Authors:Madeleine Akrich (MINES ParisTech)
Vololona Rabeharisoa (MINES ParisTech)
Florence Paterson (MINES ParisTech, CNRS, PSL)
Paper short abstract:
To what extent does presymptomatic diagnosis bring in changes to concerned people's understanding of the disease, their bodies, their everyday lives and their relations to their relatives? We will address this question in the context of a non treatable rare disease called CADASIL.
Paper long abstract:
Our communication is about presymptomatic diagnosis for a disease called CADASIL. CADASIL is a rare autosomic disease, which was identified in 1993: it manifests in multiple cerebral strokes causing progressive neurocerebral degeneration. To date, there is no available treatment, which questions the relevance and the legitimacy of pre-symptomatic diagnosis.
Drawing on a series of interviews with potentially concerned persons, and with some of their relatives, we will explore the following questions:
- To what extent is genetic information decisive in people's understanding of the disease and its implications on their lives?
- How do concerned people take into account genetic information in their approach to their bodies? Does it elicit them to adjust their dailylife routine?
- How does this information affect family relations? More specifically, how do people deal with the ethical dilemmas related to the disclosure of information?
- To what extent does genetic information affect the lives of family members?
We will confront our observations to a series of analytics proposed by social scientists, such as "patient-in-waiting", "asymptomatic ill", and we will discuss the notion of "biosocial forms of living" to describe and analyse the way people make sense of their situation.
Biosocial forms of living: imbricating technologies, social and medical knowledge