6533b854fe1ef96bd12af35b

RESEARCH PRODUCT

Pharmacogenetics implementation in the clinics: information and guidelines for germline variants.

Adela CañeteGladys OliveraYania YáñezVictoria CastelPablo BerlangaSalvador F. AliñoMaría José HerreroAndrea UrtasunPablo GargalloJaime Font De MoraLuis Sendra

subject

PharmGKBbusiness.industryMedicinebusinessBioinformaticsGermlinePharmacogenetics

description

The aim of this work was to supply an overview of the germline Pharmacogenetics that can be already implemented in the oncology clinical practice. An explanation of the three pillars considered necessary for determining which genetic polymorphisms should be used has been provided. These are PharmGKB single nucleotide polymorphism (SNP)-Drug Clinical Annotations with levels of evidence 1 or 2; the genetic information provided in the drug labels by the drug regulatory main agencies (Food and Drug Administration and European Medicines Agency, mainly); and the guidelines elaborated by international expert consortia (mainly Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group). A summary of the relevant SNPs and the recommendations on how to apply their results has also been compiled.

10.20517/cdr.2018.25https://pubmed.ncbi.nlm.nih.gov/35582138