Date of Release: January 4, 2021
Expiration Date: December 31, 2021
Educational Credits Offered: CME, P.A.C.E.®,NSGC Category 2 (Self-report)
Estimate Time of Completion: 10 hours per curation
Course must be completed by the expiration date

Overview

The Clinical Genome Resource (ClinGen https://www.clinicalgenome.org/tools/clingen-gene-disease-validity-curation-module) is an NIH-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

In 2017, ClinGen published “Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource” (Strande et al. 2017, PMCID: PMC5473734). The framework involves evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease. This framework 1) defines the criteria needed to assess clinical validity, 2) describes the evidence supporting a gene-disease association in a semi-quantitative manner, and 3) allows biocurators to use this information to methodically classify the validity of a given gene-disease pair.

ClinGen forms Gene Curation Expert Panels (GCEPs) to implement the approved process of gene-disease validity evaluation. Each GCEP is focused on a particular disease area (for example, hereditary cancer, intellectual disability/autism, hearing loss, etc.) and includes members with clinical care, research, and diagnostic laboratory expertise within that domain, as well as biocurators with experience in the gene-disease validity process. In most cases, a biocurator completes the initial gene-disease curation and arrives at a provisional classification, followed by presentation of the data to the GCEP for expert review and final approval. GCEPs utilize the ClinGen Gene Curation Interface (GCI) for documentation of gene-disease validity classifications, and all curations completed by the group are made publicly available through the ClinGen website (https://www.clinicalgenome.org/tools/clingen-gene-disease-validity-curation-module).

Learning Objectives

• Use the ClinGen gene-disease clinical validity curation process to evaluate the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease
• Perform a literature search to identify relevant publications to support a gene curation
• Score collected/collated evidence in the ClinGen GCI to determine a provisional classification for a gene-disease pair based on guidelines
• Present evidence summary supporting provisional classification for expert approval
• Publish approved gene curation to clinicalgenome.org

For the purpose of this module, learning objectives will be demonstrated by the learner by submitting a ClinGen GCEP-approved gene-disease curation final evidence summary published on clinicalgenome.org.

Each curation has been approved for up to 10 hours of credit. You may submit up to 10 curations per year. Please complete a separate module for each curation you are submitting.

Target Audience

This ClinGen Gene-Disease Validity Curation module is intended to provide learners with educational credit for participating in ClinGen gene curation activities and is available to individuals who are existing members of ClinGen GCEPs and have had at least one gene curation previously approved by a ClinGen GCEP. 

For questions about eligibility and content, please contact clingen@clinicalgenome.org. For technical questions, please contact education@acmg.net.