Research Support

Scientific Technological Platforms

Pharmacogenetics Unit

Determination of polymorphisms validated by the FDA and the EMA in the Drug Data Sheet; and polymorphisms proposed in the literature and collected in Pharma-GKB through the MassArray Compacte © - SEQUENOM Genotyping Technology Platform.

The plates developed so far are:

  • VIP Plate: includes the validated SNPs, and also contains other SNPs with a high degree of evidence of clinical effect in the most relevant drugs (due to economic cost and/or serious adverse effects).
  • Immunosuppressants (especially drugs associated with transplants).
  • Oncology (antitumor drugs, all types, including those indicated for pediatric tumours).
  • Plaque Heart Failure

It is also possible to design future studies à la carte: prospective, retrospective studies; by pathology, by gene, by drug; at the care level or at the translational research level.

The Results Report contains:

  • The genotype of the patient in the SNPs under study, with information on the name of the gene, the SNP and the expected population frequencies for each genetic variant.
  • Explanation of the biological significance of the variants where the patient has the "unusual" form.
  • Pharmacological recommendations associated with that variant.
  • Inform about the existence of additional services offered at the Hospital or the IIS La Fe that can provide extra information about the particular case.