From a validated assay, PGx analysis can identify the tested variants and copy-number states that were observed, determine whether that evidence supports a genotype, and assign a predicted phenotype using versioned definitions.
Available to approved users by invitation.
PGx Compass
From genotype togoverned medication guidance.
Connecting pharmacogenomic results to phenotypes and medication implications through traceable evidence and expert review.
Explore the evidence pathway ↓Test the complete workflow →Request a tailored pilot →
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Non-PHI educational resource · No individualized treatment advice
Pharmacogenomics, explained
What pharmacogenomics is—and what it can determine.
Pharmacogenomics (PGx) studies how inherited genetic differences may influence how a person processes and responds to certain medications, including their effectiveness and risk of adverse effects.
When a current drug-specific guideline applies, the predicted phenotype can support a medication or dosing consideration. It cannot guarantee response or toxicity, diagnose disease, or replace the complete clinical context.
The interpretation pathway
PGx is more than a genotype.
A clinically useful result depends on what the assay measured, which allele definitions were applied, whether the evidence supports a reproducible genotype, how current sources assign function and phenotype, and whether a guideline actually addresses the selected medication and context.
SNP / CNV evidence
Start with the assay calls actually observed, including copy number, missing coverage, and discordant evidence.
Genotype
Match versioned allele definitions while preserving ambiguity when the evidence cannot support one reproducible call.
Phenotype
Translate the governed diplotype into the current functional or metabolizer category for that pharmacogene.
Drug implication
Apply a medication- and indication-specific guideline only when every required gene and clinical input is available.
Expert-reviewed report
Release the exact versioned report only after limitations, evidence sources, and the clinical context are reviewed.
What PGx can contribute
A clearer view of genetically influenced drug response.
- Predicted enzyme or transporter function
- Potential differences in drug exposure or active-metabolite formation
- Selected efficacy or adverse-effect implications
- Guideline-informed treatment considerations when a rule applies
- A durable result that can be reinterpreted as evidence changes
What PGx cannot replace
The patient, medication, and clinical context.
- Diagnosis, indication, treatment goals, and prior response
- Age, organ function, adherence, diet, and environmental factors
- Drug interactions, phenoconversion, contraindications, and monitoring
- Variants, genes, or structural changes outside the assay’s scope
- Professional judgment and current product labeling
Priority clinical topics
Important gene–drug questions require different frameworks.
These examples show why a report should apply medication-specific evidence instead of treating every pharmacogene result the same way.
Antidepressants
CYP2D6 · CYP2C19Some serotonin-reuptake inhibitors and tricyclic antidepressants use one- or two-gene guidance. The applicable rule depends on the medication, indication, phenotype, and interacting drugs.
Open controlling source ↗Fluoropyrimidines
DPYDReduced DPD activity can increase fluoropyrimidine toxicity risk. Variant coverage, activity score, phase uncertainty, and the current guideline all matter.
Open controlling source ↗Thiopurines
TPMT · NUDT15Both genes can influence thiopurine tolerance. Their phenotypes are considered together, with drug- and indication-specific starting-dose frameworks and continued monitoring.
Open controlling source ↗CYP2D6 copy number
CYP2D6Deletions, duplications, hybrids, and unresolved allele copy assignment make CYP2D6 more complex than a two-SNP lookup. Copy-number evidence must remain traceable.
Open controlling source ↗Warfarin
CYP2C9 · VKORC1 · CYP4F2 · rs12777823A useful interpretation combines genetic results with ancestry framework, age, body size, interacting medications, indication, and the clinical dosing protocol.
Open controlling source ↗Statins
SLCO1B1 · ABCG2 · CYP2C9Gene relevance is statin-specific. A governed report applies only the genes and phenotype combinations supported for the selected medication.
Open controlling source ↗Evidence governance
Each source has a defined job.
Analytical scope, allele nomenclature, phenotype assignment, medication guidance, and regulatory labeling are related—but they are not interchangeable. A governed interpretation records which source controlled each layer.
Education contentLast reviewed July 28, 2026
01
AMP / CAPAssay scope
Consensus allele-selection recommendations help define which variants belong in a clinical genotyping panel. Tier placement describes analytical content—not a prescribing action.
↗02PharmVarAllele nomenclature
Curated pharmacogene haplotype definitions provide a common language for star alleles and structural variation.
↗03ClinPGxDefinitions and curation
Gene-specific reference materials connect allele definitions, function assignments, diplotype-to-phenotype tables, and curated gene–drug evidence.
↗04CPIC / DPWGMedication guidance
Peer-reviewed guidelines describe how an available PGx result can inform treatment for a defined drug and clinical context.
↗05FDALabeling and associations
Drug labeling and the FDA pharmacogenetic association tables add regulatory context, but an association alone does not automatically require testing or a treatment change.
↗Synthetic example
See the report structure without patient data.
These governed CYP2D6 and DPYD examples are entirely fictional. They demonstrate traceable source evidence, genotype and phenotype derivation, medication-specific guidance, limitations, controlled references, and Director Review without representing a real specimen or clinical result.
View a synthetic sample report
TEST ONLY · NON-PHI
Governed interpretation report
DEMO-CYP2D6-001
- Genotype
- CYP2D6 *5/*10
- Phenotype
- Intermediate metabolizer
- Medication
- Codeine
- Guidance
- Clinician review required
Service pathway
Choose the level of support the work requires.
The software can standardize routine work while preserving a clear boundary between automated translation and professional review.
Automated analysis
Versioned SNP/CNV normalization, genotype translation, phenotype mapping, ambiguity flags, and structured outputs.
Analysis + expert review
Governed interpretation reports reviewed for evidence, rule versions, assay limitations, and the requested medication context.
Organizational support
Implementation planning, validation strategy, workflow design, result governance, education, and ongoing consultation.
Frequently asked questions
Useful boundaries make PGx more credible.
Clear limitations are part of the interpretation—not an afterthought.
Does a PGx result identify the single best medication?+
No. Pharmacogenomics can clarify one source of variability in exposure, efficacy, or adverse-effect risk. Diagnosis, indication, treatment history, age, organ function, interactions, adherence, preferences, and monitoring remain essential.
What does a reference or *1 result mean?+
It generally means that no defining variant interrogated by the assay was detected for that allele assignment. It does not exclude every rare, untested, or newly described variant.
Why might a genotype remain ambiguous?+
Missing assay calls, unphased variants, incomplete copy-number evidence, discordant repeat results, or a pattern absent from the translator can prevent one defensible call. A governed workflow displays that uncertainty rather than hiding it.
Can the same genetic result be interpreted differently later?+
The germline result is usually stable, but allele definitions, function assignments, phenotype tables, guidelines, product labeling, and the medication context can change. Versioned reinterpretation is therefore important.
Why is expert review still necessary?+
A matched guideline cell is not a complete prescription. Expert review checks assay limitations, required genes, rule versions, medication and indication, interactions, monitoring, and whether the report language accurately reflects the source evidence.
Should someone change a medication from this education page?+
No. This material is general education and not individualized medical advice. Medication decisions should be made with the treating clinician using the complete clinical context and current prescribing information.
PGx Compass
Move from technical output to reviewable clinical meaning.
Explore the educational resources, test the synthetic workflow, or describe the laboratory process that a tailored pilot should evaluate.