The 101 Genomes Foundation’s projects are by no means trivial. A genome that can be decoded, ailments that can be named, diseases that can be defined, treatments that can be developed… And then patients, relatives, scientists, doctors and philanthropists sitting around the same table, animated by hopes, goals and energies that echo one another. But yes, there is much to be astonished by when reading the various testimonials that make up this issue of the Belgian Marfan Syndrome Association magazine, 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 looks specifically at the place and role played by the patients and relatives involved.

Mobilizing patients and their families

The mobilization of patients and their families against the diseases that affect them has a long history throughout the world. In the last century, groups formed around one or more health disorders with similar etiologies or symptoms have proliferated. Their main objectives were often to help each other with aspects of the daily experience of living with an illness : pain management, emotional expression, or exchanging tips and tricks to make care more adapted to each person’s situation. As a result, a whole ” experiential knowledge ” of illnesses is forged within self-help groups, 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 players such as healthcare professionals. But although many such groups have developed in the intimacy of the “entre-soi” until now, mobilizations of patients and relatives more oriented towards action in the public sphere have emerged in parallel.

From experience to expertise

In the second half of the 20th century^ème century, the rise of the evidence-based medicine paradigm and its application to the management of healthcare systems have widened the gap between certain accredited experts and other players who do not enjoy equivalent power, in this case patients and their families.[1]. As a result, they have increasingly asserted their right to get involved in the health and illness issues that concern them. For example, some have set themselves the goal of taking part in the orientation and conduct of scientific and medical research aimed at preventing, diagnosing and treating disease. International pioneers include the activists who helped shape the biomedical science of HIV-AIDS, the parents of children with muscular dystrophy who launched initiatives such as the Telethon to support research teams, and the DEBRA network whose members were initially involved in training professional caregivers specializing in epidermolysis bullosa.

Redefining the power to act

As a result, the place and role of patients and their families in the public arena have gradually evolved. From being passive victims burdened by the difficulties of daily life resulting from their illnesses, they have become actors in their own areas of concern. Not only do they dare to enter into dialogue with accredited experts, they also appear capable of guiding, influencing and transforming ways of thinking and acting. In addition to the experiential knowledge of illnesses acquired in self-help groups, patients and their families also claim to have knowledge of other aspects of the disease. These include not only scientific and medical research, but also public policy, legislative affairs, pharmaceutical markets, information and communication technologies, and so on. In other words, to have their say, they claim to be experts among experts. But how, in concrete terms ?

On the one hand, while public opinion proclaims theirempowerment, in many cases their authorized participation in research does not go beyond inclusion in study protocols and clinical trials. On the other hand, there is a widespread feeling in this field that healthcare professionals are losing interest in issues that are of crucial concern to patients and their families, as expressed by Romain Alderweireldt, the initiator of the 101 Marfan Genomes Project, in his article published in this issue : ” our fate and that of our children is in our hands, and if we don’t fight for them and help the doctors who are trying to treat them, no onewill   “. Spontaneous involvement in the management of health and illness issues thus appears to be the most effective way of gaining power to act, and the action strategies implemented by patients and their families are as diverse as their dynamics and effects. A comparative study of various initiatives in the field of scientific and medical research shows that they vary in form and content depending on the context, but that there is a general trend : that of patients and their families becoming involved themselves. As for the specific case of rare (genetic) diseases, there seem to be two reasons for this.

Genomics for patients and their families

For patients and their families, the challenge is to make healthcare professionals aware of their real-life experiences of the disease, to interest them in their case study and to stimulate their collaboration in a research project. To do this, we need to identify a few multi-disciplinary specialists likely to advance our understanding of diseases and the development of therapies, and then to socialize with them, informally at first, in order to stimulate unprecedented collaborations. What’s more, the action strategies of the parents behind the 101 Genomes Marfan Project, following in the footsteps of other initiatives by national associations committed to supporting research into this disease for years, are fully in line with the contemporary context of ” genetization ” of science and society. They have brought together collaborators who have in common the fact that their work focuses on the mechanisms of disease onset and expression in genomic terms. And they have trained themselves in this science in order to promote genomics that is also theirs, i.e. that responds to their own concerns and expectations. In so doing, collaborators who speak the common language of human genome science together imagine a ” ethic of care ” that pushes them to (re)define their identities, their places, their roles and their powers to act in the public sphere[2].

The value of socialization

In the projects led by the 101 Genomes Foundation and, more generally, by many other patient and family associations wishing to get involved in the collective management of matters of concern to them, it’s easy to think that each employee’s point of view will be able to express itself effectively. And the enthusiasm that emanates from the testimonials of those involved in the 101 Marfan Genomes Project is no exception. However, it remains to be seen how such action strategies could be more formally implemented, or even institutionalized, to be sustained within healthcare systems. In Belgium, as elsewhere, the obstacles are considerable: lack of support for the voluntary work of active association members, inadequate financial subsidies, structural deficiencies on the part of public institutions, the persistence of an ambient technocracy in political decision-making processes, and so on. But this article is not intended as a reminder of the problems that associative players are constantly denouncing. From the point of view of all the testimonials in this issue of the Belgian Marfan Syndrome Association magazine, the message to take away is the value of constructive socialization in imagining the genomic futures of patients and relatives, so that the successes achieved by some yesterday can be repeated today.

Mrs. Fanny Duysens Doctoral student in Political and Social Sciences, Spiral Research Center, University of Liège.

[1 ] The term Evidence-BasedMedicine refers to the use of evidence to make clinical or policy decisions (for example, on the efficacy, safety or cost-effectiveness of treatments). These facts come from randomized controlled trials and 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.