Pharmacogenetic guided prescribing can lead to more accurate medicine selection and dosing, improving patient outcomes and leading to better use of healthcare budgets. Loss of function (LoF) variants in CYP2C19 influence an individual's ability to metabolise clopidogrel, increasing the risk of secondary vascular events following ischemic stroke and percutaneous coronary intervention. In acute clinical contexts, centralized laboratory-based testing is too slow to inform timely clinical decision making. This work reports the development and analytical validation of the Genedrive CYP2C19 ID (Genedrive PLC, Manchester, United Kingdom) kit which provides rapid point of care genotyping from a buccal swab in ∼1 hour. Buccal samples were collected from a total of 204 individuals between September 2023 and July 2024, alongside a blood or saliva sample for comparison with laboratory testing. In the final cohort of 202 patients, all point of care results were concordant with laboratory testing. In this assessment, the sensitivity and specificity of the CYP2C19 ID kit was 100% (95.0-100%) and 100% (97.2-100%) respectively. The failure rate of the CYP2C19 ID kit was 0.98%. This study confirms the analytical validity of the Genedrive CYP2C19 ID kit. The Genedrive system is able to provide an accurate, rapid, non-invasive alternative to standard laboratory testing and can be used as a point of care test in the clinical environment.
Copyright © 2024. Published by Elsevier Inc.