Center for Undiagnosed Diseases at Stanford Administrative Supplement

斯坦福大学未确诊疾病中心行政增刊

• 批准号: 10677455
• 负责人: Euan A Ashley
• 金额: $ 45.32万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-14 至 2023-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10677455
• 关键词: Address; Administrative Supplement; Advocacy; Biological Assay; Caring; Clinical; Cohort Studies; Collaborations; Data; Data Analyses; Diagnosis; Diagnostic; Disease; Enrollment; Evaluation; Family; Family member; Foundations; Funding; Genes; Genetic Counseling; Genomics; Goals; Grant; Hospitals; Insurance; Language; Letters; Literature; Medical; Medical Records; Methods; Mission; Modeling; Molecular Diagnosis; Multilingualism; Participant; Patient Care; Patient advocacy; Patients; Peer Group; Phase; Phenotype; Philanthropic Fund; Population; Process; Provider; Rare Diseases; Recording of previous events; Research; Research Activity; Resources; Sampling; Site; Standardization; System; Technology; Testing; Time; Translational Research; Travel; Triage; Underinsured; Underrepresented Populations; Visit; Work; accurate diagnosis; base; clinical diagnosis; clinical practice; clinical research site; computerized tools; cost; data integration; data sharing; exome sequencing; experience; gene function; genome sequencing; genomic data; improved; member; metabolomics; multiple omics; novel; novel strategies; outreach; participant enrollment; patient engagement; phenotypic data; preservation; proband; programs; recruit; research clinical testing; safety net; sample collection; stem cell biology; technology development; telehealth; transcriptomics

ABSTRACT Although gene panels and exome and genome sequencing (GS) have enabled molecular diagnosis for many rare disease patients, a significantly large proportion of these patients remain undiagnosed. A combination of clinical expertise, advanced genomic and multi-omic technologies and efficient computational tools is needed for higher diagnostic yield. Lack of insurance or denial of test reimbursement by insurance further negatively impacts rare disease patients from underprivileged and economically weak backgrounds, making it critical to improve the outreach and diversity in rare disease study cohorts. The Center for Undiagnosed Diseases (CUD) at Stanford will continue our efforts toward sustainability, refinement of methods, and integration with regular clinical practice. Here, we propose a program of study that will (1) facilitate accurate diagnosis of patients with undiagnosed diseases, with emphasis on those without or with limited insurance or economical or language barriers; (2) use novel approaches in data analysis and integration of different ‘omes to improve diagnostic rates; and (3) enhance our understanding of the impact of diversity on the diagnostic process. In Aim 1, we propose to triage and enroll patients, complete clinical evaluations and associated work. This will include pre- visit chart review and genetic counseling followed by an individualized visit during which standardized phenotypic and environmental data are collected. Biosamples facilitate genomic, multi-omic, and cellular evaluation of disease. We will apply novel computational approaches for systematic integration of genomic, transcriptomic, metabolomic, and phenotypic data with the entire medical literature to improve diagnostic yield. We will continue our efforts to seek diagnosis using available resources for all participants. In Aim 2, we will focus on increasing participant diversity, engagement, and advocacy. This will be accomplished by expanding our local patient advocacy partnerships, including a local UDN PEER group. We aim to increase applications from underrepresented and underinsured patients through regional outreach to safety net hospital systems and providers. Further, our streamlined evaluations will increase access to underserved participants. Finally, we will prioritize onboarding multilingual staff to enhance participant experience.

抽象的 尽管基因组、外显子组和基因组测序 (GS) 已使许多疾病的分子诊断成为可能 罕见病患者中，很大一部分患者仍未确诊。的组合 需要临床专业知识、先进的基因组和多组学技术以及高效的计算工具 以获得更高的诊断率。缺乏保险或保险拒绝提供测试报销进一步产生负面影响 影响来自贫困和经济薄弱背景的罕见疾病患者，因此至关重要 改善罕见疾病研究队列的覆盖范围和多样性。未确诊疾病中心 (CUD) 斯坦福大学将继续努力实现可持续发展、改进方法以及与常规的整合 临床实践。在这里，我们提出了一项研究计划，该计划将 (1) 促进对患有以下疾病的患者进行准确诊断： 未确诊的疾病，重点关注那些没有保险或保险、经济或语言有限的疾病 障碍； (2) 使用新方法进行数据分析和不同组的整合，以改进诊断 费率； (3) 增强我们对多样性对诊断过程影响的理解。在目标 1 中，我们 建议对患者进行分诊和入组，完成临床评估和相关工作。这将包括预 访问图表审查和遗传咨询，然后进行个性化访问，在此期间进行标准化 收集表型和环境数据。生物样本促进基因组、多组学和细胞研究 疾病评估。我们将应用新颖的计算方法来系统整合基因组、 将转录组学、代谢组学和表型数据与整个医学文献结合起来，以提高诊断率。 我们将继续努力利用所有参与者的可用资源寻求诊断。在目标 2 中，我们将 注重增加参与者的多样性、参与度和宣传。这将通过扩展来实现 我们当地的患者倡导合作伙伴关系，包括当地的 UDN PEER 小组。我们的目标是增加应用 通过向安全网医院系统进行区域外展，避免代表性不足和保险不足的患者，以及 提供商。此外，我们简化的评估将增加服务不足的参与者的机会。最后，我们将 优先安排多语种员工入职，以增强参与者的体验。

项目成果

Caring for the Caregivers - Covid-19 Vaccination for Essential Members of the Health Care Team.

• DOI: 10.1056/nejmpv2101339
• 发表时间: 2021-03-04
• 期刊: The New England journal of medicine
• 作者: Halley MC;Mangurian C
• 通讯作者: Mangurian C