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Updated: May 21, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Optimizing drug outcomes through pharmacogenetics: a case for preemptive genotyping.
J S Schildcrout1, J C Denny, E Bowton
1Department of Biostatistics, Vanderbilt University School of Medicine, Nashville, TN, USA.
Integrating genetic data into prescribing can enhance patient safety. Preemptive genotyping for 56 medications could prevent numerous adverse events, improving drug decision-making.
Area of Science:
- Pharmacogenomics
- Clinical Pharmacology
- Genetics
Background:
- Integrating patient genotype data into drug prescribing decisions can enhance safety.
- The frequency of pharmacogenetic prescribing opportunities and potential adverse events (AEs) mitigated are not well understood.
Purpose of the Study:
- To examine the frequency of prescribing medications with known pharmacogenetic associations.
- To estimate the potential number of adverse events (AEs) that could be prevented by preemptive genotyping.
Main Methods:
- Retrospective cohort study of 52,942 patients at Vanderbilt University Medical Center (VUMC).
- Examined the prescription frequency of 56 medications influenced by variant alleles over a 5-year period.
- Estimated preventable AEs using published data for six severe, genetically linked AEs.
Main Results:
- Approximately 64.8% of individuals were prescribed at least one medication with a pharmacogenetic association.
- An estimated 383 severe adverse events could have been prevented with preemptive genotyping.
- Identified frequent opportunities for pharmacogenetic prescribing and AE mitigation.
Conclusions:
- Multiplexed, preemptive genotyping is an efficient alternative to current reactive methods.
- Preemptive genotyping has the potential to significantly improve patient safety in drug prescribing.
- Routine integration of genotype data can optimize pharmacogenetic prescribing.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Metabolism: Overview
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
