Plan France Médecine génomique 2025:
Implementation of pre-indications within the SENSGENE network
Genomic medicine is profoundly changing the way patients are cared for. To ensure that everyone has equal access to the new technologies of genomic medicine throughout the country, France is setting up a plan: the France Genomic Medicine 2025 Plan. It aims to change the way patients are diagnosed, prevented and treated by 2025.
A working group led by the French National Authority for Health (HAS) is in charge of prioritizing pre-indications for which patients will be able to benefit from genomic sequencing during their healthcare journey. These are diseases, or groups of diseases, for which the available data indicate that sequencing of the entire genome brings greater benefit to patients than the techniques routinely used in genetics laboratories.
In 2020, the working group selected 51 pre-indications for rare diseases, including 3 for SENSGENE :
- Syndromic and malformative deafness carried by Dr Sandrine Marlin
- Ocular malformations in children and adults carried by Pr Patrick Calvas and Pr Dominique Brémond-Gignac
- Hereditary retinal dystrophies of children and adults under 45 years of age carried by Pr Hélène Dollfus
Pre-indication pathway
Access to a molecular diagnosis by very high throughput sequencing of the entire genome will be available on request from a prescribing doctor referenced by the French rare diseases networks and after validation at a multidisciplinary consultation meeting (RCP).
Several very high throughput genome sequencing platforms cover all the needs of the national territory. These medical biology laboratories report on their analyses to prescribing physicians for their patients.
The pre-indications selected are intended to be evaluated by the HAS in order to issue an opinion with a view to reimbursement by the French health insurance system. Genome sequencing is too recent a technique to have sufficient data to carry out this evaluation today. Data enabling validation of the clinical efficacy and the clinical and medico-economic utility of these innovative procedures will therefore have to be collected for each pre-indication. The work of the France Genomic Medicine 2025 plan thus aims to validate the entry into a reimbursement process for the indication under study.
Le Plan France Médecine Génomique 2025 a réalisé une nouvelle page afin d’expliquer la médecine génomique appliquée aux maladies rares. Elle comporte des ressources variées (schémas, vidéos), et notamment un rappel de ce qu'est l’ADN, le génome et son séquençage, l’intérêt du séquençage dans le cadre des maladies rares, ainsi que les résultats possibles.
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