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The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

      ABSTRACT

      Purpose

      Several groups and resources provide information that pertains to the validity of gene–disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence base for the role of a gene in disease and a single harmonized resource were lacking. To tackle this issue, the Gene Curation Coalition (GenCC) was formed.

      Methods

      The GenCC drafted harmonized definitions for differing levels of gene–disease validity on the basis of existing resources, and performed a modified Delphi survey with 3 rounds to narrow the list of terms. The GenCC also developed a unified database to display curated gene–disease validity assertions from its members.

      Results

      On the basis of 241 survey responses from the genetics community, a consensus term set was chosen for grading gene–disease validity and database submissions. As of December 2021, the database contained 15,241 gene–disease assertions on 4569 unique genes from 12 submitters. When comparing submissions to the database from distinct sources, conflicts in assertions of gene–disease validity ranged from 5.3% to 13.4%.

      Conclusion

      Terminology standardization, sharing of gene–disease validity classifications, and resolution of curation conflicts will facilitate collaborations across international curation efforts and in turn, improve consistency in genetic testing and variant interpretation.

      Keywords

      GenePod

      May 27, 2022

      June 2022: Harmonizing gene–disease evidence resources globally

      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.

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