About us
Learn how GA4GH helps expand responsible genomic data use to benefit human health.
Clinical Genomics Laboratory Community
Fosters collaboration, develops standards and best practices, and facilitates knowledge exchange among clinical genomics laboratories worldwide in order to enhance the accuracy and efficiency of genetic testing and analysis for the betterment of patient care.
In an era defined by rapid advancements in genomics and healthcare, the Clinical Genomics Laboratory Community (CGLC) will foster international discussion and consensus among clinical genomics laboratories of the global CGCL, transcending geographic boundaries and disciplinary silos, and forging an interconnected network of laboratories dedicated to advancing genomic medicine.
Are you a clinical genomics laboratory, or a platform or database that supports these laboratories, and interested in getting involved? If so, please complete a brief survey.
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Identified focus areas
- 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
Goals
- Enable and ensure alignment between clinical genomics laboratories around the world
- Encourage cross-institutional knowledge sharing to improve the accuracy and efficiency of genetic testing and analysis
- Develop and promote standards and best practices in clinical genomic laboratories that ultimately improve patient outcomes
- Support projects that aim to improve genomic resources in order to accurately inform genetic test interpretation
Activities
- Meet regularly to discuss pressing needs in the field of clinical genomics
- Form subgroups to address specific areas and collaborate with GA4GH Work Streams and partner programmes for further development, as needed
- Maintain an active mailing list to communicate, collaborate, and address of-the-minute questions from within the community as they arise