Validation of 48 new preindications relating to access genome sequencing
WHERE ARE WE?
The organisation of care is being put in place at the beginning of 2020.
The 13 first-line pre-indications validated by the Operating Committee correspond to clinical indications positively evaluated by the british National Health Service (NHS).
DEFIDIAG is a clinical trial in intellectual deficiency. The regulatory approvals of the French National Agency for Medicines and Health Products Safety (ANSM) and the French Data Protection Authority (CNIL) and the favourable opinion of the Institutional Review Board (CPP) have been obtained.
MULTISARC is a clinical trial of the MULTIPLI pilot project in advanced soft-tissue sarcomas.
Choice of sequence technologies, definition of storage and calculation architecture which will be deployed (shared memory calculator, computing cluster…), software specification (purchase of licences, software compliance) .
MULTIPLI is a clinical trial in cancer. The regulatory approvals of the French National Agency for Medicines and Health Products Safety (ANSM) and the French Data Protection Authority (CNIL) and the favourable opinion of the Institutional Review Board (CPP) have been obtained.
In June 2019, information notices and consent forms – in their various forms: rare diseases, cancer; adults, minors, protected persons– were made available to the genomic platforms of the plan to be used during interviews with the first patients.
These documents were created as “draft” versions:
- Obtaining consent in genetics is organised primarily by regulation in line with the law on bioethics. Currently under examination by Parliament, it will be necessary to modify the information notices and consent forms created, once the new law has been voted in 2020.
- To ensure that these documents are fully operational and adapted to the health care setting, a consultation with professionals and patients is foreseen in the first half of 2020. Feedback will be taken into account for the new version of the documents.
POPGEN is a clinical trial in the general population.
A scientific article is being published.
Validation of 12 pre-indications and identification of pre-indications to be examined by the French National Authority for Health (HAS), in connection with CRefIX reference centre and sequencing platforms.
CRefiX is a joint services unit made up of Inserm, CEA and Inria. Jean-François Deleuze (National Genotyping Centre at the CEA) is its director. Alain Viari (Inria) is the deputy director.
This agreement will enable the two parties to develop a normative framework which will ensure that both countries adopt the new technologies appropriately while advancing at an optimal pace;
In collaboration with the National Human Genome Research Centre (CNRGH), CRefIX is in charge of the sequencing and primary bioinformatics analysis of these projects.
MULTIPLI est un essai clinique sur le cancer. Un article scientifique est en cours de publication.
MULTIPLI is a cancer clinical trial.
The public-private partnership resulted from a selection of pharmaceutical companies.
The first task addressed by the working group was to provide professionals with operational documents in an ethical manner, necessary to start the first sequencing.
Indeed, two types of documents must be submitted to patients by the medical specialist before any diagnosis in the framework of the plan:
- The information notice provides, in written and accessible form, the scientific, technical, regulatory information required for the best possible understanding of the test proposed to the patient. This document is designed to accompany the patient in his/her care and should be proposed as early as possible. The physician is also available to the patient to answer any further questions.
- The consent form is signed by the patient during the consultation that precedes genetic sampling and analysis. It shows the patient’s choices in relation to a number of options subsequent to the tests, regarding amongst others information for family members (relatives) in the event of a positive result, or making the patient’s genetic data (anonymised) available for research.
The broad composition of the working group responsible for the creation of these two types of documents made it possible to take into account all the subjects identified.
The working group also sought support from the output from many forums.
The Parliamentary office for evaluating scientific and technological choices (OPESCT), professional and learned societies in genetics at national, European and international level, as well as the framework of several European projects made it possible to lay solid foundations for reflection.
The “Ethics, regulation and society” working group is led by:
- the Directorate-General for Health under the aegis of Arnaud de Guerra (DGS),
- Aviesan, with Anne Cambon-Thomsen, director of research director, CNRS, member of the European Group on Ethics in Science and New Technologies, and Christine Lemaitre, representative of the Ethics Committee, Inserm.
This group includes the various players concerned (lawyers, ministers, agencies, patient associations, health professional representatives, researchers and platform). The group works on different aspects: information and consent, data protection, and the societal dimension.
ICPerMed was launched at workshops organised by the European Commission.
It includes non-profit public and private bodies for funding health research and the setting up of public policies. ICPerMed wants to contribute to the implementation of personalised medicine for the benefit of patients, citizens and society as a whole and to facilitate the coordination of research and financing activities, first at European level then at international level. The FPGM 2025 takes part in working groups dedicated to “health economics, regulation and market access” aspects and “data and information and communication technology”;