title: [Genomics from bench to bedside: a change in perspective].
abstract: While genomics is sometimes presented as an area of ​​research where results can be rapidly translated into clinical practice, the facts are more ambiguous. To illustrate some of the pitfalls of translation, this article focuses on the applications of genome-wide association studies (GWAS) results. Following a brief scientific contextualization of GWAS, two emblematic examples are presented as illustrations. The case of Crohn's disease emphasizes the limits of GWAS results for individual risk prediction. The case of warfarin highlights the difficulties of demonstrating the clinical utility of genetic data in treatment decisions. The article outlines the simplification of disease causation that underlies the GWAS methodology. Whereas this reductionist approach is fruitful for exploratory research purposes, it shows its limits when applied to clinical conditions.
authors.affiliation: Cermes3 (Centre de recherche médecine, sciences, santé, santé mentale, société), Inserm U988, site CNRS, 7, rue Guy Môquet, 94801 Villejuif Cedex, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Bourgain
mesh_terms: D000925:Anticoagulants / Q000008:administration & dosage / Q000009:adverse effects / Q000493:pharmacokinetics / Q000627:therapeutic use; D001711:Biotransformation / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics; D065729:Cytochrome P-450 CYP2C9 / Q000235:genetics; D004305:Dose-Response Relationship, Drug; D005544:Forecasting; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006801:Humans; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide; D057285:Precision Medicine / Q000639:trends*; D016032:Randomized Controlled Trials as Topic; D018570:Risk Assessment; D057170:Translational Research, Biomedical / Q000639:trends*; D064417:Vitamin K Epoxide Reductases / Q000235:genetics; D014859:Warfarin / Q000008:administration & dosage / Q000009:adverse effects / Q000493:pharmacokinetics / Q000627:therapeutic use
chemical_list: D000925:Anticoagulants; D014859:Warfarin; C450260:CYP2C9 protein, human; D065729:Cytochrome P-450 CYP2C9; C578523:VKORC1 protein, human; D064417:Vitamin K Epoxide Reductases