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. 2025 Mar;27(3):209-215.
doi: 10.1016/j.jmoldx.2024.12.001. Epub 2024 Dec 24.

Development and Validation of a Rapid Point-of-Care CYP2C19 Genotyping Platform

Kerry A Burke  1 , James O'Sullivan  2 , Nicola Godfrey  2 , Videha Sharma  2 , Sian Hilton  2 , Stuart J Wright  3 , Nicholas S Greaves  4 , William G Newman  5 , John H McDermott  6
Affiliations

Development and Validation of a Rapid Point-of-Care CYP2C19 Genotyping Platform

Kerry A Burke et al. J Mol Diagn. 2025 Mar.

Abstract

Pharmacogenetic-guided prescribing can lead to more accurate medicine selection and dosing, improving patient outcomes and leading to better use of health care budgets. Loss-of-function variants in CYP2C19 influence an individual's ability to metabolize 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 Kit, which provides rapid point-of-care genotyping from a buccal swab in approximately 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% CI, 95.0%-100%) and 100% (95% CI, 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, noninvasive alternative to standard laboratory testing and can be used as a point-of-care test in the clinical environment.

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Conflict of interest statement

Disclosure Statement J.H.M., V.S., and W.G.N. are cofounders of Fava Health, a health technology consultancy. Genedrive was one of several industry coapplicants with the authors on the Innovate UK-funded Development and Validation of Technology for Time Critical Genomic Testing Programme (10058536), which supported this work.

Figures

Figure 1
Figure 1
Results flow diagram. Samples were tested via the Genedrive CYP2C19 ID Kit, before clinical reference testing via the Agena Veridose Core V1.0 panel (Agena Bioscience, San Diego, CA). Any discordant or failed results from the Agena testing were sequenced via gold standard Sanger sequencing. POCT, point-of-care test.
Supplemental Figure S1
Supplemental Figure S1
Melt curve analysis. A: All possible melt profiles across three tubes. B: Possible melt profiles in tube 1 (∗2 and ∗35). C: Possible melt profiles in tube 2 (∗3 and ∗8). D: Possible melt profiles in tube 3 (∗17 and ∗4). IPC, internal positive control; VAR, variant allele; WT, wild type.
See this image and copyright information in PMC

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