The Role of Variant Interpretation in Precision Medicine Success
Sequencing generates data. But precision medicine depends on something more: interpretation.
Between a FASTQ file and a treatment decision lies a critical step: determining what the variants mean. And not just technically, but clinically. Without trusted interpretation, even the best sequencing platforms can’t produce reports that support patient care. That’s why variant interpretation isn’t just another bioinformatics step. It’s the hinge between genomic data and clinical action.
Clinical Confidence Starts with the Right Interpretation Strategy
Whether your lab is focused on pharmacogenomics, oncology, or hereditary risk, providers need to know:
- Which variants were found
- What they mean
- How that meaning maps to therapy, risk, or diagnosis
That doesn’t happen by exporting VCF files and hoping for the best. It happens through a repeatable, auditable interpretation process that aligns with clinical guidelines and evolves with the literature.
Why Manual or Homegrown Interpretation Doesn’t Scale
Some labs rely on spreadsheets or manual tagging for variant assessment. Others have stitched together a mix of open-source tools that require constant upkeep.
Both approaches create risk:
- Inconsistency between reviewers
- Lack of audit trail for CLIA/CAP validation
- Delays in updating gene-drug mappings or therapeutic recommendations
And when interpretation workflows differ by panel or analyst, the final report becomes unpredictable. That unpredictability can slow clinical confidence.
PraediGene: Built for Scalable, Transparent Interpretation
PraediGene integrates structured variant interpretation directly into the reporting pipeline. Using validated tools like PharmWatch (for PGx and known variants) and SylVIA (for rare or novel annotations), it delivers:
- Consistent logic across use cases
- Versioned outputs for auditability
- Clinician-ready summaries aligned with clinical guidelines
Whether you’re interpreting BRCA mutations or CYP2C19 variants, the output is the same: clear, usable, and reviewable at every step.
ARE YOU READY TO OWN YOUR VARIANT INTERPRETATION STRATEGY?
At its core, precision medicine is about collecting genomic data AND interpreting it in ways that make clinical sense. When your lab owns its variant interpretation strategy, you reduce risk, improve consistency, and make every report more actionable.