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进方法 患者和提供者了解、沟通并就使用外显子组测序做出选择 指导医疗保健决策。这些挑战在识字率有限或文化程度有限的人群中更加复杂。 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 评估惠及大众 (CHARM) 项目已招募了超过 60% 的种族、族裔和 社会经济多样化的患者。 CHARM 的目标是降低遗传性癌症风险 垂直整合健康初级保健机构中 18-50 岁健康人群的评估计划 交付系统 (Kaiser Permanente) 和联邦合格的健康中心 (Denver Health) 并进行比较 外显子组测序对寻求常规护理的患者的影响。该项目将重点关注遗传性乳房 卵巢癌和林奇综合征，对此有明确的临床建议 癌症预防。我们将评估：1）外显子组测序的实施和解释； 2）量身定制 互动，包括情境化同意过程、用于选择选项的新颖决策辅助 额外结果的类别，以及结果披露和遗传咨询的改进方法； 3） 医疗口译员工具（交互式网络教育）和初级保健提供者（电子健康 管理工具）； 4) 临床效用（医疗保健利用和遵守推荐护理）和 外显子组测序的主要结果和附加结果的个人效用； 5) 计划的费用；和 6) 考虑基因组信息对决策的个人效用的伦理和政策影响 医疗保健覆盖范围。这个经验丰富的团队生产力很高，并且有能力 凭借遗传流行病学、医学遗传学方面的专业知识，成功开展拟议的研究， 健康传播、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 让包括患者、提供者和卫生系统管理员在内的不同利益相关者参与设计， 实施、分析并将采用人种学方法来评估研究团队的活动。 我们独特的患者群体和综合健康信息系统将使我们能够进行调查 外显子组测序与下游医疗保健利用和成本的相关性。这个项目的结果， 它利用已建立的临床遗传学范式，将提供一个模型来应对挑战 在服务不足和多样化的患者中公平地获得外显子组测序，可应用于 未来基因组医学的其他方面。

项目成果

Participant Reactions to a Literacy-Focused, Web-Based Informed Consent Approach for a Genomic Implementation Study.

参与者对以扫盲为重点、基于网络的基因组实施研究知情同意方法的反应。

• 发表时间: 2021-01
• 作者: Kraft, Stephanie A;Porter, Kathryn M;Duenas, Devan M;Guerra, Claudia;Joseph, Galen;Lee, Sandra Soo;Shipman, Kelly J;Allen, Jake;Eubanks, Donna;Kauffman, Tia L;Lindberg, Nangel M;Anderson, Katherine;Zepp, Jamilyn M;Gilmore, Marian J;Mitte
• 通讯作者: Mitte

Evaluation of mailed results versus telephone disclosure of normal cancer genetic test results in a low-risk underserved population.

在服务不足的低风险人群中，对邮寄结果与电话披露正常癌症基因检测结果进行评估。

• 发表时间: 2024-01-08
• 影响因子: 3.6
• 作者: Gilmore, Marian J;Leo, Michael C;Amendola, Laura M;Goddard, Katrina A B;Hunter, Jessica Ezzell;Joseph, Galen;Kauffman, Tia L;Rolf, Bradley;Shuster, Elizabeth;Zepp, Jamilyn M;Wilfond, Benjamin S;Biesecker, Barbara B
• 通讯作者: Biesecker, Barbara B

Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium.

多样化和医疗服务不足人群的基因组测序结果披露：CSER 联盟的主题、挑战和策略。

• 发表时间: 2021-03-13
• 作者: Suckiel, Sabrina A;O'Daniel, Julianne M;Donohue, Katherine E;Gallagher, Katie M;Gilmore, Marian J;Hendon, Laura G;Joseph, Galen;Lianoglou, Billie R;Mathews, Jennifer M;Norton, Mary E;Odgis, Jacqueline A;Poss, Alexis F;Rego, Shannon;Scollon, S
• 通讯作者: Scollon, S

I know Things Now: The Challenges for Genetic Counseling of Adolescents with a Family History of Hereditary Breast Cancer.

我现在知道了：有遗传性乳腺癌家族史的青少年遗传咨询面临的挑战。

• 发表时间: 2022-12
• 作者: Wilfond; Benjamin S
• 通讯作者: Benjamin S

Research to reduce inequities in cancer risk services: Insights for remote genetic counseling in a pandemic and beyond.

减少癌症风险服务不平等的研究：大流行及其他情况下远程遗传咨询的见解。

• 发表时间: 2021
• 作者: Lee, Robin;Frick, Miya;Joseph, Galen;Guerra, Claudia;Stewart, Susan;Kaplan, Celia;Dixit, Niharika;Tsoh, Janice Y;Flores, Selena;Pasick, Rena J
• 通讯作者: Pasick, Rena J