Pharmacogenetics: From Bench to Byte— An Update of Guidelines

@article{Swen2011PharmacogeneticsFB,
  title={Pharmacogenetics: From Bench to Byte— An Update of Guidelines},
  author={J. J. Swen and Marga Nijenhuis and Antonius de Boer and L. Grandia and A. H. Maitland‐van der Zee and H Mulder and GA Rongen and R H N Schaik and Tom Schalekamp and D. J. Touw and Jan van der Weide and Bob Wilffert and V H Deneer and H. J. Guchelaar},
  journal={Clinical Pharmacology \& Therapeutics},
  year={2011},
  volume={89}
}
Currently, there are very few guidelines linking the results of pharmacogenetic tests to specific therapeutic recommendations. Therefore, the Royal Dutch Association for the Advancement of Pharmacy established the Pharmacogenetics Working Group with the objective of developing pharmacogenetics‐based therapeutic (dose) recommendations. After systematic review of the literature, recommendations were developed for 53 drugs associated with genes coding for CYP2D6, CYP2C19, CYP2C9, thiopurine‐S… 
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845 Citations

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Differences by head‐to‐head comparison of the existing pharmacogenomics guidelines are discussed and new strategies for their future development are proposed.
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Suggestions and areas of focus are provided to develop a guide for clinical practice in pharmacogenomics testing, and the relative importance of 29 gene/drug pairs in the Spanish study are compared with those in the American Society for Clinical Pharmacology and Therapeutics study.
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References

SHOWING 1-10 OF 14 REFERENCES
Pharmacogenetics: From Bench to Byte
TLDR
The use of pharmacogenetic recommendations in routine clinical practice remains difficult, because they are currently outside the ambit of the clinical environment and are not accessible during the decision‐making process by physicians and pharmacists, namely the prescription and dispensing of drugs.
Genotype-guided dosing of coumarin derivatives: the European pharmacogenetics of anticoagulant therapy (EU-PACT) trial design.
TLDR
The European Pharmacogenetics of Anticoagulant Therapy (EU-PACT) trial will assess, in a single-blinded and randomized controlled trial with a follow-up period of 3 months, the safety and clinical utility of genotype-guided dosing in daily practice for the three main coumarin derivatives used in Europe.
CYP2D6 and CYP2C19 genotype‐based dose recommendations for antidepressants:
a first step towards subpopulation‐specific dosages
TLDR
This review aimed to provide distinct dose recommendations for antidepressants based on the genotypes of cytochrome P450 enzymes CYP2D6 and CYP1C19 to provide a useful complementation to clinical monitoring and therapeutic drug monitoring.
Clinically Available Pharmacogenomics Tests
The development of robust and clinically valuable pharmacogenomic tests has been anticipated to be one of the first tangible results of the Human Genome Project. Despite both obvious and…
Role of warfarin pharmacogenetic testing in clinical practice.
TLDR
The pharmacogenetics of warfarin metabolism and the clinical role of genetic testing forwarfarin therapy are reviewed and it is suggested that the pharmacogenomics-guided dosing algorithm can accurately predict warFarin dosage and might reduce adverse events.
A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin.
TLDR
Genetic variants of the VKORC1 gene locus modulate the mean daily dose of drug prescribed to acquire the target anticoagulation intensity and accounted for about a third of the interindividual variability in the present setting.
Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose.
TLDR
VKORC1 haplotypes can be used to stratify patients into low-, intermediate-, and high-dose warfarin groups and may explain differences in dose requirements among patients of different ancestries.
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2
TLDR
The gene vitamin K epoxide reductase complex subunit 1 (VKORC1), which encodes a small transmembrane protein of the endoplasmic reticulum, is identified, by using linkage information from three species, to be involved in two heritable human diseases.
Identification of the gene for vitamin K epoxide reductase
Vitamin K epoxide reductase (VKOR) is the target of warfarin, the most widely prescribed anticoagulant for thromboembolic disorders. Although estimated to prevent twenty strokes per induced bleeding…
Relative Impact of Genotype and Enzyme Induction on the Metabolic Capacity of CYP2C9 in Healthy Volunteers
TLDR
In 130 volunteers, CYP2C9 activity was measured in vivo using tolbutamide as a probe drug, and the pharmacokinetics of the drug was analyzed twice—before and after four doses of 450 mg rifampin.
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