Oncology
Inherited Conditions
Stuart Scott, PhD
Professor, Laboratory Director
Stanford
Palo Alto, California, United States
Description: This session is based on new consensus recommendations from the Association for Molecular Pathology to aid in the design and validation of clinical DPYD genotyping assays, promote standardization of testing across different laboratories, and improve patient care. The AMP Clinical Practice Committee’s Pharmacogenomics (PGx) Working Group with representation from American College of Medical Genetics and Genomics (ACMG), Clinical Pharmacogenetics Implementation Consortium (CPIC), College of American Pathologists (CAP), Dutch Pharmacogenetics Working Group (DPWG) of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy (ESPT), Pharmacogenomics Knowledgebase (PharmGKB®), and Pharmacogene Variation Consortium (PharmVar) has developed a series of recommendations to help standardize clinical testing for frequently used genotyping assays. The new DPYD report builds on the earlier clinical genotyping recommendations for CYP3A4/CYP3A5, TPMT/NUDT15, CYP2D6, genes important for warfarin testing, CYP2C9, and CYP2C19 and should be implemented along with other relevant clinical guidelines. The AMP PGx Working Group used a two-tier categorization of variants recommended for inclusion, as with previous clinical PGx genotyping assay recommendations.
Learning Objectives:
1. Review DPYD pharmacogenetics and highlight the importance of standardization of clinical pharmacogenetics and its implications to patient care.
2. Review the AMP Pharmacogenomics (PGx) Working Group ‘Tier’ system of pharmacogenetics sequence variants/alleles recommendation.
3. Explain the key attributes of Tier 1 and Tier 2 recommended alleles for DPYD genotyping.
Working Group Speaker: Yuan Ji, MS, PhD, MBA (she/her/hers) – University of Utah
Panelist: Lisa V. Kalman, PhD – Centers for Disease Control and Prevention