The Clinical Genome Resource - Expert Curation and EHR Integration

临床基因组资源 - 专家管理和 EHR 集成

• 批准号: 9759954
• 负责人: JONATHAN S BERG
• 金额: $ 329.74万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-09-12 至 2021-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9759954
• 关键词: Accelerated Phase; Address; American; Area; Attention; Basic Science; Clinical; Clinical Data; Clinical Medicine; Clinical Research; Clinical assessments; Communication; Communities; Complex; Computer software; Consensus; Consent; Data; Dedications; Development; Diagnosis; Disease; Ecosystem; Electronic Health Record; Ensure; Genes; Genetic; Genetic Predisposition to Disease; Genetic Variation; Genome; Genomic medicine; Genomics; Goals; Health; Healthcare; Human; Human Genetics; Human Genome; Human Genome Project; Incentives; Individual; Infrastructure; International; Knowledge; Laboratories; Leadership; Link; Literature; Medical; Medical Genetics; Medicine; Mendelian disorder; National Human Genome Research Institute; Nature; Pathogenicity; Patients; Physicians; Policies; Positioning Attribute; Prenatal Diagnosis; Prevention; Procedures; Process; Protocols documentation; Public Health; Reproducibility; Research; Research Personnel; Resources; Source; Standardization; Structure; Technology; Testing; Thinking; Update; Variant; cancer care; central database; clinical care; clinically relevant; data modeling; data sharing; evidence base; falls; federated computing; genetic information; genetic variant; genome sciences; genome-wide; genomic data; health care delivery; human disease; informatics infrastructure; innovation; interoperability; knowledge base; medical schools; method development; novel; novel strategies; phenotypic data; repository; response; success; tool; trait; working group

Project Summary/Abstract – Overall Fundamental advances in genetic sequencing technologies were stimulated by the human genome project and are now in turn transforming genome science and medicine. Yet the promise of genomic medicine remains limited by the lack of definitive sources of information about the genetic contributions to disease. Although many groups are attempting to address this gap individually, such efforts will ultimately fall short if they remain disconnected. The ClinGen Resource represents a collaborative effort of the genetics community to establish an evidence-based resource for the assessment of the clinical relevance of genes and variants. This knowledge base is critical for confident, efficient analysis and interpretation of genome-scale sequence data. The objective is to provide a publicly available consensus summary of the evidence from the medical literature, basic science researchers, and clinical laboratories regarding the genes and variants that are implicated in human health and disease. Dedicated portals will be provided for researchers, clinical laboratories, physicians, patients, and electronic health records to ensure that the resource is widely accessible. The consortium of investigators will accomplish this objective by pursuing five specific aims: 1) Share genomic and phenotypic data between clinicians, researchers, and patients through centralized and federated databases for clinical and research use; 2) Develop and implement standards to support clinical annotation and interpretation of genes and variants; 3) Develop data standards, software infrastructure and computational approaches to enable curation at scale and facilitate integration into healthcare delivery; 4) Enhance and accelerate expert review of the clinical relevance of genes and variants; and 5) Disseminate and integrate ClinGen knowledge and resources to the broader community. The proposal innovates by utilizing novel approaches for the assessment of genes and variants that are robust and reproducible, and by establishing an ecosystem of expert curation groups that apply standardized procedures, with mechanisms for updating and reanalysis. The proposal is forward-thinking in that attention will be paid to ensuring the interoperability of the resource with diverse end-users, including electronic health records. The proposed resource project is significant because it will provide freely available expert curation of the human genome across a substantial number of clinical domains, with a transparent and evidence-based approach.

项目概要/摘要-总体 人类基因组刺激了基因测序技术的根本性进步 该项目现在正在反过来改变基因组科学和医学。然而，基因组学的前景 医学仍然受到缺乏关于遗传学的确切信息来源的限制。 对疾病的贡献。虽然许多团体正试图单独解决这一差距， 如果这些努力仍然脱节，最终将功亏一篑。ClinGen资源代表 遗传学界的合作努力，为遗传学建立一个以证据为基础的资源， 评估基因和变异的临床相关性。这一知识基础对于以下方面至关重要： 自信、高效地分析和解释基因组规模的序列数据。目标是 提供来自医学文献的证据的公开共识总结，基本 科学研究人员和临床实验室关于基因和变异， 人类健康和疾病。将为研究人员、临床实验室、 医生、患者和电子健康记录，以确保资源被广泛访问。 研究者联盟将通过追求五个具体目标来实现这一目标： 临床医生、研究人员和患者之间的基因组和表型数据， 用于临床和研究的联合数据库; 2）制定和实施标准，以支持 基因和变异的临床注释和解释; 3）开发数据标准，软件 基础设施和计算方法，以实现规模化管理，并促进集成到 4）加强和加速基因临床相关性的专家审查， 变体;以及5）将ClinGen知识和资源传播和整合到更广泛的 社区该提案通过利用新的方法评估基因进行创新， 通过建立专家策展小组的生态系统， 采用标准化程序，并有更新和重新分析机制。该提案 前瞻性思维，将注意确保资源的互操作性， 不同的最终用户，包括电子健康记录。拟议的资源项目意义重大 因为它将提供免费的人类基因组专家策展， 通过透明和基于证据的方法，在许多临床领域开展工作。