Andrea Gaedigk

Research Statement

AI generated · 1d ago

Andrea Gaedigk's research centers on translating cytochrome P450 genotypes into clinically actionable phenotypes, particularly for CYP2D6 activity scoring that converts genotype information into qualitative phenotype measures, a framework cited nearly 800 times. Her senior-authored CPIC guideline for CYP2D6 and CYP2C19 dosing of selective serotonin reuptake inhibitors (998 citations) exemplifies this translational thrust, as does her later work on standardizing CYP2D6 genotype-to-phenotype translation through consensus recommendations from CPIC and the Dutch Pharmacogenetics Working Group. Earlier first-author work includes predicting CYP2D6 phenotype from genotype across world populations and identifying a whole-gene CYP2D6 deletion underlying poor drug metabolism. Beyond these lead-author contributions, Gaedigk participated as a middle author in consortium guidelines covering CYP2D6 and CYP2C19 dosing for tricyclic antidepressants and codeine therapy, and in the widely cited report on morphine poisoning in a breastfed neonate of a codeine-prescribed mother. She also led the PharmVar Consortium effort to incorporate the human cytochrome P450 allele nomenclature database, alongside GeneFocus reviews of CYP2D6 and CYP2B6. No software, datasets, patents, or grants are indexed beyond her publications. Her arc moves from mechanistic gene-deletion discovery toward standardized, globally applicable pharmacogenomic guidance.

Most Cited Works

Prediction of CYP2D6 phenotype from genotype across world populations

Andrea Gaedigk, Katrin Sangkuhl, Michelle Whirl-Carrillo, Teri Klein, J Steven Leeder

Genetics in Medicine2016

510Citations

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 , CYP2C19 , CYP2B6 , SLC6A4 , and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants

Chad A Bousman, James M Stevenson, Laura B Ramsey, Katrin Sangkuhl, J Kevin Hicks, Jeffrey R Strawn, Ajeet B Singh, Gualberto Ruaño, Daniel J Mueller, Evangelia Eirini Tsermpini

Research Areas

Pharmacogenetics and Drug MetabolismGenetic Associations and EpidemiologyDrug Transport and Resistance MechanismsGenomics and Rare DiseasesPharmaceutical studies and practices

Affiliations & Education

Employment

1996–present· now
Children’s Mercy Research Institute(US)
Director, Pharmacogenetics Core Laboratory · Division of Clinical Pharmacology, Toxicology & Therapeutic Innovation

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