Points to consider for sharing variant-level information from clinical genetic testing with ClinVar

Area of Science:

• Genomics
• Bioinformatics
• Clinical Medicine

Background:

• Genomic data sharing (GDS) is crucial for advancing genomic medicine and precision health.
• The Clinical Genome Resource (ClinGen) promotes GDS and evaluates gene/variant clinical relevance.
• Existing policies address research data sharing but lack clarity for clinical testing data.

Purpose of the Study:

• To develop guidance for clinical laboratories on sharing de-identified genomic variant data.
• To address data sharing from clinical testing in light of NIH GDS policy and Common Rule updates.
• To propose specific data elements for submission to ClinVar without explicit patient consent.

Main Methods:

• Collaboration between ClinGen, ClinVar, and the National Human Genome Research Institute.
• Review of existing policies on genomic data sharing and informed consent.
• Development of recommendations for data elements and consent strategies.

Main Results:

• Identification of specific variant-level data elements suitable for ClinVar submission.
• Definition of scenarios where direct patient consent is recommended for data sharing.
• Proposal of a framework for sharing de-identified clinical genomic data.

Conclusions:

• Clearer guidelines are needed for sharing clinical genomic data to facilitate research.
• A balance can be struck between data utility for advancing genomic medicine and patient privacy.
• The proposed points to consider aid clinical laboratories in navigating data sharing requirements.