Automating medical diagnosis? The Genomics of Rare Diseases in France
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Abstract
In this presentation, I will share the preliminary findings of an ongoing study examining the partial automation of rare disease genomics diagnoses. This automation project is part of a multi-year government plan (Plan France Médecine Génomique 2025) that has set up two public platforms for whole genome analysis across the country. Each platform has an in-house genome interpretation tool — an expert system that aims to automate the simplest cases by proposing a shortlist of genetic variants likely to lead to a diagnosis. Together with colleagues from the project), I am investigating how this tool is designed and used within a clinical genetics department. I will explain how the software is integrated into the department's activities and organisation, emphasising collective learning and the transformation of professional expertise and roles. I will show that the automation process is incomplete in many respects. Firstly, clinical expertise remains crucial, even in cases deemed 'simple'. Secondly, the way the software operates conflicts with the data mining craft practice favoured by some practitioners. Finally, the implementation of the software aims to make genomics a routine part of the work of French public hospitals, significantly increasing the number of genomes sequenced daily. This involves making contentious changes to practitioners' relationship with their diagnostic practices.
Bio
Séverine Louvel is a professor of sociology at Sciences Po Grenoble – Université Grenoble Alpes and a researcher at the Pacte research centre. From 2019 to 2024, she was a junior member of the Institut Universitaire de France.
Her research lies at the intersection of science and technology studies and the sociology of health. She is currently conducting research into the impact of digitisation on professional work in two areas: the study of interdisciplinary work driven by the datafication of public health research ; the study of algorithms for medical diagnosis in genomics, as part of the TraGenInnov project (Trajectories of Genomic Innovations in Healthcare Contexts), which is funded by the French National Research Agency.
Her recent publications include:
‘A medical profession towards empowerment? The uncertain future of digitalisation in private general practice” Marie Ghis Malfilatre and Séverine Louvel (Social Science & Medicine, 2024, 365, 29 p.). Social Science & Medicine, 2024, 365, 29 pp.
'Editorial: Personalised health and precision medicine in practice: introduction to a special issue’, Luca Chiapperino, Sylvain Besle, Séverine Louvel and Francesco Panese, Frontiers in Sociology, 2024, 9, p. 1367791. Frontiers in Sociology, 2024, 9, pp. 1367791.