Skip to Main content Skip to Navigation
Master Thesis

Étude sur le degré d’incertitude de la médecine génomique dans le Plan France Médecine Génomique 2025 : découvertes incidentes, découvertes secondaires, variants de signification inconnue et confidentialité des données

Abstract : Genomic medicine is an emerging branch within medicine. In Europe, several countries such as The United Kingdom, Estonia, The Netherlands and Slovenia have begun to integrate Next Generation Sequencing (NGS) into clinical practice. In 2015, France announced the Plan France Médecine Génomique 2025 which aims to integrate, within a period of ten years, genomic medicine into the French healthcare system. This plan seeks to establish routine sequencing of the Whole Genome (WGS) or part of the genome (WES) in clinical practice, involving patients with rare diseases, oncology and common diseases. Currently in France the WGS and WES are not routinely done in clinics, the examinations that are carried out are mainly targeted at a specific gene or a panel of concrete genes. The main goal of the PFMG is to carry out genome and whole exome sequencing tests with NGS techniques where the possibility of making incidental findings, secondary findings and variants of uncertain significance will increase. In addition, a large amount of genetic data will be generated, and because of their intrinsic ability to re-identify, it might be difficult to ensure the confidentiality of these data. Until now there has been no consensus and guidance on how to handle these issues in France and worldwide. The research carried out during this MA is an exploratory work whose objective is to know how these questions begin to be thought and managed in the PFMG. An exploratory qualitative research was conducted between February and April 2019 with semi-directed interviews with some experts in the field of genomic medicine in France who are related to the PFMG and who will participate in the discussion of the management of these issues. In order to consider different perspectives, experts of different professional profiles were interviewed; a doctor, a medical biologist, a genetic consultant, a psychologist and the head of a patients association. The different answers of the professionals who participated in the study were analysed and a common speech was elaborated specifying the points of convergence and divergence that were found. This sample of interviews made it possible to describe that incidental findings, secondary findings, variants of uncertain significance, and confidentiality of data are issues involved in genomic medicine and that this will lead actors to face new situations and problems; that today there is no consensus among different professionals on how to deal with these issues; and that there is currently an incompatibility of the implementation of the PFMG with French law. The number of interviews conducted is insufficient to generalise these results. It would have been interesting to interview more professionals from each profile in order to observe the convergences and divergences in the answers given by professionals of the same sector and thus be able to obtain new data and a closer vision to reality.
Document type :
Master Thesis
Complete list of metadata

https://dumas.ccsd.cnrs.fr/dumas-02515283
Contributor : Bu Sciences Upd5 Connect in order to contact the contributor
Submitted on : Tuesday, December 1, 2020 - 3:02:55 PM
Last modification on : Thursday, March 25, 2021 - 5:50:02 PM
Long-term archiving on: : Tuesday, March 2, 2021 - 6:02:56 PM

File

M2Ethique_VALLES_POCH_Mar_DUMA...
Files produced by the author(s)

Licence


Distributed under a Creative Commons Attribution - NonCommercial - NoDerivatives 4.0 International License

Identifiers

  • HAL Id : dumas-02515283, version 1

Citation

Mar Vallès Poch. Étude sur le degré d’incertitude de la médecine génomique dans le Plan France Médecine Génomique 2025 : découvertes incidentes, découvertes secondaires, variants de signification inconnue et confidentialité des données. Ethique. 2019. ⟨dumas-02515283⟩

Share

Metrics

Record views

67

Files downloads

155