Les enjeux de la translation des technologies : le cas des tests
de pharmacogénétique au Québec

Problematic: The advent of pharmacogenetic testing was heralded in the media and in scientific literature as a revolution and the dawn of a new era of personalized medicine. This revolution has yet to arrive. The literature describes several legislative, scientific, professional and ethical barriers that are causing a delay in the translation of pharmacogenetic testing into clinical practice. In Quebec, is there optimism about pharmacogenetics and do these barriers exist? And in what context is the integration of pharmacogenetic testing taking place? At present, these questions remain unanswered. Yet they are of critical importance. While there are growing expectations and pressure on the Quebec health system to rapidly incorporate genetic technology, the lack of planning and of mechanisms for the translation of this technology may jeopardize its adequate transfer and use. Objectives: The first objective was to gain clearer and fuller insight and understanding into the conditions of use and translation of pharmacogenetic testing in Quebec and its related issues. The second was to identify the message being conveyed about pharmacogenetics in various sources, including the media. The issue at hand was not whether pharmacogenetics should or should not be integrated into clinical practice, but rather to put into perspective the hopes being set forth regarding pharmacogenetics and the realistic nature of the enterprise. The purpose of the exercise was to provide a framework for thinking about the development of efficient translation mechanisms and the policies associated with it. Methodology: Discourse analyses of several documentary sources (n=167) in Quebec and Canada (1990-2005) and interviews with Quebec experts (n=19) were conducted. Four themes were explored: 1) the positioning and perception of pharmacogenetics; 2)the advantages and risks associated with its use; 3) the roles of various professionals and the tensions that exist among them; 4) the barriers and solutions to translation. Results: Analysis of the representations of pharmacogenetics in the documentary sources revealed a divide between two distinct poles. On the one hand, the optimistic representations showed a fascination with personalized medicine, creating expectations (“Genohype”) regarding the introduction of pharmacogenetics to the clinical setting. On the other hand, the highly sceptical pessimistic representations (“Genomyth”) of pharmacogenetics seemed to be permeated by the history of negative media representations of genetics. Furthermore, analyses of the interviews shed light on the current social, political and clinical context. In fact, according to the experts interviewed, this context is characterized by legislative shortcomings and a dysfunctional organizational structure, which have led to a limited, fragmented and non-standardized use of pharmacogenetic testing. Added to this is a lack of clinical data, an absence of communication among various ill-informed or uninformed players and both resistance and fear among certain professionals. Discussion: Many regulatory changes to the innovation system and current context are needed to ensure access to pharmacogenetic testing in the present clinical setting. Mechanisms to facilitate the translation of technology and the key factors needed for success are also described. Finally, several flagship initiatives are suggested. Conclusion: International, national, provincial and local efforts are required to overcome the various barriers to the translation of pharmacogenetic testing into clinical practice in Quebec and thus plan the future in the safest, most efficient manner possible.

Keyphrases: Translation, Pharmacogenetics, Translation, Barriers, Clinical practice, Quebec context, Social representations, Media, Genetics optimism, Governance, Knowledge transfer