title: Comparison of a rapid point-of-care and two laboratory-based CYP2C19*2 genotyping assays for personalisation of antiplatelet therapy.
abstract: BACKGROUND
  A quick CYP2C19*2 genotyping assay can be useful in personalised antiplatelet-therapy.
  
  
  OBJECTIVE
  To apply a rapid point-of-care (POC) CYP2C19*2 genotyping assay for personalisation of antiplatelet therapy in patients undergoing percutaneous coronary intervention (PCI) and to compare this POC assay to two laboratory-based CYP2C19*2 genotyping assays.
  
  
  METHODS
  Cardiac Catheterisation Suite and Molecular Diagnostics Unit in a general hospital.
  
  
  METHODS
  A buccal sample was collected for POC CYP2C19*2 genotyping with the Spartan™ RX system (Spartan Bioscience). A whole blood sample was collected from the same patients for laboratory-based CYP2C19*2 genotyping with a TaqMan® allelic discrimination assay (Life Technologies) using real-time quantitative PCR and with the GenID® reverse dot-blot hybridisation assay (Autoimmun Diagnostika GmbH). Each patient was genotyped as a non-carrier of CYP2C19*2 (*1/*1), a carrier of one CYP2C19*2 allele (*1/*2), or a carrier of two CYP2C19*2 alleles (*2/*2). Genotyping, interpretation and communication of genotype results (*1/*2, *2/*2) to the consultant cardiologist was undertaken by a clinical pharmacist researcher. Quantitative and qualitative comparison between the three assays was carried out.
  
  
  METHODS
  Application of a rapid POC CYP2C19*2 genotyping assay for antiplatelet therapy individualisation; comparison of the POC CYP2C19*2 genotyping assay to two laboratory-based assays.
  
  
  RESULTS
  The total sample consisted of 34 Caucasian patients. With the POC assay, 21 patients were genotyped as non-carriers of CYP2C19*2, 12 patients as carriers of one CYP2C19*2 allele and one patient as a carrier of two CYP2C19*2 alleles. With both laboratory-based assays, the same 21 patients were genotyped as non-carriers of CYP2C19*2, however 13 patients were genotyped as carriers of one CYP2C19*2 allele and no patients were genotyped as carriers of two CYP2C19*2 alleles. Agreement in genotype results was 97 % (κ = 0.939) between the POC assay and both laboratory-based assays and 100 % (κ = 1.000) between the two laboratory-based assays.
  
  
  CONCLUSIONS
  Compared to both laboratory-based genotyping assays, the POC assay is accurate and reliable, provides rapid results, can process single samples, is portable and more operator-friendly, however the tests are more expensive.
authors.affiliation: Department of Pharmacy, Faculty of Medicine and Surgery, University of Malta, Msida, Malta. francesca.wirth@um.edu.mt.
authors.forename: Francesca
authors.identifier: http://orcid.org/0000-0002-3225-2363
authors.initials: F
authors.lastname: Wirth
authors.affiliation: Molecular Diagnostics Unit, Department of Pathology, Mater Dei Hospital, Msida, Malta.
authors.forename: Graziella
authors.initials: G
authors.lastname: Zahra
authors.affiliation: Cardiac Catheterisation Suite, Department of Cardiology, Mater Dei Hospital, Msida, Malta.
authors.forename: Robert G
authors.initials: RG
authors.lastname: Xuereb
authors.affiliation: Molecular Diagnostics Unit, Department of Pathology, Mater Dei Hospital, Msida, Malta.
authors.forename: Christopher
authors.initials: C
authors.lastname: Barbara
authors.affiliation: Cardiac Catheterisation Suite, Department of Cardiology, Mater Dei Hospital, Msida, Malta.
authors.forename: Albert
authors.initials: A
authors.lastname: Fenech
authors.affiliation: Department of Pharmacy, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.
authors.forename: Lilian M
authors.initials: LM
authors.lastname: Azzopardi
mesh_terms: D000368:Aged; D019411:Clinical Laboratory Techniques / Q000379:methods / Q000592:standards*; D015331:Cohort Studies; D065731:Cytochrome P-450 CYP2C19 / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010975:Platelet Aggregation Inhibitors / Q000627:therapeutic use*; D019095:Point-of-Care Systems / Q000592:standards*; D057285:Precision Medicine / Q000379:methods / Q000592:standards*; D011446:Prospective Studies; D013997:Time Factors
chemical_list: D010975:Platelet Aggregation Inhibitors; C045793:CYP2C19 protein, human; D065731:Cytochrome P-450 CYP2C19
keywords: Antiplatelet therapy; CYP2C19*2 genotyping; Malta; Percutaneous coronary intervention; Personalised medicine; Point-of-care