Better Data, Better Diagnoses: The Power of Shared Genomic Data
Genetic test results are only as reliable as the data behind them. That's why collaboration across the industry matters, inspiring a collective effort toward accurate diagnoses and better patient outcomes.
ClinVar is a public database that aggregates information about genomic variation and its relationship to human health. It was created to build consistency across labs and supports equitable access to genetic knowledge. Helix proudly commits to being a ClinVar contributor and we have begun executing on this commitment.
Why ClinVar exists
Classifying a genetic variant means determining whether a DNA change is pathogenic (disease-causing), benign, or currently of unknown significance. The American College of Medical Genetics and Genomics established guidelines for this process, using a point system based on published studies, gene function, and the frequency with which a variant occurs alongside disease, for which many databases may be used.
ClinVar helps address and minimize discrepancy in variant classification by creating a shared resource where labs submit their classifications and the evidence behind them. It's a tool for verification, alignment, and transparency.
Who benefits
Benefits of ClinVar are far-reaching across the industry.
For patients: When labs share information openly, test results may become more consistent, which can support clinicians in making more informed decisions.
For the medical community: This access to data helps improve lab accountability and physician confidence by providing more evidence for variant classifications.
For the field of genomics: Every submission contributes to a global effort to understand genetic variation. Insights from one individual’s data can inform variant classifications for others, supporting greater consistency across the industry.
Our commitment at Helix
The process of curating high-quality data for ClinVar submissions takes time and Helix is proud to have reached this milestone. Helix has built a process for contributing data to ClinVar, marking the start of an ongoing commitment, with next submissions already underway.
Helix recognizes the unique sensitivity of genomic information. Our submissions to ClinVar are limited to variant classifications and interpretive evidence, and do not include raw genomic sequences, protected health information, or data that directly identifies individual patients or research participants.
Traditionally, labs have mostly tested people with existing clinical indications. For example, a doctor may order genetic testing because a patient has cancer or a heart condition. Helix is committed to sharing variant classifications from our CLIA-certified diagnostic testing. We also contribute curated de-identified findings from our population genomics program, which includes data from individuals who have voluntarily consented to participate in research and who may not have a clinical indication, to help broaden the evidence base to more unaffected individuals for variant interpretation.
Submitting to ClinVar highlights Helix's dedication to transparency and encourages industry-wide collaboration. Promoting this practice fosters integrity and advances research for the entire genomics community. The genomics community is interconnected, and we're all working toward the same goal: advancing research and improving patient care for the greater good. It’s our mission at Helix to empower every person to improve their life through DNA. We believe in a world where everyone benefits from their genomic information.