About the Discussion

@NEJM Ask the Authors & Experts: ClinGen — The Clinical Genome Resource

Special Report

ClinGen — The Clinical Genome Resource

Background

ClinGen represents a strong public-academic-private partnership that relies on collaboration between NIH and academic and commercial laboratories operating in both the research and clinical realms. ClinGen is also engaging numerous entities, including professional societies, to ensure the resources produced meet the expectations of the community. Its goals are:

  1. Share genomic and phenotypic data provided by clinicians, researchers, and patients through centralized databases for clinical and research use
  2. Standardize the clinical annotation and interpretation of genomic variants
  3. Implement evidence-based expert consensus for curating genes and variants
  4. Improve understanding of variation in diverse populations to realize interpretation of genetic testing on a global scale
  5. Develop machine-learning algorithms to improve the throughput of variant interpretation
  6. Assess the “medical actionability” of genes and variants
  7. Structure and provide access to genomic knowledge for use in EHR ecosystems
  8. Disseminate the collective knowledge and resources for unrestricted use in the community