Clinical Genome Resource (ClinGen) Endorsed by FDA

UNC researchers were instrumental in the FDA recognition of the ClinGen expert curated human genetic data. In a press release, the FDA announced this first formal recognition of a public database of human genetic variants and their relationship to disease.

UNC researchers were instrumental in the FDA recognition of the ClinGen expert curated human genetic data.  In a press release, the FDA announced this first formal recognition of a public database of human genetic variants and their relationship to disease. Under the direction of Jonathan Berg, Associate Professor, Department of Genetics, UNC is a principal member of the ClinGen consortium funded by the NIH National Genome Research Institute (NHGRI).  A major aim of ClinGen (clinicalgenome.org) is to build an authoritative, publicly accessible, central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

The ClinGen Expert Curated Human Variant resource is designed to help assure accurate clinical interpretation of genomic test results. The FDA program recognition provides an excellent opportunity to improve public access to ClinGen’s expertly curated variant interpretations as well as the process and structured evidence supporting them.  Variant classifications are available for unrestricted use in the community via ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) , an archive that is funded and maintained by the National Center for Biotechnology Information, part of the National Library of Medicine.

Dr. Berg noted “Recognition of ClinGen by the FDA is a major step forward for genomic medicine, which we think will further demonstrate the value of data sharing and collaborative work by clinicians, researchers, and laboratorians.  This resource provides the first definitive reference for clinically relevant genomic variants, which will be continually expanded and updated by ClinGen variant curation expert panels.”

This effort was spearheaded through the ClinGen Regulatory workgroup led by Department of Genetics faculty members Julianne O’Daniel with contributions from Drs. Jonathan Berg, Bradford Powell, Laura Milko, and Jenny Goldstein.  Amanda Wood, with the NCTraCS Regulatory Team, provided logistical assistance to support the successful application submission.