ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform

Area of Science:

• Genomic Medicine
• Clinical Genomics
• Bioinformatics Tools

Background:

• The Clinical Genome Resource (ClinGen) aims to centralize clinically relevant genetic knowledge.
• Broad adoption of ClinGen tools is crucial for advancing genomic medicine.
• Engaging international genetics communities is key for resource dissemination.

Purpose of the Study:

• To assess the sustained use of ClinGen tools, specifically the Variant Curation Interface (VCI).
• To evaluate the effectiveness of international training workshops in promoting ClinGen tool adoption.
• To analyze the organizational aspects and costs associated with deploying ClinGen VCI instances.

Main Methods:

• Conducted training workshops using the ClinGen Variant Curation Interface (VCI) with international genetics groups.
• Administered pre and post-workshop questionnaires to assess participant knowledge and intended tool use.
• Analyzed ClinGen tool usage data and evaluated the costs of creating dedicated VCI instances.

Main Results:

• Over 200 participants attended the workshops, with significant engagement from local scientists.
• Approximately 79% of participants expressed likelihood to use the VCI post-workshop, despite initial unfamiliarity with variant classification.
• Around 10% of participants created permanent VCI accounts, with estimated costs of $3 per VCI instance.

Conclusions:

• International workshops are effective in driving sustained use of ClinGen's variant curation tools.
• Engaging local scientists is vital for successful workshop deployment and tool adoption.
• Future efforts should consider tiered user groups and continued local engagement for optimal impact.