ClinGen's GenomeConnect registry enables patient-centered data sharing

Area of Science:

• Genomics
• Bioinformatics
• Patient Registries

Background:

• The Clinical Genome Resource (ClinGen) established GenomeConnect to facilitate patient engagement in genomic data sharing.
• Patient participation is crucial for building a comprehensive genomic knowledge base for clinical care and research.

Purpose of the Study:

• To evaluate the benefits and impact of patient-driven data sharing through the GenomeConnect registry.
• To highlight the value of patient-contributed genomic and phenotypic data for public databases.

Main Methods:

• GenomeConnect collects self-reported health information and genomic variants from patient genetic testing reports.
• Data is curated and shared with public databases, primarily ClinVar.
• Participant engagement in data sharing, variant updates, and community matching was assessed.

Main Results:

• 47.9% of shared variants were novel to ClinVar, demonstrating patients as a key data source.
• Enhanced phenotypic data was provided for 52.1% of variants already in ClinVar.
• 97.3% of participants opted for variant classification updates, and 60.4% engaged in participant matching.

Conclusions:

• Patient engagement in registries like GenomeConnect significantly contributes novel genomic data and detailed phenotypes to public resources.
• GenomeConnect offers benefits including data sharing, phenotype enhancement, variant update notifications, and community connections.
• Future plans include expanding patient-centric data sharing through partnerships to further benefit patients and the genomics community.