Clinical Application: Pharmacogenomics

Pharmacogenomics for Precision Prescribing

Transform medication safety and efficacy by tailoring drug selection and dosing to each patient's genetic profile. Reduce adverse drug reactions, optimize therapeutic outcomes, and deliver actionable PGx reports to clinicians.

CPIC Guideline Integration
Star Allele & Diplotype Calling
Actionable Clinical Reports
~25%

of all medications metabolized by CYP2D6 alone

90+

Distinct alleles identified for CYP2D6

12.6%

of patients with abnormal CYP2D6 copy numbers

Precision Dosing

Why Pharmacogenomics Matters

Until recently, drug dosages have been determined by averaging responses across populations—an approach that is suboptimal and sometimes dangerous. A dosage that is effective for one patient may be ineffective for another, or even toxic. Pharmacogenomics changes this by using genetic information to guide prescribing decisions.

Reduce Adverse Drug Reactions

Genetic variability in drug-metabolizing enzymes is a leading cause of adverse reactions. Identifying poor and ultra-rapid metabolizers before prescribing prevents dangerous outcomes.

Optimize Therapeutic Outcomes

Matching drug selection and dosage to a patient's metabolizer phenotype ensures maximum efficacy while minimizing side effects and treatment failures.

Guideline-Backed Decisions

CPIC and FDA pharmacogenomic guidelines provide evidence-based recommendations linking specific genotypes to drug therapy adjustments across hundreds of medications.

Clinical Impact: Gene-Drug Interactions

Pharmacogenomic testing directly informs prescribing for some of the most commonly used medications in medicine. Understanding key gene-drug interactions prevents life-threatening events and improves patient outcomes across specialties.

Pain Management

Codeine & CYP2D6

Poor metabolizers get no therapeutic benefit; ultra-rapid metabolizers risk respiratory depression from excess morphine conversion.

Cardiovascular

Clopidogrel & CYP2C19

Reduced CYP2C19 activity compromises antiplatelet activation, increasing risk of stroke and heart attack in affected patients.

Cholesterol Management

Statins & SLCO1B1

SLCO1B1 variants reduce hepatic transporter function, leading to elevated statin levels and increased risk of myopathy.

Anticoagulation

Warfarin & VKORC1

VKORC1 and CYP2C9 variants determine warfarin sensitivity; standard doses can cause life-threatening bleeding in susceptible patients.

Metabolizer Phenotype Classification
Activity Score → Clinical Phenotype
Ultra-rapid Metabolizer (UM)High Risk
Activity Score > 2.25 — Increased drug conversion, toxicity risk
Normal Metabolizer (NM)Standard
Activity Score 1.25–2.25 — Expected drug response
Intermediate Metabolizer (IM)Caution
Activity Score 0.25–1.0 — Reduced metabolism, dose adjustment needed
Poor Metabolizer (PM)
Activity Score 0 — Little or no enzyme activity, consider alternative drug

Pharmacogenomics Insights & Webcasts

Explore our featured articles and expert-led webcasts on clinical pharmacogenomics and precision prescribing.

Featured Articles

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On-Demand Webcasts

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Launch Your Pharmacogenomics Program

Join leading clinical laboratories using Golden Helix to deliver actionable pharmacogenomic insights and CPIC-guided prescribing recommendations.

CPIC Guideline Integration
Star Allele & CNV Support
Clinician-Ready Reporting