Development of a New Portable Genetic Analyzer for Point-of-Care Molecular Genetics and Pharmacogenomics Analysis

Traditional medicine is now moving from the "one-size-fits-all" model toward personalized medicine, where diagnostic and therapeutic decisions are guided by the patient's unique genetic profile. Recent advances in genomics and pharmacogenomics have facilitated the identification of genetic variants linked to disease susceptibility and progression, as well as variability in drug response. However, translating these findings into clinical practice remains challenging, primarily due to the high cost and sophisticated genetic analysis infrastructure, which is only available in centralized genetic laboratories. A newly developed Portable Genetic Analyzer (PortaGen) was designed for point-of-care molecular genetics and pharmacogenomics analysis and evaluated in this study. PortaGen integrates 3D-printed parts and laptop-based centralized software control, along with digital recording and storage of results to support decentralized genetic testing. The prototype portable device was validated in comparison with an established portable polymerase chain reaction (PCR) workstation that complies with current operational standards and a reference laboratory-based method. Genotyping analysis was performed using ARMS-PCR (Amplification Refractory Mutation System Polymerase Chain Reaction) to detect and analyze CYP2C19 genetic variants (CYP2C19 ∗ 2; rs4244285, and CYP2C19 ∗ 17; rs12248560), relevant to pharmacogenomics, as well as the HBB: c.93-21(G>A) genetic variant, the most common variant leading to β-thalassemia. Concordance in genotyping calls between the new device, the established portable workstation, and the reference method was assessed using percentage agreement and Cohen's kappa coefficient, demonstrating consistently high concordance with statistically significant results (p < 0.05). These findings demonstrate that the new portable genotyping analyzer has improved throughput, visualization, and workflow efficiency into a suitcase-sized, portable point-of-care molecular genetic analysis device, which holds promise to advance personalized medicine interventions in a scalable and affordable fashion.