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Moving Beyond Single Gene-Drug Pairs in Clinical Pharmacogenomics Testing
Pharmacogenomics (PGx) studies the associations between discrete variants in single genes and the phenotype for specific aspects of a drug’s pharmacokinetics or pharmacodynamics. These associations are used to qualify patients for therapy (e.g., CYP2C19 and clopidogrel), to avoid drug-related adverse events (e.g., TPMT and mercaptopurines), and to optimize drug and dose selection (e.g., CYP2D6 and several antidepressants). However, clinical PGx testing based on single gene-drug associations has limited clinical utility when patients take more than one medication. For some drugs, limitations of single gene-drug associations may be mitigated by combining the testing of several pharmacogenes based on single gene-drug associations along with clinical and demographic factors. Emerging evidence shows the benefits of multi-gene panels in clinical PGx testing. This presentation will review examples of single and multi-gene PGx testing applied to drug therapy decisions.
Originally presented on September 18, 2019, in Salt Lake City, Utah.
Lecture Presenters
 | Yuan Ji, PhD, DABCP, FACMG Medical Director, Molecular Genetics and Genomics; Medical Director, Pharmacogenomics |
Dr. Yuan Ji is an Assistant Professor of Pathology at the University of Utah School of Medicine. She received her PhD in Molecular Pharmacology and Experimental Therapeutics at the Mayo Clinic in Rochester, Minnesota, where she further completed her postdoctoral research fellowship in Pharmacogenomics, an NIH-T32 Clinical Pharmacology fellowship and an ABMGG fellowship in Clinical Molecular Genetics. Dr. Ji received multiple early career development awards and grants, including an NIH-KL2 Mentored Career Award and a Minnesota Partnership for Biotechnology and Medical Genomics Award. Dr. Ji is board certified in both Clinical Pharmacology and Medical Genetics and Genomics. Dr. Ji’s major clinical and research focus is in Pharmacogenomics, i.e., identifying novel Pharmacogenomics markers and accurately testing, interpreting, and reporting pharmacogenomic variants. In addition, Dr. Ji also developed a vast interest in developing cost-effective diagnostic testing for diseases including somatic overgrowth and related syndromes.
 | Gwendolyn A. McMillin, PhD Medical Director, Toxicology; Medical Director, Pharmacogenetics; Scientific Director, Mass Spectrometry |
Dr. McMillin is a professor of pathology at the University of Utah School of Medicine. She received her PhD in pharmacology and toxicology from the University of Utah and is certified by the American Board of Clinical Chemistry in clinical chemistry and toxicological chemistry. She is a member of ARUP’s R&D Executive Committee, and is actively involved in professional associations such as the International Association of Therapeutic Drug Monitoring and Clinical Chemistry (IATDMCT), the American Association for Clinical Chemistry (AACC), and the College of American Pathologists (CAP). Her primary interests include detection of neonatal drug exposures, pain management, and clinical applications and implementation of pharmacogenomics.
Objectives
After this presentation, participants will be able to:
- Describe the strengths and limitations of pharmacogenomic testing.
- List examples of single gene-drug associations with the strongest levels of evidence for clinical implementation.
- Discuss cautions when considering the use of multiple gene-drug associations to inform drug therapy decisions.
Sponsored by:
University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories