Citations 2
Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG)
Gong, Li , Klein, Clarissa , Caudle, Kelly E. , Moyer, Ann M. , Klein, Teri E. , (PGxWG), ClinGen Pharmacogenomics Working Group, Ashcraft, Kristine , Bernhardt, Brooke, Blaxwell, Burns C, Bly, Zo, Cody, Neal, Tredici, Andria L. Del , Gregornik, David , Hart, Jennifer, Hoffman, James M. , Landrum, Melissa , Langlais, Kristofor K., Lee, M T M, Li, Rongling, McLeod, Howard L. , Monte, Andrew A. , Naik, Hetanshi , Obeng, Aniwaa Owusu , Ramos, Erin M. , Ren, Zhaoxia , Ritchie, Marylyn D. , Scherer, Steven E. , Shaaban, Sherin, Swen, Jesse J. , McIntyre, Joanne, Merritt, Keren, Wright, Matt W. , Klein, Teri E , Scott, Stuart A. , Whirl‐Carrillo, Michelle , (PGxWG), ClinGen Pharmacogenomics Working Group, Aminkeng, Folefac , Amr, Sami S , Cipriani, Amber , Dandara, Collet , Empey, Philip E. , Fieg, Elizabeth L. , Gaedigk, Andrea , Harrison, Steven M. , Hunter, Jessica Ezzell , Iwuchukwu, Otito Frances , Malheiro, Adriana , Morales, Joannella , Oni‐Orisan, Akinyemi , Rogers, Sara , Wagner, Alex H. , Woodahl, Erica L , McIntyre, Joanne, Merritt, Keren
Clinical Chemistry | January 3, 2025 | Volume: 71 | Issue: 1 | Pages: 36-44
Abstract Pharmacogenomics (PGx) is focused on the relationship between an individual's genetic makeup and their response to medications, with the overarching aim of guiding prescribing decisions to improve drug efficacy and reduce adverse events. The PGx and genomic medicine communities have worked independently for over 2 decades, developing separate standards and terminology, making implementation of PGx across all areas of genomic medicine difficult. To address this issue, the Clinical Genome Resource (ClinGen) Pharmacogenomics Working Group (PGxWG) was established by the National Institutes of Health (NIH)-funded ClinGen to initially create frameworks for evaluating gene–drug response clinical validity and actionability aligned with the ClinGen frameworks for evaluating monogenic gene–disease relationships, and a framework for classifying germline PGx variants similar to the American College of Medical Genetics (ACMG) and Association of Molecular Pathology (AMP) system for interpretation of disease-causing variants. These frameworks will leverage decades of work from well-established PGx resources facilitating buy-in among PGx stakeholders. In this report, we describe the background and major activities of the ClinGen PGxWG, and how this initiative will facilitate the critical inclusion of PGx into the larger context of genomic medicine.
Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2C9 and Nonsteroidal Anti‐Inflammatory Drugs
Theken, Katherine N. , Lee, Craig R. , Gong, Li , Caudle, Kelly E. , Formea, Christine M. , Klein, Teri E. , Agúndez, José A. G. , Großer, Tilo , Agúndez, José A G , Klein, Teri E , Gaedigk, Andrea
Clinical Pharmacology & Therapeutics | March 19, 2020 | Volume: 108 | Issue: 2 | Pages: 191-200
Nonsteroidal anti‐inflammatory drugs (NSAIDs) are among the most commonly used analgesics due to their lack of addictive potential. However, NSAIDs have the potential to cause serious gastrointestinal, renal, and cardiovascular adverse events. CYP2C9 polymorphisms influence metabolism and clearance of several drugs in this class, thereby affecting drug exposure and potentially safety. We summarize evidence from the published literature supporting these associations and provide therapeutic recommendations for NSAIDs based on CYP2C9 genotype (updates at www.cpicpgx.org ).