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Updated: Jan 10, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Multi-Gene Pharmacogenomic Testing in a Community-Based Setting Is Feasible and Reduces Total Healthcare Costs
Nihal El Rouby1,2, Josiah D Allen1, Tyler Koep3
1St Elizabeth Healthcare, Edgewood, Kentucky, USA.
Abstract:
Pharmacogenomic (PGx) testing using multi-gene panels (mgPGx) is documented to improve clinical outcomes; however, real-world data on its economic impact remain limited. This study aimed to evaluate the utility and economic value of mgPGx testing among Medicare patients within a community-based health system. We identified Medicare Advantage patients within the primary care setting of a community-based health system hospital who were taking ≥ 1 PGx-guided medication using a stratification algorithm. In total, 1042 patients participated in mgPGx testing. We evaluated the prevalence of PGx medications, polypharmacy involving PGx medications, and actionable results (i.e., a phenotype with PGx guidance and a relevant PGx medication). A Total Cost of Care (TCOC) analysis was performed for a subset of patients (n = 548) who underwent PGx testing and were matched to a control group that did not undergo PGx testing using propensity score matching. Total medical expenses over 12 months, both before and after testing, were compared. Forty-four percent (n = 454/1042) of patients were ≥ 3 PGx-guided medications. Over one-third of patients who were on ≥ 3 PGx medications had ≥ 2 actionable results (35.5%, n = 161/454). The TCOC analysis demonstrated a trend toward a net cost savings of $1827 per member per year (PMPY), with $1582 in medical savings and $245 in pharmacy savings. Polypharmacy with PGx medications is prevalent, and mgPGx led to cost savings. Further research with a larger sample size is needed to replicate the results and assess the long-term impact on healthcare utilization and costs.
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