Development, validation and clinical implementation of cellular swab materials for quality assurance of pharmacogenomic point-of-care testing

Abstract

BackgroundPharmacogenomic point-of-care testing (PGx POCT) enables genotype-informed prescribing at the bedside, but implementation is limited by the lack of suitable reference materials for clinical verification and standardised external quality assessment (EQA). MethodsFixed lymphoblastoid cell lines were formulated as swab-based materials at defined cellular inputs for MT-RNR1 POCT. Materials were evaluated using Genedrive(R) assays, quantitative PCR, acceptance quality limit batch release, workflow-perturbation testing and stability studies, then deployed for clinical verification and in an international EQA programme. ResultsMaterials were homogeneous, workflow compatible and reproducible, with 100% correct genotype calls at the lowest intended manufacturing cell load. Clinical verification of 11 Genedrive(R) systems across five neonatal units demonstrated 99% concordance with expected genotype classifications (232/234 results). Seven EQA surveys yielded 253 participant results, with full-mark rates of 87.5-100%, and six test failures. Most failures occurred with low cell-input materials near the assay limit of detection. The materials supported genotype concordance, performance monitoring and identification of workflow and sample-related variability. ConclusionsWorkflow-compatible cell-based reference materials combined with EQA provide a scalable framework for quality-assured PGx POCT beyond specialist laboratories. Clinical verification of Genedrive(R) systems within neonatal units using the cell-based swab materials, together with deployment of an International MT-RNR1 PGx POCT EQA programme, demonstrated their suitability for supporting both pre-implementation testing and ongoing quality assurance in decentralised healthcare settings. The framework may provide a model for the implementation, clinical verification and ongoing quality assessment of PGx POCT services. Further evaluation across platforms, analytes, settings and participant groups is required to establish broader applicability.