Prevalence of Incidental Findings in Pharmacogenomic Panel Testing

ACMG Poster (2026)

PMID

Publication AuthorsYue Wang, PhD, Yue Zhou, PhD, Robert Rigobello, MS, CGC, Jason Chibuk, MS, CGC, Lauren Marcath, PharmD

Introduction

  • Pharmacogenomic (PGx) testing can guide medication management across many disease states
    • PGx variation can impact medication efficacy and/or tolerability
    • PGx panels can include genes such as: CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, G6PD, NUDT15, RYR1, SLCO1B1, TPMT, UGT1A1, VKORC1
  • Genes commonly included on PGx panels can have overlap with medication management implications and disease risk
    • PGx genes can have overlapping disease risk or a disease state risk associated with medication use (Table 1) that may require additional education or testing
  • To determine the proportion of patients that may warrant additional education regarding the overlapping disease risk and drug-gene interaction, an analysis was conducted to determine the prevalence of these disease risk variants after PGx panel testing
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