Choosing pharmacogenomics reporting software

What pharmacogenomics reporting software does

Pharmacogenomics (PGx) reporting software takes genotyping results, translates them into star alleles and metabolizer phenotypes, matches those phenotypes to drug-gene guidance, and produces a report that tells prescribers which medications and doses fit the patient’s genetics.

The science is well established, but the reporting is where most labs struggle. Raw genotype calls mean little to a prescriber. The software has to apply allele definitions, phenotype rules, and guideline-based recommendations consistently, and then present them on a report a busy clinician can read in seconds.

From genotype to phenotype

• Allele assignment. Variant calls from your genotyping platform are converted to star alleles such as CYP2D6 *4.
• Diplotypes. The pair of alleles is reported for each gene, for example *1/*17.
• Phenotypes. Diplotypes map to phenotypes such as poor, intermediate, normal, rapid, or ultrarapid metabolizer, or decreased function for transporters.

Copy number variation matters for some genes, especially CYP2D6. Ask how the software handles gene duplications and deletions reported by your platform.

Guideline-based drug recommendations

Most PGx reports base their medication guidance on published guidelines, most commonly those from the Clinical Pharmacogenetics Implementation Consortium (CPIC), which translate phenotypes into prescribing recommendations such as avoid, use an alternative, adjust the dose, or use as directed.

Guidelines are updated over time, so ask how quickly a vendor applies new recommendations and whether your lab can review or tailor guidance to its own clinical protocols and formulary.

Configurable panels and allele definitions

Panels vary by lab and by specialty, from cardiology and psychiatry to pain management and oncology. Your software should let your team add genes, manage allele definitions, and adjust rules without waiting for the vendor, while keeping a record of every change for validation.

Reports prescribers actually use

• A one-page summary of actionable findings first, with the detail behind it.
• Medications grouped by recommendation, so high-risk interactions stand out.
• Genotypes, diplotypes, and phenotypes shown clearly for each gene.
• Your lab’s branding and layout, exported as PDF and delivered electronically.

Integration and delivery

Genotyping data usually arrives as files exported from the platform’s analysis software. Reports should reach prescribers through HL7 into the EHR or a secure prescriber portal, and the system should keep a complete audit trail for sensitive genetic data. See HL7 vs. ASTM for how interfaces work.

PGx reporting software checklist

1. Which genotyping platforms and file formats can it ingest?
2. How are star alleles, diplotypes, and phenotypes assigned?
3. How is CYP2D6 copy number handled?
4. Which guidelines drive the recommendations, and how fast are updates applied?
5. Can our team configure genes, alleles, and guidance without the vendor?
6. Can we brand and lay out the report ourselves?
7. How are reports delivered to EHRs and prescribers?
8. How is genetic data secured and audited?

Where Lab Dynamo fits

SparkPGx is Lab Dynamo’s pharmacogenomics reporting platform. It ingests genetic test data, handles allele assignment and phenotype interpretation, links drug-gene interactions to CPIC guideline recommendations, and produces branded, provider-friendly reports. Labs configure gene panels, allele definitions, clinical guidance, and report styling themselves, and results can be delivered into EHRs through HL7 interfaces.