Le généticien de la pharmacie

LA JOLLA, CALIFORNIE – Quelques années en arrière, en juin 2000, à l’annonce du séquençage du génome humain, le président américain Bill Clinton avait déclaré : « Cela va révolutionner le diagnostique, la prévention et le traitement de la plupart, si ce n’est de toutes les maladies humaines. » Une décennie plus tard, la déception a pris le pas sur l’espoir ainsi que le reflètent certains titres de journaux : « La carte génétique délivre peu de nouveaux traitements. »  

Mais ce pessimisme autour du potentiel de la recherche sur le génome humain à générer des avancées médicales provient d’attentes irréalistes. En effet, même si les « balles d’argent » pouvant soigner nos maladies les plus redoutées n’ont pas été découvertes, les progrès dans le domaine des interactions pharmaco-génétiques, appelé la pharmacogénomique, sont extraordinaires.

La capacité à déterminer les principaux gènes responsables de nos réactions diverses aux médicaments a pu connaitre des avancées grâce à une technique connue sous le nom de GWAS (Etude d’association sur le génome dans son entier). L’ensemble du génome humain comporte approximativement six milliards de bases, mais une fenêtre sur sa composition peut être ouverte en utilisant approximativement un million de bases (0,01% du génome) via une puce génétique. Les bases sur la puce sont sélectionnées parce qu’elles sont riches d’enseignement, encodant des pelletés de génome, comme un annuaire de codes postaux. L’utilisation de la méthodologie GWAS a révélé la base biologique des réactions à de nombreux médicaments – à la fois leur efficacité et les effets secondaires importants.  

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