Navigating Pharmacogenomic Testing in Practice: Who to Test and When to Test

Area of Science:

• Pharmacogenomics
• Clinical Pharmacology
• Personalized Medicine

Background:

• Increasing interest in pharmacogenetic (PGx) testing for individualized medication management.
• Limited routine PGx testing recommendations in clinical practice guidelines, hindering adoption.
• Inconsistencies in guidelines, FDA labeling, and reimbursement policies impede widespread use.

Purpose of the Study:

• To discuss critical considerations for determining who should receive PGx testing and when.
• To explore factors beyond clinical validity, including actionable result frequency and alternative treatments.
• To present perspectives on identifying PGx testing candidates in real-world clinical settings.

Main Methods:

• Review of existing resources and clinical practice guidelines related to PGx testing.
• Discussion of various considerations for PGx testing candidate selection.
• Analysis of different PGx testing models: preemptive, pretreatment, and reactive testing.

Main Results:

• Multiple factors influence PGx testing decisions, including clinical validity, actionable result frequency, adverse outcome severity, predictive power, alternative treatments, cost, and turnaround time.
• Existing resources often lack guidance on patient selection for PGx testing.
• Different testing models (preemptive, pretreatment, reactive) have distinct advantages and disadvantages.

Conclusions:

• Addressing the question of 'who' and 'when' for PGx testing is crucial for clinical adoption.
• A comprehensive approach considering multiple factors beyond drug-gene interactions is necessary.
• Real-world candidate identification for PGx testing requires careful consideration of practical and clinical factors.