Monday, November 27, 2023

New Fluoropyrimidine Toxicity Variants Reported in DPYS and PPARD

A recent paper highlights new variants and genes associated with severe fluoropyrimidine-related toxicity in patients who were genotyped as negative for the four DPYD variants the European Medicines Agency recommends testing for.

Online ahead of print in the Human Genomics journal is De Mattia et al "The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity" [PMID: 37946254].

The study sequenced 120 patients with fluoropyrimidine induced grade 3-5 toxicity confirming they lacked DPYD*2A, DPYD*13, c.2846A > T, c.1236G > A-HapB3. The paper reports rare and common variants including DPYS rs143004875-T and PPARD rs2016520-T which were associated with increased risk of severe toxicity.

Thursday, November 9, 2023

Save the Date: ClinPGx 2024 Meeting

In collaboration with CPIC, PharmGKB, PharmCAT and PharmVar,  the University of Pennsylvania, Penn Center for Precision Medicine will be hosting the ClinPGx 2024: Knowledge, Implementation, Education meeting June 20th and 21st, 2024 in Philadelphia, PA. The meeting will provide educational content to cover all aspects of PGx implementation including knowledgebases, implementation strategies, informatics, use of AI in precision medicine, clinical laboratory insights, and more. Additional details to soon.