May 27, 2022

June 2022: Harmonizing gene–disease evidence resources globally

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As more and more genes are implicated in disease, one of the challenges in implementing genomics in medical practice has been the lack of a single, standardized, and shared genomics database, for both labs and clinicians to access. So a team of scientists joined together to create the Gene Curation Coalition, or GenCC, which includes participation from the developers of the leading publicly available genetics and genomics databases, such as OMIM, Orphanet, the Gene2Phenotype Database, and ClinGen, as well as those involved in curating data at commercial laboratories (which has not until now generally been publicly available). Marina DiStefano, PhD, FACMG and assistant professor at Geisinger in the precision health program, and Heidi Rehm, PhD, FACMG, chief genomics officer at Mass General Hospital and the co-director of the medical and population genetics program at the Broad Institute, and medical director of the Broad’s clinical lab, join this month’s GenePod to discuss the standardization process and the resulting database.