Andrea Gaedigk, PhD, MS

Director, Pharmacogenetics Core Laboratory, Clinical Pharmacology & Medical Toxicology; Professor of Pediatrics, University of Missouri-Kansas City School of Medicine; Adjunct Associate Professor of Clinical Lab Sciences, University of Kansas School of Medicine

Full Biography

The Pharmacogene Variation Consortium (PharmVar), is featured on the cover of the October 2024 issue of Clinical Pharmacology & Therapeutics, a leading journal in clinical pharmacology. Children’s Mercy Research Institute (CMRI) houses and financially supports PharmVar, a database for pharmacogenes —genes that encode proteins involved with drug metabolism, drug transport and ultimately drug response. Andrea Gaedigk, PhD, Director of the Pharmacogenetics Core Laboratory, is the director of PharmVar.

What is PharmVar?

The PharmVar database serves as a centralized global repository for data about genetic variation in pharmacogenes. PharmVar uses star allele nomenclature, a widely-adopted system to systematically classify the many variants found in these genes. Standardized nomenclature is crucial to the development of clinical guidelines for individualized drug therapies based on genetic variants and to reporting results from pharmacogenetic tests like Kiddose PGx, an in-house test now offered to Children’s Mercy patients.

“By knowing what genetic variants there are and being able to test for those, we can then predict what someone’s phenotype status is,” said Dr. Gaedigk.  “This is important information to personalize treatment. Based on pharmacogenetic testing, a patient may need a lower dose, a higher dose, or even a different drug that is metabolized through a different pathway. Essentially, knowing a patient’s pharmacogenetic profile benefits our patients.”

PharmVar’s interactive database launched in 2017 and grew out of a static database originally hosted by the Karolinska Institute in Stockholm, Sweden. Dr. Gaedigk received funding from the National Institutes of Health from 2017-2021 to develop the data repository.

PharmVar collaborates with other pharmacogenetic resources, including the Pharmacogenomic KnowledgeBase (PharmGKB), the Association of Molecular Pathology (AMP) which publishes recommendations for clinical allele testing, and the CDC-based Genetic Testing Reference Material Coordination Program (GeT-RM). Dr. Gaedigk is also an active member of the Clinical Pharmacogenomics Implementation Consortium (CPIC) which develops clinical guidelines.

Scott Casey, Senior Software Engineer, is the dedicated web developer for PharmVar.

Who uses PharmVar?

On average, PharmVar has 20,000 page views per month. Researchers and organizations throughout the world use it, for example, to develop guidelines for clinical implementation of pharmacogenetic information. Many others including pharmacogenetic testing companies, and pharmaceutical companies also rely on information and the standardized nomenclature provided by PharmVar.

PharmVar accepts submissions from researchers throughout academia and industry, including those from CMRI researchers. “The research that goes on at CMRI in clinical pharmacology is a great resource to finding new genetic variants,” said Dr. Gaedigk. “We have been quite prolific over the years in generating data for PharmVar.”

The Journal Cover

The October 2024 issue of Clinical Pharmacology & Therapeutics features two PharmVar GeneFocus articles and two CPIC Guidelines co-authored by Dr. Gaedigk. GeneFocus articles provide summaries of genetic variations for specific genes. This issue also includes an editorial that highlights the GeneFocus articles and is co-authored by editor-in-chief Piet van der Graf, PharmD, PhD, Leiden University, and Kathy Giacomini, PhD, University of California San Francisco.

“By continuing and expanding the nomenclature system developed by Dr. Magnus Ingelman-Sundberg for important haplotypes in pharmacogenes that underlie interindividual variation in drug response, PharmVar has greatly advanced clinical pharmacogenomic implementation services,” said Dr. Giacomini.  “Its gene reviews published in our journal are a must-read for clinical pharmacologists who specialize in pharmacogenomics.”