Building the foundation for genomics in precision medicine

Excerpt mentioning ClinGen: Consistent with the Global Alliance for Genomics and Health framework, ClinGen has developed standardized consenting approaches (http://clinicalgenome.org/data-sharing/) for use in the clinical-care setting, which will enable sharing of genetic-test results and accompanying phenotypic data in the absence of research-study enrolment.

ClinGen manages the GenomeConnect patient portal, built on the Patient Crossroads platform, which allows individuals to share health and genetic information to form communities.

The ClinGen programme is building an authoritative central resource that defines the clinical relevance of genomic variants for use in precision medicine and research. The programme aims are to increase the rate of submission to ClinVar and to improve the content of ClinVar and other genomic resources through expert curation. ClinGen has worked together with ClinVar to create a ‘star system’ that defines the level of review for each variant that is submitted to ClinVar11. ClinGen working groups have been established in multiple clinical domains to curate gene–disease relationships and to interpret variants through expert consensus.