The pilot projects aim to set up an operational and effective care pathway. They allow obstacles to be detected and concrete solutions to them to be found. Pilot projects including sequencing are carried out among cohorts of specific patients.
The implementation of high-throughput genome sequencing in our country means being faced with a number of technological, scientific, clinical and regulatory challenges. The purpose of the pilot projects is to test the care pathway deployed, including the implementation of high-throughput sequencing. The secondary objectives of these studies will provide general information:
- Medico-economic in particular the financial and social impact for families. Social, with studies called SHS (Social and Human Science)
The important landmarks in the implementation of the pilot projects also involve the genome sequencing platforms, CRefIX and the data collector analyser (DCA).
The four “pilot” research projects address:
- cancer (MULTIPLI – soft-tissue sarcoma),
- rare diseases (DEFIDIAG – intellectual deficiency)
- common diseases (GLUCOGEN – diabetes),
- a general population study (POPGEN), intended to identify the genetic variants present in the French population. It will serve as an aid in the interpretation of the role of genetic variants identified in patients. POPGEN supports the Constances cohort.
The four pilot projects are operational. They associate specialist professionals of diverse backgrounds: clinicians, biologists, geneticians, bioinformaticians methodologists, health economists, personnel dedicated to research, etc.
All share the objective of making feasible high-throughput gene sequencing accessible to all, throughout the country.
OÙ EN EST-ON ?
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.
DEFIDIAG is a clinical trial in intellectual deficiency.
DEFIDIAG is a clinical trial in intellectual deficiency.
MULTISARC is a clinical trial of the MULTIPLI pilot project in advanced soft-tissue sarcomas.
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.
POPGEN is a clinical trial in the general population.
A scientific article is being published.
DEFIDIAG is a clinical trial in intellectual deficiency.
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.
MULTIPLI est un essai clinique sur le cancer.
DEFIDIAG is a clinical trial on intellectual disability.
GLUCOGEN is the diabetes clinical trial.
MULTIPLI is a clinical trial in oncology.