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Updated: Sep 7, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Experience with comprehensive pharmacogenomic multi-gene panel in clinical practice: a retrospective single-center
Vid Matišić1, Petar Brlek, Vilim Molnar
1Vid Matišić, St. Catherine Specialty Hospital, Branimirova 71E, 10000 Zagreb, Croatia, vid.matisic@svkatarina.hr.
Pharmacogenetic testing revealed actionable drug-gene pairs in 73.7% of patients. This highlights the potential for personalized medicine by matching drug therapies to individual genetic profiles.
Area of Science:
- Pharmacogenomics
- Clinical Pharmacology
Background:
- Pharmacogenetic testing is increasingly used to guide drug selection and dosing.
- Understanding the prevalence of actionable pharmacogenetic findings is crucial for clinical implementation.
Purpose of the Study:
- To determine the frequency of actionable pharmacogenetic interventions identified through multi-gene panel testing.
- To assess the availability of prescribing guidelines based on genetic information.
Main Methods:
- Retrospective review of electronic health records from 319 patients.
- Pharmacogenomic testing using the RightMed panel, employing TaqMan quantitative real-time PCR and copy number variation analysis for 27 genes.
Main Results:
- Actionable drug-gene pairs were identified in 235 (73.7%) patients.
- Prescribing guidelines were available for 133 (56.7%) patients at the time of testing.
- 139 (43.6%) patients were on medications with significant pharmacogenetic interactions based on their genotype.
Conclusions:
- A significant majority of patients (two out of three) possess genetic variations impacting drug response.
- Further research is needed to evaluate the clinical utility of integrating pharmacogenomic data into electronic health records for improved patient care.
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