ABSTRACT
Background and Purpose There is an increasing number of
evidence-based indications for pharmacogenetic (PGx) tests and a growing
demand for PGx screening. We aimed to evaluate clinical relevance of a
16-gene panel test for PGx-guided pharmacotherapy.
Experimental Approach Observational cohort study of subjects
tested with a PGx panel for variants of ABCB1, COMT, CYP1A2, CYP2B6,
CYP3A4, CYP3A5, CYP2C9, CYP2C19, CYP2D6, CYP4F2, DPYD, OPRM1, POR,
SLCO1B1, TPMT and VKORC1. Specialized clinical pharmacology
consultations with PGx-guided pharmacotherapy management were supported
by the PGx expert system SONOGEN XP. Study outcomes were PGx-based
changes and recommendations regarding current and potential future
medication.
Key Results PGx-testing was triggered by specific drug-gene
pairs in 102 subjects, whereas screening was performed in 33. Based on
PHARMGKB expert guidelines the 16-gene panel identified at least one
“actionable” variant relevant for current or potential future
medication in all 135 (100%) tested patients. Drugs that triggered
PGx-testing were clopidogrel in 60, tamoxifen in 15,
polypsychopharmacotherapy in 9, opioids in 7, and other in 11 patients.
Among those, PGx variants resulted in clinical recommendations to change
PGx-triggering drugs in 33 (32.4 %), and other current pharmacotherapy
in 23 (22.5%).
Conclusion and Implications The 16-gene PGx panel detected
clinically relevant variants in a high proportion of tested patients,
and SONOGEN XP supported their interpretation based on latest evidence.
Additional costs of panel vs. single gene tests are moderate, and the
efficiency of PGx panel testing challenges traditional cost-benefit
calculations for single drug-gene pairs. However, PGx-guided
pharmacotherapy requires specialized consultations with
interdisciplinary collaborations.