Lab Updates

Lab Update 40.2 – Pharmacogenomic Testing: Recent Updates and Improvements

Lab Updates
Lab Update 40.2 – Pharmacogenomic Testing: Recent Updates and Improvements
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July 2024
Ampath | ampath.co.za

Introduction

Pre-emptive pharmacogenomic (PGx) testing is increasingly recognised for its ability to:

  • Reduce adverse drug reactions
  • Improve medication adherence
  • Optimise clinical outcomes

Ampath's PHARMA test screens for approximately 120 actionable variants across 36 pharmacogenes known to affect the metabolism of commonly prescribed medications.

What’s New in the PHARMA Report

Ampath’s updated pharmacogenomic reporting includes:

  • A comprehensive PDF report featuring each patient’s drug metaboliser phenotypes and clinical interpretations
  • Enhanced evidence-based filtering, ensuring that only clinically actionable findings are reported (disease risk alleles have been removed)
  • Subscription-free clinician access to the GenXys™ Precision Prescribing tools:
    • ReviewGx™
    • TreatGx™
  • Pharmacogenomic counselling services now available for patients and clinicians

GenXys™ Precision Prescribing Tools: Key Benefits

  • Generates clinical PGx reports by integrating the patient’s genotype with their medical profile:
    • Current medications
    • Allergies
    • Liver/renal function
    • Comorbid conditions
  • Provides real-time recommendations on:
    • First-line or alternate drug choices
    • Dose adjustments
  • Highlights any drug-drug or drug-gene interactions for each patient
  • Identifies patients who would benefit from PGx testing based on their current medications or medical history

Additional Information on the PHARMA Panel

Purpose of the Test

  • To assist with drug selection
  • To personalise dosage
  • To prevent adverse drug reactions

Genes Targeted

(List available in full on request)
Includes:

  • CYP family genes (e.g., CYP2C9, CYP2D6, CYP3A4)
  • Drug transporters and receptors (e.g., ABCB1, SLCO1B1, DRD2, OPRM1)
  • Enzymes and coagulation-related genes (e.g., VKORC1, F5, F2)
  • Many more

Sample Requirements

  • Buccal swab
  • OR EDTA peripheral blood sample

Test Mnemonic

  • PHARMA

Cost (2024)

  • R2,800.00

Turnaround Time

  • 10 working days from receipt at the NRL Genetics Laboratory

Pharmacogenomic Counselling

📧 For test enquiries or clinical guidance, contact:
pgx@ampath.co.za

📘 For more in-depth information, see AmpathChat No. 84 on the Ampath website.