Planning and Conducting a Pharmacogenetics Association Study

Daniel L. Hertz, Meghan J. Arwood, Gabriele Stocco, Sonal Singh, Jason H. Karnes, Laura B. Ramsey

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Pharmacogenetics (PGx) association studies are used to discover, replicate, and validate the association between an inherited genotype and a treatment outcome. The objective of this tutorial is to provide trainees and novice PGx researchers with an overview of the major decisions that need to be made when designing and conducting a PGx association study. The first critical decision is to determine whether the objective of the study is discovery, replication, or validation. Next, the researcher must identify a patient cohort that has all of the data necessary to conduct the intended analysis. Then, the investigator must select and define the treatment outcome, or phenotype, that will be analyzed. Next, the investigator must determine what genotyping approach and genetic data will be included in the analysis. Finally, the association between the genotype and phenotype is tested using some statistical analysis methodology. This tutorial is divided into five sections; each section describes commonly used approaches and provides suggestions and resources for designing and conducting a PGx association study. Successful PGx association studies are necessary to discover and validate associations between inherited genetic variation and treatment outcomes, which enable clinical translation to improve efficacy and reduce toxicity of treatment.

Original languageEnglish (US)
Pages (from-to)688-701
Number of pages14
JournalClinical Pharmacology and Therapeutics
Issue number3
StatePublished - Sep 2021

ASJC Scopus subject areas

  • Pharmacology
  • Pharmacology (medical)


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