Community Knowledge Sharing

Clinical Genome Resource (ClinGen)

Investigators at Partners Healthcare Personalized Medicine are among a group of researchers involved in the Clinical Genome Resource (ClinGen), a recently developed effort by the National Institute of Health (NIH) to create a resource dedicated to collecting both clinical laboratory and research data from the hundreds of thousands of genetic tests performed each year for deposition into NCBI’s public ClinVar database. 

The goals of ClinGen include:

• Standardize clinical assessment of variants and deposition into ClinVar
• Improve algorithms for variant interpretation
• Develop a consensus process for identifying clinically relevant variants
• Curate genes and variants within multiple clinical domains
• Build a publically available portal for disseminating consensus information on clinically relevant genomic variants
• Explore ways to integrate genomic information into electronic health records

The Laboratory for Molecular Medicine fully supports public data sharing and has already contributed more than 6,900 variants and full interpretations to ClinVar. 

For more information about ClinGen please visit clinicalgenome.org or contact Danielle Metterville, MS, CGC at dmetterville@partners.org.