How do I recognize quality?

Pharmacogenetic analyses are an innovation. For this reason, we have set ourselves the highest standards right from the beginning and comply with the EMA “Guideline on Good Pharmacogenomic Practice” (European Medicines Agency, effective since September 2018).

Our quality of analysis and reporting is characterized by:

Highly trained staff 

  • members of PharmVar, CPIC & ESPT and other committees 
  • publications in Nature, Nature Reviews Drug Discovery, PNAS, Nature Medicine, JBC etc.,  
  • national and H2020 projects,  
  • editorial boards of  several journals,
  • mainly PhDs in biology and chemistry.

Impeccable Analytics *

  • Testing all functional relevant SNPs,  
  • avoiding allele drop-out,  
  • allele-specificity,  
  • complete hybrid analysis,  
  • two independent platforms

*following EMA Guidelines, i.e. CYP2D6

Research 

  • Functional assays (promoter, splicing and protein function),
  • epigenetics,
  • liquid biopsies,
  • using endolytes for phenotyping,
  • using different sample sources blood, biopsies and stool

ISO certifications 

  • ISO 9001
  • ISO 13485

ISO 15189 verified

Differences to other providers

Attention: the fulfillment of these criteria is not a matter of course! This results in little informative value of cheap tests, so pay attention to where you run your analysis and ask suppliers if they meet the criteria for high-quality analysis: 

 

  1. Blood test instead of saliva 

    A blood sample provides a better DNA sample than saliva because there is no contamination in blood. 

  2. Large number of analyzed SNPs 

    Most laboratories often offer only the most common SNPs, but very rare genetic mutations can also completely alter or eliminate the activity of enzymes. Therefore, in order to achieve a correct result, all known and functionally relevant SNPs must be tested. 

     

  3. Especially important for CYP2D6: 

    – allele specificityOnly if you know where the mutation is, you can also provide a correct analysis result. Unfortunately, this test can only be done by very few laboratories. 

    – allele drop-out prevention, 

    – testing for non-functional hybrids 

 

Caution: Pay attention to where you carry out the analysis! The results of cheap tests can give wrong results due to lack of expertise.

Research

Our research team consists of highly specialized researchers who are members of PharmVar, CPIC & ESPT and other committees. They have already published in renowned journals such as Nature, Nature Reviews Drug Discovery, PNAS, Natural Medicine, JBC etc. and are also partly editorial members of various high-level journals. 

Recent Publications

2019

  • Vanoni S, Scantamburlo G, Dossena S, Paulmichl M and Nofziger C. TInterleukin-Mediated Pendrin Transcriptional Regulation in Airway and Esophageal Epithelia. International Journal of Molecular Sciences. In Press, 2019.

2018

  • Zeng C, Vanoni S, Wu D, Caldwell JM, Wheeler JC, Arora K, Noah TK, Waggoner L, Besse JA, Yamani AN, Uddin J, Rochman M, Wen T, Chehade M, Collins MG, Mukkada VA, Putnam PE, Naren AP, Rothenberg ME and Hogan SP. Solute carrier family 9, subfamily A, member 3 (SLC9A3)/sodium-hydrogen exchanger member 3 (NHE3) dysregulation and dilated intercellular spaces in patients with eosinophilic esophagitis. J Allergy Clin Immunol In Press, 2018.
  • Soyal SM, Zara G, Ferger B, Felder TK, Kwik M, Nofziger C, Dossena S, Schweinbacher C, Hicks AA, Pramstaller PP, Paulmichl M, Weis S and Patsch W. The PPARGC1A locus and CNS-specific PGC-1alpha isoforms are associated with Parkinson’s Disease. Neurobiol Dis. 121:34-46, 2018.
  • Nofziger C and Paulmichl M. Accurately genotyping CYP2D6 – not for the faint of heart. (Invited Editorial) Pharmacogenomics 19(13):999-1002, 2018.
  • Costa R, Civello DA, Bernardinelli E, Vanoni S, Zopf M, Scantamburlo G, Nofziger C, Patsch W, Paulmichl M and Dossena S. A Potassium-Selective Current Affected by Micromolar Concentrations of Anion Transport Inhibitors. Cell Physiol Biochem 45:867-882, 2018.
  • Roesch S, Bernardinelli E, Nofziger C, Toth M, Patsch W, Rasp G, Paulmichl M and Dossena S. Functional Testing of SLC26A4 Variants – Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria. Int J Mol Sci 19(1) 2018.

2017

  • Scantamburlo G, Tziolia K, Zopf M, Bernardinelli E, Soyal SM, Civello DA, Vanoni S, Dossena S, Patsch W, Patrinos GP, Paulmichl M and Nofziger C. Allele drop-out conferred by a frequent CYP2D6 genetic variation for commonly used CYP2D6*3 Genotyping Assays. Cell Physiol Biochem 43:2297-2309,
  • Wang N, McKell M, Dang A, Yamani A, Waggoner L, Vanoni S, Noah T, Wu D, Kordowski A, Köhl J, Hoebe K, Devanovic S and Hogam SP. Lipopolysaccharide suppresses IgE-mast cell-mediated reactions. Clin Exp Allergy 47:1574-1585, 2017.
  • Bernardinelli E, Costa R, Scantamburlo G, To J, Morabito R, Nofziger C, Doerrier C, Krumschnabel G, Paulmichl M and Dossena S. Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death. PLOS ONE 19:e0179591, 2017.

Additional Functions of our Employees

Editorial Boards:

  • American Journal of Hematology
  • Drug Metabolism and Personalized Therapy

Professional Society Memberships, Steering Committees & Expert Panels:

  • European Society of Pharmacogenomics and Personalized Therapy (ESPT)
  • Clinical Pharmacogenetics Implementation Consortium (CPIC)
  • Pharmacogene Variation Consortium (PharmVar) – Steering Committee
  • Pharmacogene Variation Consortium (PharmVar) – CYP2D6 Gene Expert Panel
  • Pharmacogene Variation Consortium (PharmVar) – DPYD Gene Expert Panel

Ad-hoc Reviewer:

  • Cellular Physiology and Biochemistry
  • Toxicology
  • Kidney and Blood Pressure Research
  • Journal of Molecular Diagnostics
  • Molecular Medicine Reports

Sources

Further information can be found on these websites:

 

PharmGenetix is a partner of the Italian Society Personalized Medicine ISPeM (Società Italiana Medicina Personalizzata, SIMeP)