The Clinical Genome Resource (ClinGen), funded by the National Institutes of Health, has released data on over 2,700 genes curated for their relevance to genetic diseases. These include conditions such as cancer, cardiovascular disease, and neurodevelopmental disorders. The findings were published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics.
Since its inception in 2013 by the National Human Genome Research Institute, ClinGen has grown into a consortium with more than 2,500 experts from 69 countries and territories. These experts are organized into over 100 disease-specific panels that work to identify genes implicated in diseases and assess when medical actions are needed. The aim is to standardize genomic information for use in both medical practice and research.
As reported in the publication, as of January 2024, ClinGen experts have validated 2,420 gene-disease relationships and assessed dosage sensitivity for 1,557 genes. They have also made actionability assessments for 447 gene-condition pairs across various settings. Additionally, they have classified 5,161 unique pathogenic variants.
Dr. Sharon Plon stated: “The ClinGen resource creates a robust, open-access platform to support genomic interpretation in clinics and research labs around the world.” She emphasized that the knowledge generated can help build genetic testing panels and guide patient care.
Baylor College's role includes developing software infrastructure to support this initiative. Dr. Aleksandar Milosavljevic noted that their software engineering team created crucial computational infrastructure for the project: “These application programming interface-centric microservices break new ground in academic software development.”
The project is supported primarily by grants from the National Human Genome Research Institute and National Cancer Institute.
