The Clinical Genome Resource - Expert Curation and EHR Integration

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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.