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Clinical pharmacogenomics in action: design, assessment and implementation of a novel pharmacogenetic panel supporting drug selection for diseases of the central nervous system (CNS)

  • Bothos, E.1, 2
  • Ntoumou, E.3
  • Kelaidoni, K.3
  • Roukas, D.4
  • Drakoulis, N.5
  • Papasavva, M.5
  • Karakostis, F. A.6
  • Moulos, P.1, 7
  • Karakostis, K.3
  • 1 HybridStat Predictive Analytics, Athens, Greece , Athens (Greece)
  • 2 National Technical University of Athens, Athens, Greece , Athens (Greece)
  • 3 iDNA Genomics Private Company, Evrota 25, Kifissia, Athens, 145 64, Greece , Athens (Greece)
  • 4 Army Hospital (NIMTS), 417 Veterans, Athens, 115 21, Greece , Athens (Greece)
  • 5 National and Kapodistrian University of Athens, Panepistimiopolis, Zografou, 15771, Greece , Zografou (Greece)
  • 6 University of Tübingen, Tübingen, Germany , Tübingen (Germany)
  • 7 Institute for Fundamental Biomedical Research, Biomedical Sciences Research Center ‘Alexander Fleming’, 34 Fleming str, Athens, Vari, 16672, Greece , Athens (Greece)
Published Article
Journal of Translational Medicine
Springer (Biomed Central Ltd.)
Publication Date
Apr 15, 2021
DOI: 10.1186/s12967-021-02816-3
Springer Nature


BackgroundPharmacogenomics describes the link between gene variations (polymorphisms) and drug responses. In view of the implementation of precision medicine in personalized healthcare, pharmacogenetic tests have recently been introduced in the clinical practice. However, the translational aspects of such tests have been limited due to the lack of robust population-based evidence.MaterialsIn this paper we present a novel pharmacogenetic panel (iDNA Genomics-PGx–CNS or PGx–CNS), consisting of 24 single nucleotide polymorphisms (SNPs) on 13 genes involved in the signaling or/and the metabolism of 28 approved drugs currently administered to treat diseases of the Central Nervous System (CNS). We have tested the PGx–CNS panel on 501 patient-derived DNA samples from a southeastern European population and applied biostatistical analyses on the pharmacogenetic associations involving drug selection, dosing and the risk of adverse drug events (ADEs).ResultsResults reveal the occurrences of each SNP in the sample and a strong correlation with the European population. Nonlinear principal component analysis strongly indicates co-occurrences of certain variants. The metabolization efficiency (poor, intermediate, extensive, ultra-rapid) and the frequency of clinical useful pharmacogenetic, associations in the population (drug relevance), are also described, along with four exemplar clinical cases illustrating the strong potential of the PGx–CNS panel, as a companion diagnostic assay. It is noted that pharmacogenetic associations involving copy number variations (CNVs) or the HLA gene were not included in this analysis.ConclusionsOverall, results illustrate that the PGx–CNS panel is a valuable tool supporting therapeutic medical decisions, urging its broad clinical implementation.

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