Dihydropyrimidine dehydrogenase (DPYD) genetic testing and treatment with 5-fluoropyrimidines in cancer patients

DPYD (CPIC Level A variants: *2A c.1905+1G>A, *13 c.1679T>G, c.2846A>T, HapB3)

State of the art of DPYD testing in oncology: variants to test (CPIC Level A), genotyping strategies (targeted panel vs full sequencing), dose reduction algorithms, implementation results in different healthcare systems

Review of the state of the art of DPYD testing in clinical oncology, complementary to the ASCO Ed Book article. The article covers variants to test according to CPIC, genotyping strategies (targeted panel vs complete DPYD sequencing), implementation data in different healthcare systems (UK, Netherlands, USA, Canada), and observed results in terms of toxicity reduction in prospective cohorts. The authors also discuss phenotyping (U/UH2 test) as an alternative or complement to genotyping.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Complementary to the ASCO article, this paper provides a synthesis of real-world implementation results in different healthcare systems. The Dutch experience (universal DPYD testing since 2017) is the most mature and demonstrates significant reduction in severe grade 3-4 toxicities. Applicable for labs implementing a DPYD protocol.

CPIC Level A DPYD +2; multi-healthcare system implementation synthesis +2; Pharmacogenomics +1; complementary to ASCO article +2