Exome sequencing in Diverse Populations in Colorado & Oregon

科罗拉多州不同人群的外显子组测序

• 批准号: 10375996
• 负责人: Michael C Leo
• 金额: $ 171.06万
• 依托单位: KAISER FOUNDATION RESEARCH INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-03-20 至 2023-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10375996
• 关键词: 3-Dimensional; Address; Adherence; Administrator; Adult; Affect; Anthropology; Bioethics; Biometry; Caring; Categories; Clinical; Colorado; Computerized Medical Record; Consent; Cost Analysis; Data; Decision Aid; Decision Making; Diagnosis; Disclosure; Economics; Education; Ethical Analysis; Ethics; Federally Qualified Health Center; Future; Genetic; Genetic Counseling; Genomic medicine; Genomics; Health; Health Information System; Health system; Healthcare; Healthcare Systems; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary Malignant Neoplasm; Hereditary Neoplastic Syndromes; Hereditary Nonpolyposis Colorectal Neoplasms; Individual; Logistics; Malignant Neoplasms; Measures; Medical; Medical Genetics; Medicine; Modeling; Online Systems; Oregon; Outcome; Participant; Patients; Policy Analysis; Population; Population Heterogeneity; Primary Health Care; Process; Provider; Public Health Informatics; Recommendation; Reporting; Research; Risk; Risk Assessment; Services; System; Technology; Testing; Underserved Population; Variant; cancer prevention; care providers; clinical practice; cost; design; ethnographic method; exome; exome sequencing; experience; genetic epidemiology; health assessment; health care delivery; health care service utilization; health communication; health disparity; improved; literacy; novel; patient population; policy implication; practice setting; primary care setting; program costs; programs; racial and ethnic; recruit; response; socioeconomics; tool; treatment as usual

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.

项目摘要/摘要：需要更多的研究来确定改善如何改善的方法 患者和提供者理解，交流和选择使用外显子组测序 指导医疗保健决策。这些挑战在识字率有限或 有意义地理解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 达到许多（魅力）项目的评估已在种族，种族上招募> 60％ 社会经济多样的患者。魅力的目的是实施遗传性癌症风险 在垂直整合健康中，健康18-50岁的健康状况的评估计划 送货系统（Kaiser Permanente）和联邦合格的健康中心（丹佛健康）并进行比较 外来测序对寻求常规护理的患者的影响。该项目将重点放在遗传性乳房上 以及卵巢癌和林奇综合征，为此有针对的临床建议 预防癌症。我们将评估：1）外显子测序实施和解释； 2）量身定制 互动包括上下文化的同意过程，这是选择可选的新决策辅助 额外结果的类别，以及改进的结果披露和遗传咨询的方法； 3） 医疗口译员的工具（基于Web的教育）和初级保健提供者（电子荒地 管理工具）; 4）临床公用事业（医疗保健利用和遵守推荐的护理）和 外显子测序的主要和其他结果的个人实用性； 5）该计划的费用；和6） 考虑基因组信息对决策的个人实用性的道德和政策含义 医疗保健覆盖范围。这个经验丰富的团队的生产力很高，并且具有 成功地进行拟议的研究，具有遗传流行病学，医学遗传学专业知识， 健康通信，健康信息学，经济学，人类学，生物统计学和生物伦理学。我们有 在设计中包括患者，提供者和卫生系统管理员在内的各种利益相关者，包括患者，提供者和卫生系统管理员 实施，分析并将采用民族志方法来评估研究团队活动。 我们独特的患者人群和综合健康信息系统将使我们能够调查 外显子测序与下游医疗保健利用率和成本的相关性。这个项目的结果， 利用已建立的临床遗传学范式，将提供一个模型来应对 在服务不足和多样的患者中获得外显子组测序的权益，可以应用于 未来基因组医学的其他方面。