{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T04:04:46Z","timestamp":1783915486264,"version":"3.55.0"},"reference-count":39,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,7,12]],"date-time":"2026-07-12T00:00:00Z","timestamp":1783814400000},"content-version":"vor","delay-in-days":192,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100009043","name":"University of Patras","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009043","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Traditional medicine is now moving from the \u201cone\u2010size\u2010fits\u2010all\u201d model toward personalized medicine, where diagnostic and therapeutic decisions are guided by the patient\u2019s 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\u2010of\u2010care molecular genetics and pharmacogenomics analysis and evaluated in this study. PortaGen integrates 3D\u2010printed parts and laptop\u2010based 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\u2010based method. Genotyping analysis was performed using ARMS\u2010PCR (Amplification Refractory Mutation System Polymerase Chain Reaction) to detect and analyze\n                    <jats:italic>CYP2C19<\/jats:italic>\n                    genetic variants (\n                    <jats:italic>CYP2C19<\/jats:italic>\n                    \u2217\n                    <jats:italic>2; rs4244285<\/jats:italic>\n                    , and\n                    <jats:italic>CYP2C19<\/jats:italic>\n                    \u2217\n                    <jats:italic>17<\/jats:italic>\n                    ;\n                    <jats:italic>rs12248560<\/jats:italic>\n                    ), relevant to pharmacogenomics, as well as the\n                    <jats:italic>HBB: c.93-21(G&gt;A)<\/jats:italic>\n                    genetic variant, the most common variant leading to\n                    <jats:italic>\u03b2<\/jats:italic>\n                    \u2010thalassemia. Concordance in genotyping calls between the new device, the established portable workstation, and the reference method was assessed using percentage agreement and Cohen\u2019s kappa coefficient, demonstrating consistently high concordance with statistically significant results (p &lt; 0.05). These findings demonstrate that the new portable genotyping analyzer has improved throughput, visualization, and workflow efficiency into a suitcase\u2010sized, portable point\u2010of\u2010care molecular genetic analysis device, which holds promise to advance personalized medicine interventions in a scalable and affordable fashion.\n                  <\/jats:p>","DOI":"10.1155\/humu\/9614566","type":"journal-article","created":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T03:19:34Z","timestamp":1783912774000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Development of a New Portable Genetic Analyzer for Point\u2010of\u2010Care Molecular Genetics and Pharmacogenomics 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