2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Creation of a ClinGen Standard Operating Procedure to Guide Gene- and Disease- Specific Refinements of the ACMG/AMP Criteria

Creation of a ClinGen Standard Operating Procedure to Guide Gene- and Disease- Specific Refinements of the ACMG/AMP Criteria

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The Clinical Genome Resource (ClinGen) is currently developing a standard operating procedure (SOP) to guide the refinement of the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) criteria for gene and disease-specific evaluations of pathogenic genomic variants. ClinGen's Variant Curation Expert Panels (VCEPs) use the ACMG/AMP criteria as a basis for their evaluations but often need to make gene- and disease-specific modifications for accurate application. However, the lack of a formal methodology for this process has led to variability and inconsistency among panels, causing delays and extensive revisions. <br /><br />To address this issue, the SOP aims to reduce the time required for VCEPs to develop gene- and disease-specific modifications and minimize the need for extensive revisions. It also aims to streamline the assessment process by the Sequence Variant Interpretation (SVI) VCEP Review Committee, allowing them to focus on reviewing differences in approach or rationale warranted by the gene/disease context or that could improve existing methodology. <br /><br />Additionally, the SOP and accompanying resources, such as teaching slide decks and template forms, are intended to serve as educational materials for ClinGen VCEPs, as well as clinical laboratories and other groups looking to refine their internal practices based on ClinGen's globally recognized standards. <br /><br />The SOP will enable the documentation of supporting evidence, references, decision-making rationale, and final specifications in a consistently formatted way, making the review and approval process simpler. It will also provide guidance on evidence concepts, allowable usages, common misconceptions, and recommended approaches to specification. It will include "default" and example specifications to guide decision-making and improve consistency among VCEPs.

Asset Subtitle

Presenting Author - Alicia B. Byrne, PhD; Co-Author - Steven M. Harrison, PhD, FACMG; Co-Author - Heidi L. Rehm, PhD;

Meta Tag

Education

Genetic Testing

Methodology

Co-Author Steven M. Harrison, PhD, FACMG

Co-Author Heidi L. Rehm, PhD

Presenting Author Alicia B. Byrne, PhD

Keywords

Clinical Genome Resource

ClinGen

standard operating procedure

SOP

American College of Medical Genetics and Genomics

ACMG

Association for Molecular Pathology

AMP

gene-specific evaluations

disease-specific evaluations