How Labs Interpret PGx and Somatic Variants: The Tools Behind the Reports
Genomic reports may look simple on the surface: summaries of key variants, gene-drug interactions, or tumor profiles. But under the hood, they rely on a complex network of tools that transform raw sequence data into clinical insight. For labs interpreting pharmacogenomic (PGx) and somatic variants it’s about selecting tools that deliver speed, consistency, and traceability at scale.
So what does that toolchain look like when it’s built to support real-world clinical use?
PGx Interpretation: Beyond Static Tables
Interpreting pharmacogenomic results means more than pulling allele frequencies or referencing guidelines. Clinical teams need tools that:
- Recognize star allele patterns across key genes (e.g., CYP2C19, TPMT)
- Map genotypes to phenotypes (e.g., poor vs. intermediate metabolizer)
- Align with CPIC and PharmGKB recommendations
- Present data in a format that’s actionable for prescribers
PraediGene leverages PharmWatch, a PGx-specific interpretation engine that automates this process with built-in rule sets and version control. The result:
- Structured gene-drug reports
- Up-to-date annotation logic
- Outputs tailored for downstream clinical decision support (CDS)
Somatic Variant Annotation: From Discovery to Meaning
When labs interpret somatic variants (especially in oncology) they face a different challenge:
- Many variants are novel or rare
- Tumor heterogeneity affects confidence scores
- Therapeutic implications shift rapidly with the literature
That’s where SylVIA comes in. As a high-performance somatic annotation engine, it provides:
- Functional impact prediction across coding and non-coding regions
- Linkage to relevant pathways, biomarkers, and clinical trials
- Scoring logic that helps labs prioritize variants by tier or indication
By integrating SylVIA directly into the reporting pipeline, PraediGene reduces the need for manual lookup or external annotation cycles. This helps teams deliver faster, more consistent reports with less risk of interpretive drift.
Why Integration Matters
Even the best annotation engines lose value when they sit outside the workflow. That’s why PraediGene embeds the tools you need. Interpretation happens inside the platform, alongside:
- Variant calling and filtering
- Templated reporting
- Audit trail creation
- EHR/LIS output formatting
The result is an end-to-end reporting engine that combines clinical accuracy with operational efficiency.
ARE YOU READY SEE PHARMWATCH AND SYLVIA IN ACTION?
Interpreting PGx and somatic variants at scale requires access to good data and tools designed for clinical-grade delivery. PharmWatch and SylVIA help PraediGene deliver consistent, reviewable, and actionable results across indications. Because the insight is only as good as the system that delivers it.