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Case Report

Variant Interpretation in Current Pharmacogenetic Testing

Department of Pharmacy, Stanford Health Care, Stanford, CA 94305, USA
Department of Biomedical Data Science, Stanford University, Stanford, CA 94305, USA
Department of Pharmacy and Therapeutics, Center for Clinical Pharmaceutical Sciences, University of Pittsburgh School of Pharmacy, Pittsburgh, PA 15261, USA
Department of Pharmacotherapy & Translational Research, University of Florida College of Pharmacy, Gainesville, FL 32610, USA
Department of Family Medicine, University of Chicago Pritzker School of Medicine, Chicago, IL 60637, USA
Mark R. Neaman Center for Personalized Medicine, NorthShore University Health System, Evanston, IL 60201, USA
Department of Medicine and The Center for Applied Genomics and Precision Medicine, Duke University, Durham, NC 27708, USA
Division of Primary Care and Population Health, School of Medicine, Stanford University, Stanford, CA 94305, USA
Author to whom correspondence should be addressed.
J. Pers. Med. 2020, 10(4), 204;
Received: 28 September 2020 / Revised: 26 October 2020 / Accepted: 29 October 2020 / Published: 31 October 2020
In the current marketplace, there are now more than a dozen commercial companies providing pharmacogenetic tests. Each company varies in the panel of genes they test and the variants they are able to screen for. The reports generated by these companies provide phenotypic interpretations of pharmacogenes and clinically actionable gene–drug interactions based on internally curated data and proprietary algorithms. The freedom to choose the types of evidence to include versus exclude in interpreting genomics has created reporting discrepancies in the industry. The case report presented here reveals the discordant phenotype analysis provided by two pharmacogenetic testing companies. The uncertainty and unnecessary distress experienced by the patient highlights the need for consensus in phenotype reporting within the industry. View Full-Text
Keywords: pharmacogenetics; pharmacogenomics; CPIC; precision medicine; nomenclature; standardization pharmacogenetics; pharmacogenomics; CPIC; precision medicine; nomenclature; standardization
MDPI and ACS Style

Luvsantseren, S.; Whirl-Carrillo, M.; Sangkuhl, K.; Shin, N.; Wen, A.; Empey, P.; Alam, B.; David, S.; Dunnenberger, H.M.; Orlando, L.; Altman, R.; Palaniappan, L. Variant Interpretation in Current Pharmacogenetic Testing. J. Pers. Med. 2020, 10, 204.

AMA Style

Luvsantseren S, Whirl-Carrillo M, Sangkuhl K, Shin N, Wen A, Empey P, Alam B, David S, Dunnenberger HM, Orlando L, Altman R, Palaniappan L. Variant Interpretation in Current Pharmacogenetic Testing. Journal of Personalized Medicine. 2020; 10(4):204.

Chicago/Turabian Style

Luvsantseren, Sally, Michelle Whirl-Carrillo, Katrin Sangkuhl, Nancy Shin, Alice Wen, Philip Empey, Benish Alam, Sean David, Henry M. Dunnenberger, Lori Orlando, Russ Altman, and Latha Palaniappan. 2020. "Variant Interpretation in Current Pharmacogenetic Testing" Journal of Personalized Medicine 10, no. 4: 204.

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