Curating the Clinical Genome 2024 ePoster Gallery-Assessing ClinGen Expert Panel Use of ACMG Guidelines and ClinGen Guidance on Evidence Code Combing Rules to Inform the Transition to New Curation Frameworks

Assessing ClinGen Expert Panel Use of ACMG Guidelines and ClinGen Guidance on Evidence Code Combing Rules to Inform the Transition to New Curation Frameworks

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The document discusses the collaboration between ACMG, AMP, CAP, and ClinGen to develop new guidelines for the clinical classification of genomic variants. It focuses on the importance of structured VCEP specifications in transitioning to new curation frameworks and the use of evidence codes and combining rules. The study evaluated 48 specification documents from various VCEPs and highlighted the significant variation in the use of ACMG guidelines and combining rules. Some VCEPs made major modifications to the ACMG guidelines, including adopting the Bayesian points system. The document emphasizes the need for new classification approaches and the incorporation of SVI recommendations in VCEP specifications. <br /><br />The evaluation revealed that many VCEPs have unique combinations or exclusions in their specifications, indicating a wide range of adaptations to the ACMG guidelines. The document suggests that understanding the current trends in VCEP specifications can aid in transitioning to the new ACMG/ClinGen/AMP/CAP version 4 guidelines. Through the structured capture of specifications in tools like the CSpec Registry, analysis of trends in specifications can inform the development of new guidelines. Overall, the document stresses the importance of standardized and transparent specification data to facilitate the adoption of new curation frameworks and guidelines in genomics.

Keywords

ACMG

AMP

CAP

ClinGen

clinical classification

genomic variants

VCEP specifications

evidence codes

combining rules

Bayesian points system