗传性乳房 卵巢癌和Lynch综合征，对于这些疾病， 癌症预防。我们将评估：1）外显子组测序的实施和解释; 2）定制 互动，包括情境化的同意过程，一个新的决策援助，选择可选的 其他结果的类别，以及结果披露和遗传咨询的修改方法; 3） 为医学口译员（基于网络的交互式教育）和初级保健提供者（电子保健）提供的工具 管理工具）; 4）临床效用（医疗保健利用率和对推荐护理的依从性），以及 来自外显子组测序的主要和附加结果的个人效用; 5）程序的成本;以及6） 考虑基因组信息对决策的个人效用的伦理和政策影响， 保健覆盖率。这支经验丰富的团队工作效率很高，有能力 成功地开展拟议的研究，具有遗传流行病学，医学遗传学， 卫生通信、卫生信息学、经济学、人类学、生物统计学和生物伦理学。我们有 让不同的利益相关者参与设计，包括患者，提供者和卫生系统管理员， 执行和分析，并将采用人种学方法来评估研究小组的活动。 我们独特的患者群体和综合健康信息系统将使我们能够调查 外显子组测序对下游医疗保健利用和成本的相关性。这个项目的成果， 它利用了一个既定的临床遗传学范式，将提供一个模型，以解决挑战， 公平获得外显子组测序服务不足和不同的患者，可适用于 未来基因组医学的其他方面。

PROJECT SUMMARY/ABSTRACT: More research is needed to 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, the Cancer Health Assessments Reaching Many (CHARM) project has recruited >60% racially, ethnically, and socioeconomically diverse patients. The objective for CHARM 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 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 has been highly productive 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 have engaged 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.