Social and ethical issues regarding presymptomatic diagnosis A LITERATURE REVIEW

Résumé 0

Why research the genetic status of members of a family affected by a hereditary disease andreveal this information to them, particularly when there is no treatment available? On whatbasis does the individual at risk make the decision of whether or not to find out their geneticstatus and whether or not to inform their relatives? What are the effects of the presymptomaticdiagnosis on those who chose to undergo it? How and to what extent does it change theirlives, if at all? These three questions are the starting point for the present overview of theliterature on the social and ethical issues of presymptomatic diagnosis. The analysis is basedon a corpus of 57 articles and 7 reports gathered from Scopus, Cairn and the websites ofvarious institutions, and identifies two main approaches.The first approach is to consider the decision as a rational process in which the associated risksand benefits are weighed. In a certain way, these risks and benefits have an objectiveexistence, even if they must be assessed subjectively by each individual. In this context, thepractitioner is, a priori, as well placed as the individual themself to determine the "rightdecision", either with them, or possibly in their place. A second approach is to consider thatthe decision is only one point in a long process which gradually leads people to bothincorporate and come to terms with what the illness means in their lives, and how thepresymptomatic diagnosis can influence the course of their lives. In this approach, a sharedjourney is forged between caregivers and the individual, the aim being to explore togetherthe significance the diagnosis can have for them.The issue of clinical trials as a potential motivation for receiving a presymptomatic diagnosiscomplicates the analysis by revealing long-term collective benefits, in contrast with immediateindividual risks. Should this element be considered, and if so how, should this be within theoptions presented to the individual with a view to a possible presymptomatic diagnosis? Theprotocols discussed in this review provide useful benchmarks for ethical framing both by andin practice: the relatively long time frame of the procedure, the process of collectiveexploration of what the decision may imply, and the non-interference of researchers arearguably the main features to retain.