The Clinical Genome Resource - Expert Curation and EHR Integration

临床基因组资源 - 专家管理和 EHR 集成

基本信息

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
项目类别：
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

项目摘要

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.

项目总结/摘要——总体人类基因组刺激了基因测序技术的根本性进步项目，现在正在改变基因组科学和医学，然而基因组学的前景。由于缺乏有关遗传的明确信息来源，医学仍然受到限制尽管许多团体正在尝试单独解决这一差距，但如果它们保持断开连接，最终将达不到要求。遗传学界的合作努力，为遗传建立基于证据的资源该知识库对于评估基因和变异的临床相关性至关重要。目标是对基因组规模的序列数据进行自信、有效的分析和解释。提供医学文献证据的公开共识摘要、基本证据科学研究人员和临床实验室有关相关基因和变异的信息将为研究人员、临床实验室、医生、患者和电子健康记录，以确保资源可广泛访问。研究人员联盟将通过追求五个具体目标来实现这一目标：1）分享圣人、研究人员和患者之间的基因组和表型数据通过集中和供临床和研究使用的联合数据库；2) 制定和实施支持标准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，以实现大规模管理并促进集成 4) 加强和加速专家对基因和临床相关性的审查 5) 将 ClinGen 知识和资源传播并整合到更广泛的领域该提案通过利用新的方法来评估基因和进行创新。强大且可重复的变体，并通过建立专家管理小组的生态系统应用标准化程序，并具有更新和重新分析的机制。前瞻性思维，将关注确保资源与不同的最终用户，包括电子健康记录拟议的资源项目意义重大。因为它将免费提供对人类基因组的大量专家管理多个临床领域，采用透明且基于证据的方法。