Pharmacogenomics

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Pharmacogenomics

Week of 10 June 2026

12 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►L-asparaginase / rs149210846 — GWAS in 1086 ALL children identifies a genetic variant multiplying L-asparaginase severe pancreatitis risk by 8.9, with excess risk in Admixed-American and Asian ancestries.
►DPYD — exhaustive sequencing identifies significantly more actionable pathogenic variants than AMP Tier 1/2 targeted genotyping panels across 9 years of clinical data.
►DPYD / FDA 2025 — new FDA boxed warning for capecitabine and 5-FU, with ASCO institutional implementation strategies for pre-therapeutic testing.
►NUDT15 / TPMT — Thai prospective cohort validating combined TPMT+NUDT15 phenotyping as a 6-MP toxicity prediction tool in Asian pediatric ALL.

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L-asparaginase — novel germline genetic risk factor (rs149210846) identified by GWAS for severe drug-induced pancreatitis in pediatric oncohematology

Novel Genetic Risk Factor Identified for L-Asparaginase-Induced Pancreatitis in Pediatric Patients With Cancer

L-asparaginase — novel germline genetic risk factor (rs149210846) identified by GWAS for severe drug-induced pancreatitis in pediatric oncohematology

New interactionAdverse reaction

Pediatr Blood Cancer 2026· MarRead

DPYD Sequencing Identifies More Clinically Relevant Variants as Compared to Targeted Genotyping

DPYD deficiency — exhaustive sequencing vs targeted genotyping to identify patients at risk of fluoropyrimidine toxicity

OncologyCPIC Level ADose recommendation

Clin Chem 2026· JunRead

Importance of and Strategies for Implementing DPYD Testing to Prevent Severe Fluoropyrimidine Chemotherapy Toxicity in Health Care Systems

DPYD testing implementation before fluoropyrimidines — 2025 FDA recommendations and institutional deployment strategies

OncologyCPIC Level ADose recommendation

Am Soc Clin Oncol Educ Book 2026· AprRead

Immunosuppressants

Pharmacogenomics of treatment toxicities in pediatric B-Cell ALL: toward safer precision therapy

Pharmacogenomics of treatment toxicities in pediatric B-ALL — TPMT, NUDT15, DPYD, and other CPIC genes

ImmunosuppressantsCPIC Level ADose recommendation

Front Pharmacol 2026· JunRead

Haplo2D6: a web-based tool for automated CYP2D6 haplotype and phenotype inference

CYP2D6 — Haplo2D6 web tool for automated metabolizer haplotype and phenotype inference from genotyping data

New toolDose recommendation

Bioinform Adv 2026· MayRead

Population Genomics Insights into Pharmacogenomic Differentiation Between East Asians and Europeans

Pharmacogenomic differentiation between East Asian and European populations — evolutionary disparities and implications for PGx panels

DiabetesRecurrent variant

Clin Pharmacol Ther 2026· JunRead

Plasma CYP induction — RT-qPCR on exosomes as non-invasive biomarker of enzymatic induction and drug-drug interactions

Evaluation of cytochrome P450 (CYP) induction using RT-qPCR in exosomes isolated from plasma samples: Method development and qualification

Plasma CYP induction — RT-qPCR on exosomes as non-invasive biomarker of enzymatic induction and drug-drug interactions

PhenoconversionNew tool

Br J Clin Pharmacol 2026· JanRead

Evaluation of a pantoprazole and 4-desmethylpantoprazole-sulfate metabolic ratio as a novel CYP2C19 phenotyping method

CYP2C19 functional phenotyping — validation of pantoprazole/4-desmethylpantoprazole-sulfate metabolic ratio as phenotyping probe

PhenoconversionNew interaction

Br J Clin Pharmacol 2026· MayRead

Integrating pharmacogenetic and clinical factors to predict the C0/D/W-based tacrolimus phenotype in kidney transplantation

Tacrolimus — pharmacogenetic prediction of pharmacokinetic phenotype (C0/D/W) in kidney transplantation by integrating CYP3A4/CYP3A5 variants and clinical factors

Dose recommendationRecurrent variant

Front Pharmacol 2026· MayRead

CYP3A4 drug-drug interaction — voriconazole and posaconazole impact on cyclosporine in pediatric allogeneic HSCT recipients

Impact of voriconazole/posaconazole on CsA in paediatric allogeneic haematopoietic stem cell transplantation recipients: A real-world study

CYP3A4 drug-drug interaction — voriconazole and posaconazole impact on cyclosporine in pediatric allogeneic HSCT recipients

PhenoconversionDose recommendation

Br J Clin Pharmacol 2026· MayRead

Considerations for the clinical implementation of DPYD and UGT1A1-guided chemotherapy

DPYD and UGT1A1 — clinical implementation of pharmacogenomic testing guiding fluoropyrimidine and irinotecan chemotherapy

OncologyCPIC Level ADose recommendation

Pharmacogenomics 2026· JunRead

6-Mercaptopurine metabolic profiles and clinical outcomes in TPMT and NUDT15 phenotypes during maintenance therapy for Thai paediatric acute lymphoblastic leukaemia

6-mercaptopurine — metabolic profiles and clinical toxicity by combined TPMT/NUDT15 phenotype in Thai pediatric ALL

ImmunosuppressantsCPIC Level ADose recommendation

Br J Clin Pharmacol 2026· JunRead

References and sources

L-asparaginase — novel germline genetic risk factor (rs149210846) identified by GWAS for severe drug-induced pancreatitis in pediatric oncohematology. Pediatr Blood Cancer 2026. PMID 41889154. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/41889154/
DPYD — DPYD deficiency — exhaustive sequencing vs targeted genotyping to identify patients at risk of fluoropyrimidine toxicity. Clin Chem 2026. PMID 41802113. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/41802113/
DPYD — DPYD testing implementation before fluoropyrimidines — 2025 FDA recommendations and institutional deployment strategies. Am Soc Clin Oncol Educ Book 2026. PMID 42048619. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42048619/
Pharmacogenomics of treatment toxicities in pediatric B-ALL — TPMT, NUDT15, DPYD, and other CPIC genes. Front Pharmacol 2026. PMID 42239520. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42239520/
CYP2D6 — CYP2D6 — Haplo2D6 web tool for automated metabolizer haplotype and phenotype inference from genotyping data. Bioinform Adv 2026. PMID 42222670. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42222670/
Pharmacogenomic differentiation between East Asian and European populations — evolutionary disparities and implications for PGx panels. Clin Pharmacol Ther 2026. PMID 42233542. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42233542/
Plasma CYP induction — RT-qPCR on exosomes as non-invasive biomarker of enzymatic induction and drug-drug interactions. Br J Clin Pharmacol 2026. PMID 41572505. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/41572505/
CYP2C19 — CYP2C19 functional phenotyping — validation of pantoprazole/4-desmethylpantoprazole-sulfate metabolic ratio as phenotyping probe. Br J Clin Pharmacol 2026. PMID 42219154. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42219154/
CYP3A5 — Tacrolimus — pharmacogenetic prediction of pharmacokinetic phenotype (C0/D/W) in kidney transplantation by integrating CYP3A4/CYP3A5 variants and clinical factors. Front Pharmacol 2026. PMID 42222142. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42222142/
CYP3A4 drug-drug interaction — voriconazole and posaconazole impact on cyclosporine in pediatric allogeneic HSCT recipients. Br J Clin Pharmacol 2026. PMID 42210030. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42210030/
DPYD — DPYD and UGT1A1 — clinical implementation of pharmacogenomic testing guiding fluoropyrimidine and irinotecan chemotherapy. Pharmacogenomics 2026. PMID 42249948. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42249948/
NUDT15 — 6-mercaptopurine — metabolic profiles and clinical toxicity by combined TPMT/NUDT15 phenotype in Thai pediatric ALL. Br J Clin Pharmacol 2026. doi:10.1002/bcp.70634. Score 6/10. https://bpspubs.onlinelibrary.wiley.com/doi/10.1002/bcp.70634?af=R