Authors:
Lauren D. Jackson, PharmD, MPH
Jacob L. Marler, PharmD, BCCCP

Reviewers:
Jennifer Hockings, PharmD, PhD, BCPS
James C Lee, PharmD, BCACP

Introduction

Pharmacogenomics (PGx) is a rapidly evolving field of precision medicine that studies how genetic variability influences drug response. PGx testing can improve patient care through personalized medication adjustments for a variety of conditions, including pain, mental health, cardiology, and oncology. The American Society of Health-System Pharmacists (ASHP) promotes PGx testing to improve medication-related outcomes across all healthcare settings to decrease the risk of side effects, lower the cost of treatment, increase medication adherence, improve the appropriate selection of effective therapeutic agents, decrease the length of treatment, and enhance patient safety.1

In the recently published PREPARE trial, the clinical utility of pre-emptively testing for genetic variants was explored. The study enrolled 7,000 patients who were randomized to undergo testing with a 12-gene PGx panel or to receive standard care. The study found the rate of clinically important adverse drug reactions was significantly reduced in the PGx group, supporting the use of pre-emptive genetic testing to guide clinical practice.2 Additionally, of the patients who underwent PGx testing, at least 1 actionable PGx variant was identified in 94% of patients.2

Despite advancements in technology, barriers exist to the adoption of PGx in clinical practice, including the lack of sufficient awareness about genomics among many health professionals.3 The current standard of care for medication selection relies on evidence-based clinical guidelines for the condition in combination with an assessment of the patient’s comorbidities, age, organ function, drug-drug interactions, and preferences. PGx is another piece of the puzzle and challenges the “one size fits all approach” to medication selection. Personalized medicine plays an important role in avoiding harm and adverse drug reactions while fine-tuning drug selection.

Here are the top ten things every clinician should know about PGx:

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