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Pharmacogenomics
Week of 1 September 2026
7 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►APOE — genotype-guided lecanemab escalation: ARIA-E in 2.0% of non-carriers versus 6.2% of ε4/ε4 homozygotes.
- ►DPYD c.257C>T — 3 of 4 carriers developed grade 3-4 toxicity, relative risk 14.5; the variant is absent from the seven routinely tested.
- ►CYP2C19-clopidogrel — the only cardiovascular drug-gene pair consistently reported cost-effective across 149 economic studies.
- ►Paediatrics — genotype-based recommendations match enzyme maturity in only 5 of 14 gene-drug pairs in newborns.
- ►CYP2D6 — amplicon long-read sequencing using CYP2D7 as an internal reference to call copy number.
- ►CYP2C9/NUDT15 — AlphaMissense misclassifies 38 stable-but-dead variants and 140 destabilized thiopurine-resistant variants.
- ►CYP2D6 — dietary solanidine and its metabolites as real-time functional phenotyping, where genotype misses phenoconversion.
7 articles of 7
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Cardiology
PubMedCost-Effectiveness of Pharmacogenomics-Guided Treatment in Cardiovascular Disease: An Umbrella Review.
Cardiovascular disease
8
CardiologyPreemptive genotyping
Pharmgenomics Pers Med 2026· AugRead
APOE
PubMedAPOE-guided lecanemab dosing dissociates ARIA-E from ARIA-H: The K-ROAD study.
Early Alzheimer disease
7
Dose recommendationAdverse reaction
Alzheimers Dement 2026· AugRead
DPYD
PubMedPrevalence and clinical impact of the uncommon DPYD c.257C>T (Pro86Leu) variant in a multiethnic cohort receiving fluoropyrimidine therapy.
Severe fluoropyrimidine toxicity
6
OncologyAdverse reactionPreemptive genotyping
Pharmacogenet Genomics 2026· AugRead
Adverse drug reactions in children
medRxivPediatric pharmacogenomics from whole-exome sequencing: developmentally appropriate interpretation in 1,159 Russian children and newborns
Adverse drug reactions in children
6
Adverse reactionPreemptive genotyping
medRxiv 2026· AugRead
CYP2D6
PubMedAmplicon-based long-read sequencing for accurate CYP2D6 gene deletion and duplication detection using CYP2D7 as a reference gene.
CYP2D6 pharmacogenetics
5
Preemptive genotyping
Pharmacogenomics J 2026· AugRead
CYP2C9/CYP2C19/NUDT15
PubMedDeep mutational scanning of CYP2C9, CYP2C19, and NUDT15 shows that pharmacogene variant interpretation requires assay-specific functional data.
Pharmacogene variant interpretation
5
Immunosuppressants
G3 (Bethesda) 2026· AugRead
CYP2D6
PubMedCurrent evidence supporting solanidine and its metabolites as biomarkers of CYP2D6 activity.
CYP2D6 functional phenotyping
5
Phenoconversion
Drug Metab Dispos 2026· JulRead
References and sources
- Cardiovascular disease. Pharmgenomics Pers Med 2026. PMID 42662837. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42662837/
- APOE — Early Alzheimer disease. Alzheimers Dement 2026. PMID 42642841. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42642841/
- DPYD — Severe fluoropyrimidine toxicity. Pharmacogenet Genomics 2026. PMID 42669144. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42669144/
- Adverse drug reactions in children. medRxiv 2026. doi:10.64898/2026.08.21.26360945. Score 6/10. https://www.medrxiv.org/content/10.64898/2026.08.21.26360945v1
- CYP2D6 — CYP2D6 pharmacogenetics. Pharmacogenomics J 2026. PMID 42649133. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42649133/
- CYP2C9/CYP2C19/NUDT15 — Pharmacogene variant interpretation. G3 (Bethesda) 2026. PMID 42667690. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42667690/
- CYP2D6 — CYP2D6 functional phenotyping. Drug Metab Dispos 2026. PMID 42664883. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42664883/
