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Pharmacogenomics
Week of 29 September 2026
8 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►DPYD — in an in-house genotyping programme, 44.9% of patients tested before treatment had their result before the first fluoropyrimidine cycle.
- ►Schizophrenia — a Super Learner model predicts PANSS reduction (R² of 0.76 in external validation on 90 patients), backed by a 13-SNP genotyping chip delivering results within 3 h.
- ►CYP2C19 — in a randomised trial of 150 patients, genotype-guided antiplatelet de-escalation did not significantly reduce bleeding (10.7% vs 12.0%; p = 0.79).
- ►Pre-emptive genotyping — adoption is relatively well documented, but evidence on implementation fidelity and sustainability remains scarce, and cost-effectiveness rests mostly on modelling.
- ►CYP3A5 — in a cross-sectional study of 92 patients with pulmonary hypertension, the reduced-activity allele is associated with higher sildenafil exposure (p = 0.043) and greater improvement in 6-minute walk distance (p = 0.005).
8 articles of 8
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DPYD
PubMedImplementation and early outcomes of an in-house DPYD genotyping program for fluoropyrimidine safety.
Fluoropyrimidine toxicity in solid tumours
6
OncologyPreemptive genotyping
Am J Clin Pathol 2026· SepRead
Psychiatry
PubMedReal-Time Precision Psychiatry for Schizophrenia: A Microfluidic Genotyping and Super-Learner Platform for Treatment Response Prediction.
Schizophrenia: antipsychotic treatment response
6
Psychiatry
Schizophr Bull 2026· SepRead
CYP2C19
PubMedPharmacogenetics-Guided De-Escalation of Dual Antiplatelet Therapy Based on CYP2C19 Testing in Patients After Acute Coronary Syndrome: Clinical Outcomes and Cost-Consequence Analysis.
Antiplatelet de-escalation after acute coronary syndrome
5
Cardiology
J Clin Med 2026· SepRead
National implementation of pharmacogenomics in Saudi Arabia
PubMedA Strategic Implementation Framework for Integrating Pharmacogenomics (PGx) into Personalized Healthcare in Saudi Arabia.
National implementation of pharmacogenomics in Saudi Arabia
4
Genes (Basel) 2026· SepRead
DPYD
PubMedAllelic Variants of the DPYD Gene in Russian Patients with Cancer: The Results of Exome Sequencing.
DPYD variants and fluoropyrimidine toxicity risk (Russian cohort)
4
OncologyRecurrent variant
Genes (Basel) 2026· SepRead
Implementation of pre-emptive pharmacogenetic testing
PubMedImplementation of preemptive pharmacogenetic testing: progress, puzzles and priorities from an implementation science perspective.
Implementation of pre-emptive pharmacogenetic testing
4
Preemptive genotyping
Front Pharmacol 2026· SepRead
SLCO1A2, SLCO1B1
PubMedAssociations of SLCO gene polymorphisms with perampanel response and plasma concentrations in patients: a longitudinal retrospective real-world study in refractory epilepsy.
Perampanel response in paediatric refractory epilepsy
4
Pharmacogenomics 2026· SepRead
CYP3A5
PubMedCYP3A5 genetic variability influences sildenafil and metabolite in pulmonary hypertension.
Pulmonary hypertension treated with sildenafil
4
Br J Clin Pharmacol 2026· SepRead
References and sources
- DPYD — Fluoropyrimidine toxicity in solid tumours. Am J Clin Pathol 2026. PMID 42803377. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42803377/
- Schizophrenia: antipsychotic treatment response. Schizophr Bull 2026. PMID 42789663. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42789663/
- CYP2C19 — Antiplatelet de-escalation after acute coronary syndrome. J Clin Med 2026. PMID 42796033. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42796033/
- National implementation of pharmacogenomics in Saudi Arabia. Genes (Basel) 2026. PMID 42793009. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42793009/
- DPYD — DPYD variants and fluoropyrimidine toxicity risk (Russian cohort). Genes (Basel) 2026. PMID 42792977. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42792977/
- Implementation of pre-emptive pharmacogenetic testing. Front Pharmacol 2026. PMID 42799099. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42799099/
- SLCO1A2, SLCO1B1 — Perampanel response in paediatric refractory epilepsy. Pharmacogenomics 2026. PMID 42802631. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42802631/
- CYP3A5 — Pulmonary hypertension treated with sildenafil. Br J Clin Pharmacol 2026. PMID 42760608. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42760608/