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.

摘要

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