Chapter 4 Pharmacogenetics

🧬 Pharmacogenetics

  • Study of how a person’s genes affect their drug response.
  • Goals:
    • Personalize drug therapy.
    • Reduce side effects & adverse reactions.
    • Improve adherence.
    • Lower healthcare costs.

👩‍⚕️ Who Benefits Most

  • Patients taking multiple drugs.
  • Patients not responding to current therapy.
  • Patients with adverse drug reactions.
  • Patients on black box warning drugs.
  • ⚠️ Note: Not all drugs have genetic testing, and one test does not predict response to all medications.

💊 Examples of Drugs with Genetic Variation in Metabolism

  • Mercaptopurine
  • Irinotecan
  • Abacavir
  • Warfarin
  • Clopidogrel
  • Opioids
  • Mental health drugs
  • Carbamazepine

⚖️ Legal & Ethical Issues

  • Privacy: Who owns/has access to genetic info?
  • Autonomy: Patients can accept/refuse testing & change their mind.
  • Justice: Equal, fair treatment for all patients.

🧠 Clinical Judgment in Pharmacogenetics

  • Concept: Safety
  • Recognize cues:
    • Assess family history (3 generations).
    • Look for drug side effects/adverse effects.
  • Analyze cues: Patient may feel anxious, need teaching/support.
  • Generate solutions: Include patient + family preferences in care plan.
  • Take action:
    • Refer to genetic counseling if needed.
    • Teach patient how to use and share results.
  • Evaluate outcomes: Check if patient understands, is safe, and therapy is effective.