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[Genomics from bench to bedside: a change in perspective]. / Génomique, de la recherche à la clinique - questions autour d'un changement de perspective.
Bourgain, Catherine.
Affiliation
  • Bourgain C; Cermes3 (Centre de recherche médecine, sciences, santé, santé mentale, société), Inserm U988, site CNRS, 7, rue Guy Môquet, 94801 Villejuif Cedex, France.
Med Sci (Paris) ; 30 Spec No 2: 14-7, 2014 Nov.
Article in Fr | MEDLINE | ID: mdl-25407452
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.
Subject(s)

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome, Human / Precision Medicine / Translational Research, Biomedical Type of study: Clinical_trials / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: Fr Journal: Med Sci (Paris) Journal subject: MEDICINA Year: 2014 Document type: Article Affiliation country: France

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome, Human / Precision Medicine / Translational Research, Biomedical Type of study: Clinical_trials / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: Fr Journal: Med Sci (Paris) Journal subject: MEDICINA Year: 2014 Document type: Article Affiliation country: France