Comparison of a rapid point-of-care and two laboratory-based CYP2C19*2 genotyping assays for personalisation of antiplatelet therapy
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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. Setting 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. Main outcome measures 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. Conclusion 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.
KeywordsAntiplatelet therapy CYP2C19*2 genotyping Malta Percutaneous coronary intervention Personalised medicine Point-of-care
This research was carried out in collaboration with all consultant cardiologists and staff at the Cardiology Department at Mater Dei Hospital. The authors would like to thank the Pharmacogenetics Laboratory of the Institute of Biochemistry in the Faculty of Medicine at the University of Ljubljana, Slovenia, and the Department of Clinical Pharmacy and Toxicology at the Leiden University Medical Center, The Netherlands, for providing the positive controls used in the real-time PCR genotyping. The authors would also like to thank Professor Liberato Camilleri, Head of the Department of Statistics and Operations Research in the Faculty of Science at the University of Malta, for his assistance with the statistical analysis.
This research was financially supported by the University of Malta’s Faculty of Medicine and Surgery Dean’s Initiative, the University of Malta Research Grant on Point-of-Care Testing, Technoline Ltd., Scientech Ltd., E.J. Busuttil Ltd., Malta Heart Foundation, AID Diagnostika GmbH, Orme Scientific Ltd. and LEVO Laboratory Services Ltd.
Conflicts of interest
The authors declare that they have no conflict of interest to disclose.
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