ClinGen variant curation interface workshops: Training variant scientists on an international platform.

Area of Science:

• Genomic Medicine
• Clinical Genetics
• Bioinformatics

Background:

• The Clinical Genome Resource (ClinGen) aims to centralize clinically relevant genetic knowledge for genomic medicine.
• Effective dissemination and community uptake of ClinGen tools are crucial for their impact.

Purpose of the Study:

• To assess the impact and sustained use of ClinGen variant classification tools.
• To evaluate international engagement strategies, specifically through workshops in India, Africa, and Singapore.
• To analyze the organizational aspects and costs associated with dedicated ClinGen Variant Curation Interface (VCI) instances.

Main Methods:

• Development and analysis of pre and post workshop questionnaires.
• Tracking of ClinGen tool usage following the workshops.
• Evaluation of organizational factors and costs for creating dedicated VCI instances for each workshop.

Main Results:

• Over 200 participants attended, with significant engagement from local scientists.
• Approximately 79% of participants expressed likelihood to use the VCI post-workshop, despite ~55% initial unfamiliarity with variant classification.
• ~10% of participants created permanent accounts, indicating sustained interest.
• The estimated cost per dedicated VCI instance was approximately $3.

Conclusions:

• International workshops are effective in promoting sustained use of ClinGen's variant curation tools.
• Engaging local scientists is vital for successful workshop deployment and adoption.
• Future considerations include tailoring user groups by experience level to further enhance engagement.