Clinical Genomics Laboratory Community

In an era defined by rapid advancements in genomics and healthcare, GA4GH and ClinGen have united to forge an interconnected network of laboratories dedicated to advancing genomic medicine. The Clinical Genomics Laboratory Community (CGLC) will foster international discussion and consensus among clinical genomics laboratories to transcend geographic boundaries and disciplinary silos. 

Are you a clinical genomics laboratory, or a platform or database that supports these laboratories, and interested in getting involved? Click "Join this community" in the righthand bar to get started.

• Genomic pipeline challenges — for example, migration to GRCh38, use of MANE transcripts, variant callers
• Electronic health record integration standards for clinical labs and healthcare providers
• Gene-disease validity resources for standardisation of disease-focused test panels and pathways to more quickly incorporate novel gene discoveries into clinical testing
• Standards for when to report Variants of Uncertain Significance (VUS) and Genes of Uncertain Significance (GUS) and use of VUS subclasses
• Clinical laboratory participation in, and data sharing with, ClinGen Variant Curation Expert Panels
• Approaches for contributing data to research
• Submission to ClinVar and related topics
• ClinGen Curation of ClinVar Project — a project to address inaccurate content in ClinVar
• Evolution of ClinGen’s lab list and genomic analysis software platform list
• Addressing racial and ethnic disparities in variant classification and genetic test data interpretation
• Harmonising consenting practices between clinics and laboratories 
• Implementing AI methodologies into the clinical laboratory for variant interpretation and reporting
• Developing a catalog of non-coding genes implicated in disease