Pharmacogenomics (PGx) Platform

Pharmacogenomics Platform Development — PGx CDS, Star Allele Calling & EHR Integration at the Point of Prescribing

CPIC-compliant star allele determination, CPIC/PharmGKB drug-gene interaction CDS alerts, and pharmacogenomics CDS EHR integration with Epic and Cerner - delivering actionable PGx guidance to clinicians inside their existing prescribing workflow.

Prescribing Workflow — CDS Alert⚠ CDS Alert: CYP2D6 Poor MetaboliserCodeine — Avoid: risk of toxicity. Consider alternative.CPIC Level A • PharmGKB 1AGeneCYP2D6 *4/*4Poor MetaboliserPlatformEpic BPAFHIR R4 + CDS HooksCPICPharmGKBHIPAA ✓

What the Pharmacogenomics Platform Delivers

Six capabilities that take pharmacogenomics from a genetic test result to an actionable prescribing decision — integrated directly into clinical workflows via HL7 FHIR bioinformatics integration.

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PGx Variant Calling & Star Allele Determination

CPIC-compliant star allele calling for CYP2D6, CYP2C19, CYP2C9, SLCO1B1, DPYD, TPMT, and 50+ additional pharmacogenes — from targeted PGx panel sequencing, WGS, or SNP genotyping array data — with diplotype and phenotype assignment.

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Drug-Gene Interaction Knowledge Base

Integrated CPIC and PharmGKB knowledgebase with curated drug-gene interaction annotations, prescribing recommendations by metaboliser phenotype, and supporting evidence levels — updated on CPIC guideline publication cycles.

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CDS Alerts & Prescribing Recommendation Engine

Real-time CDS alert generation at medication order entry — surfacing PGx-guided prescribing recommendations, dose adjustment guidance, and alternative drug suggestions for at-risk phenotypes. Alert logic configurable by phenotype tier, drug class, and clinical context.

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Pharmacogenomics EHR Integration

Pharmacogenomics CDS EHR integration with Epic (BPA, CDS Hooks, FHIR R4 Observation storage) and Cerner (CDS Hooks via Ignite API, PowerPlan integration) — PGx results stored as FHIR Observations and alerts surfaced inside the prescribing workflow without a portal login.

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Patient Medication History Correlation

Correlates PGx variant profile against current and historical medication records — flagging past adverse drug reactions potentially attributable to pharmacogenomic variant status and surfacing those flags in the clinical record for prescribing review.

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LIMS & Clinical Genomics Platform Integration

Integrates with LIMS for sample tracking and test order management, connects to the clinical genomics platform for unified result management, and delivers PGx reports via HL7 v2 ORU and FHIR R4 DiagnosticReport to provider portals and patient-facing systems.

CPIC-Aligned, FHIR-Native, Clinically Deployable

Built on HIPAA-compliant genomics platform architecture — FHIR R4-native PGx result storage, HL7 v2 messaging for legacy system connectivity, and CDS Hooks for real-time alert delivery. Deployable as a standalone PGx platform or as an integrated module within the NonStop Clinical Genomics Platform.

🔗 Integration Standards
  • FHIR R4 Observation — PGx variant storage
  • CDS Hooks — real-time prescribing alerts
  • HL7 v2 ORU — result delivery to LIS / EHR
  • Epic BPA + App Orchard integration
  • Cerner Ignite API + PowerPlan
📚 Knowledge & Compliance
  • CPIC guideline-aligned star allele calling
  • PharmGKB drug-gene interaction integration
  • HIPAA-compliant PGx data architecture
  • Audit trail per PGx result and CDS event
  • CAP/CLIA-compliant reporting output
Deployment Options
✅ Standalone PGx Platform🧬 Clinical Genomics Module📄 FHIR R4 Native🔒 HIPAA Compliant🏥 Epic & Cerner Ready✔ CAP/CLIA Output

Frequently Asked Questions

How does pharmacogenomics CDS EHR integration work in practice with Epic?

PGx CDS integration with Epic works through a combination of FHIR R4 resource storage and CDS Hooks for real-time alert delivery. When a patient has a completed PGx test, their genetic variant data and derived metaboliser phenotypes are stored as FHIR R4 Observation resources in the FHIR server — accessible to Epic via the Interconnect FHIR API. When a clinician opens a medication order for that patient in Epic, a CDS Hooks service call fires in real time — the CDS Hook receives the patient's medication order context, queries the FHIR Observation store for the patient's PGx phenotypes, checks the CPIC and PharmGKB drug-gene interaction knowledgebase, and returns an alert card if the ordered medication has a CPIC prescribing recommendation for that patient's phenotype. The alert card surfaces inside the medication ordering workflow — displaying the relevant phenotype, the CPIC recommendation, and the clinical action — without requiring the clinician to leave Epic or log into a separate pharmacogenomics portal.

Which pharmacogenes and drugs does the platform cover?

The platform covers the 25 CPIC Level A gene-drug pairs as the clinical baseline — including CYP2D6 (codeine, tramadol, tamoxifen, antidepressants), CYP2C19 (clopidogrel, PPIs, antidepressants), CYP2C9 (warfarin, NSAIDs), DPYD (fluoropyrimidines), SLCO1B1 (simvastatin), TPMT and NUDT15 (thiopurines), and HLA-B (abacavir, carbamazepine, allopurinol). The knowledge base also includes PharmGKB Level 1A and 1B annotated drug-gene pairs — extending coverage to 150+ drug-gene interactions with annotated evidence levels. The platform is configurable — gene-drug pairs can be enabled or disabled per clinical context, and CDS alert thresholds are adjustable by phenotype tier, alert fatigue management policy, and clinical indication. Custom gene additions for research or rare disease pharmacogenomics programmes are supported through the platform's knowledge base management interface.

CYP2D6CYP2C19CYP2C9DPYDSLCO1B1TPMTNUDT15HLA-B150+ Drug-Gene PairsPharmGKB 1A & 1B

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