IMPaCT-GENoMICA

IMPaCT-GENóMICA specific objective is to produce genetic studies of high complexity, in order to help with the diagnosis of rare diseases and other diseases without diagnosis equally throughout all the Spanish territory. Additionally, it answers the needs of the genetic analysis from the IMPaCT population cohort. This programme materialises the compromise, as a country, with the initiative 1M+Million Genomes.

Our participation within the pharmacogenetics field is found in the work package 5, which main objectives are:

1. Establishing and updating standardised laboratory protocols (SOPs) for severe adverse drug reactions;
2. Agree on a model for clinical reports with recommendations and produce Clinical Guidelines, based on the associations of the pharmacogenetic variants to the drugs responses.

TerGenOMIC group participates in one of the five work groups of this project: Clinical guidelines and the translation of Pharmacogenetics. Their functions:

• The creation of a Pharmacogenetics Committee. The creation of a committee made up by work associated committees.
• The development of Clinical Guidelines. The elaboration of clinical guidelines for a total of 12 drugs (Aripiprazole, clopidogrel, tacrolimus, sertraline, capecitabine, siponimod, venlafaxine, tramadol, atorvastatin, simvastatin, ondansetron, ibuprofen)
• Clinical report model with specialised recommendations. The creation of a standardised and agreed upon model for the elaboration of the clinical reports from the pharmacogenetics trials complying with the basic requirements of ISO 15189.

Project website

• Adrián Llerena

• The creation of a Pharmacogenetics Committee
• The elaboration of clinical guidelines for 12 drugs
• The development of a Phamacogenetics Report Model
• The elaboration of a quality exercise in Pharmacogenetics, Proficiency Testing 2
• The development of laboratory protocols for severe drug reactions
• The establishment of the sample flow
• Defining tools capable of analysing, prioritising and classifying complete genome variants for its use in pharmacogenetics cases.
• Complete genome sequencing on patients with adverse reactions to drugs and vaccines.
• Publications