Abstracts
Résumé
La localisation et l’identification de deux gènes de prédisposition au cancer du sein et/ou de l’ovaire, BRCA1 et BRCA2, ont permis l’introduction dans les nouvelles pratiques cliniques, de tests biologiques de prédisposition génétique destinés aux personnes supposées à haut risque. La diffusion de ces nouvelles pratiques médicales et biologiques se fait avec les difficultés traditionnelles de toute activité innovante, auxquelles peuvent s’ajouter de fortes incertitudes relatives à la revendication de droits de propriété sur les gènes et au financement des actes médicaux et biologiques. Dans ce contexte, l’évolution de l’offre de tests de prédisposition génétique est analysée à travers deux enquêtes réalisées pour décrire les profils d’activité en 1998 et en 2001 de l’ensemble des acteurs médicaux impliqués en France dans ces nouvelles pratiques : les médecins assurant les consultations d’oncologie génétique, les centres où ont lieu ces consultations spécialisées et les laboratoires associés réalisant les analyses de biologie moléculaire.
Summary
One example of the recent advances of scientific research on the human genome is the identification of two susceptibility genes to breast/ovarian cancer, BRCA1 and BRCA2, making possible the introduction in medical practices of genetic testing to detect patients with an increased risk of developing such cancers. In this context of diffusion, two surveys were carried out to appraise the activity profiles in 1998 and in 2001 of all the different participants in those new medical practices in France, physicians in charge of genetic counselling, medical centres where consultations take place and laboratories. Results show that over the period 1998-2001, few changes occurred, mainly the reduction of the average waiting time to get the result of a genetic test, the increase in the annual number of BRCA2 families identified to a level similar to the one of BRCA1 and the automation of the biological analyses without noting a considerable increase in the annual output of laboratories till 2001 however. This surprising moderate evolution must be connected to the existence of some particular external factors making the framework of the development of these new medical and biological practices and their future really uncertain. The diffusion of BRCA1/2 genetic testing has been carried out facing the traditional difficulties of any innovating activities, but also the uncertainties related to intellectual property rights on genes and the reimbursement of genetic counselling and biological testing. These uncertainties have certainly restrained the pace of change as many actors in this field have opted for a wait and see strategy bearing in mind the possible future constraints imposed to their future activity, especially if European patents on the BRCA1/2 genes are finally granted by the European patent office (EPO).
Appendices
Références
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