The projects of the Fondation 101 Génomes are not trivial. A genome that decodes itself, evils that are called, diseases that define themselves, treatments that develop... And then patients, relatives, scientists, doctors, or even philanthropists talking around the same table, animated by hopes, goals, energies that echo each other. But yes, there is cause for surprise when reading the various testimonies that make up this issue of the magazine of the Belgian Association of Marfan Syndrome, because what is happening today was perhaps not even imaginable a few decades earlier. But above all, there is reason to question the conditions of existence of projects such as 101 Marfan Genomes in the contemporary context of collective management of health and disease issues. From an anthropological perspective, this article proposes to reflect especially on the place and role played by the patients and relatives involved.
The mobilizations of patients and loved ones
The mobilizations of patients and loved ones against the diseases that affect them have a long history throughout the world. In the last century, groups formed around one or more health disorders with similar etiologies or symptoms have multiplied. Their main objectives were often mutual aid among members regarding aspects of the experience of daily life with a disease: pain management, emotional expression, or the exchange of tips and tricks for make care more appropriate for everyone's situation. Therefore, a whole "experiential knowledge" of diseases is forged within the self-help groups by including all the knowledge and know-how specific to those affected. Moreover, the possession of this form of knowledge tends to distinguish them significantly from other actors such as health professionals. But although many such groups have developed in the intimacy of the self until today, mobilizations of patients and relatives more action-oriented in the public sphere have emerged in parallel.
From experience to expertise
During the second half of the 20thTh century, the rise of the evidence-based paradigm and its applications in health systems management have widened the gap between some accredited experts and other actors who do not have equivalent power, occurrence of patients and loved ones[1]. They then increasingly claimed their legitimacy to get involved in the health and disease issues that concern them. For example, a few have set out to take part in the direction and conduct of scientific and medical research aimed at preventing, diagnosing and treating diseases. International pioneers include activists who have helped to map the outlines of a biomedical science of HIV/AIDS, with parents of children with myopathies having launched initiatives such as the Telethon for support teams of researchers, or the DEBRA network whose members were initially engaged in the training of professional caregivers specializing in bubble epidermolysis.
Redefining the power to act
As a result, the place and role of patients and loved ones in the public arena has gradually evolved. From an image of passive victims overwhelmed by the difficulties of daily life resulting from their illnesses, they have become actors in their matters of concern. Not only do they dare to open a dialogue with accredited experts, but they also appear capable of guiding, influencing, transforming the ways of thinking and acting. In addition to asserting themselves as the holders of an experiential knowledge of diseases forged in self-help groups, patients and mobilized relatives claim to have a mastery of knowledge on other aspects: research not only science and medical, public policy, legislative affairs, pharmaceutical markets, information and communication technologies, etc. In other words, in order to be entitled to the chapter, they claim to be experts among the experts. But how, in practice?
On the one hand, while public opinion proclaims theEmpowerment of these, it must be noted that in many cases their authorized participation in research does not exceed inclusion in study protocols and clinical trials. On the other hand, the feeling is common in this field of disinterest of health professionals on issues that are of crucial concern to patients and loved ones, as expressed by Romain Alderweireldt, the initiator of the 101 Marfan Genomes Project. , in his article published in this issue: " our destiny and that of our children is in our hands and if we do not fight for them and to help the doctors who are trying to treat them, no one will ». Spontaneous involvement in the management of health and disease issues therefore appears to be the most effective means of obtaining power to act. The strategies of action implemented by patients and loved ones are as diverse as their dynamics and effects. A comparative study of various initiatives related to scientific and medical research shows both their variation in substance and form in different contexts as a general trend: that of involvement by themselves patients and loved ones. In the particular case of rare (genetic) diseases, there are two reasons for this.
The genomics of patients and loved ones
For patients and loved ones, the challenge is to make health professionals aware of their lived experiences of the disease, to interest them in their case study and to stimulate their collaboration in a research project. This involves identifying a few multidisciplinary specialists who can advance the understanding of diseases and the development of therapies, and then socialize with them, informally at first, in order to stimulate new collaborations. In addition, the action strategies of the parents carrying the 101 Marfan Genomes Project, following other initiatives of national associations that have been engaged for years in support of research on this disease, are in the midst of the "geneisation" of science and society. They brought together collaborators with this in common that they conceive in their activities the mechanisms of disease onset and expression in the terms of genomics. And they themselves have been trained in this science in order to promote genomics that is also theirs, that is, that responds to their own concerns and expectations. In doing so, collaborators who speak the common language of the science of the human genome imagine together an "ethics of care" that pushes to (re)define their identities, places, roles and powers to act in the public sphere.[2].
The value of socializations
In the projects carried out by the Fondation 101 Génomes and, more generally, by many other patient and family associations wishing to get involved in the collective management of the subjects of concern to them, it is easy to think that the views of each employee will be able to express themselves effectively. And the enthusiasm that emerges from the testimonies of those of the Project 101 Marfan Genomes does not deny it. However, it remains to be seen how such action strategies could be more formally implemented, or even institutionalized, in order to be sustainable within the framework of health care systems. In Belgium as elsewhere, the obstacles are notable: lack of support for the voluntary work of active members of associations, insufficient financial subsidies, structural deficiency on the part of public institutions, persistence of technocratic in political decision-making processes, etc. But this article does not want to recall the problems that associative actors constantly denounce. From the perspective of all the testimonies of this issue of the journal of the Belgian Association of Marfan Syndrome, the message to remember is that of the value of constructive socializations in the imagination of the future of the genomics of patients and relatives. so that the successes achieved by some yesterday can be repeated today.
Fanny Duysens PhD student in Political and Social Sciences, Spiral Research Center, University of Cork.
[1] The term "evidence-based medicine" (Evidence-Based Medicine) refers to the use of evidence for clinical or political decision-making (e.g., on the effectiveness, safety or cost-effectiveness of treatments). These facts include randomized controlled trials or meta-analyses.
[2] This expression comes from an article written by a team of anthropologists: Heath, Deborah, Rayna Rapp, and Karen-Sue Taussig. Genetic citizenship. In A Companion to the Anthropology of Politics, edited by David Nugent and Joan Vincent, Wiley-Blackwell., 152-67. London, 2004.