Evidence map›Paper›PMID 42444709›Full record

ArticleHuman mutation2026

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

Ioanna Poulida, Kariofyllis Karamperis, Ioanna Konstantina Routsi, Ioannis Sarris, George Mantzouranis, Vassilis Kostopoulos, Christina Mitropoulou, George P Patrinos

Abstract read
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Ioanna PoulidaSchool of Health Sciences, Department of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras, Patras, Greece, upatras.gr.ORCID https://orcid.org/0009-0000-4554-7868
Kariofyllis KaramperisSchool of Health Sciences, Department of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras, Patras, Greece, upatras.gr.ORCID https://orcid.org/0000-0002-3085-7799
Ioanna Konstantina RoutsiSchool of Health Sciences, Department of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras, Patras, Greece, upatras.gr.
Ioannis SarrisPolytechnic School, Department of Mechanical Engineering and Aeronautics, University of Patras, Patras, Greece, upatras.gr.
George MantzouranisPolytechnic School, Department of Mechanical Engineering and Aeronautics, University of Patras, Patras, Greece, upatras.gr.
Vassilis KostopoulosPolytechnic School, Department of Mechanical Engineering and Aeronautics, University of Patras, Patras, Greece, upatras.gr.ORCID https://orcid.org/0000-0003-0051-0732
Christina MitropoulouThe Golden Helix Foundation, London, UK.ORCID https://orcid.org/0000-0002-9184-4668
George P PatrinosSchool of Health Sciences, Department of Pharmacy, Laboratory of Pharmacogenomics and Individualized Therapy, University of Patras, Patras, Greece, upatras.gr.ORCID https://orcid.org/0000-0002-0519-7776

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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

Indexed as

Genetic TestingPharmacogeneticsPoint-of-Care SystemsCytochrome P-450 CYP2C19GenotypeHumansPrecision MedicineRapid Diagnostic TestsCYP2C19 protein, humanCytochrome P-450 CYP2C193D printingCYP2C19HBBmolecular diagnosticspersonalized medicinepharmacogenomicspoint-of-care (PoC)β-thalassemia

Identifiers

PMID42444709
PMCPMC13357681

What Socratic holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.