Request for expert opinion on genomic RCP
The France Genomic Medicine 2025 Plan, launched in 2016 by the Prime Minister and supported by AVIESAN, aims to integrate genomic medicine into the healthcare system. It should enable a large number of patients to benefit, thanks to the routine sequencing of their genome, from more personalized diagnostic and therapeutic care.
Pre-indications for whole genome sequencing in the MaRIH network:
Since 2020, the immuno hematological rare diseases health sector has included 4 pre-indications for whole genome analysis. You will find below the links to these pre-indications, with the inclusion criteria:
Pre-indication Hereditary immune deficiencies in adults and children
Pre-indication Severe chronic neutropenia with and without co-morbidities
Pre-indication Medullary aplasias and hypoplasias
Pre-indication Histiocytosis without BRAFV600E mutations
Each request for pre-indication will be studied in RCP by the reference center concerned. If the SPC validates the pre-indication, the requesting physician can make an e-prescription on one of the two sequencing platforms:
– on the SPICE tool for the Nord SeqOIA platform
– on the HYGEN tool for the Sud Auragen platform
Find all of the rare disease pre-indications for access to genomic diagnosis on the PFMG 2025 website.Introduction to the France Genomic Medicine Plan 2025 (PFMG 2025):
The France Genomic Medicine 2025 Plan, launched in 2016 by the Prime Minister and supported by AVIESAN, aims to integrate genomic medicine into the healthcare system. It should enable a large number of patients to benefit, thanks to the routine sequencing of their genome, from more personalized diagnostic and therapeutic care.
Pre-indications for whole genome sequencing in the MaRIH network:
Since 2020, the immuno hematological rare diseases health sector has included 4 pre-indications for whole genome analysis. You will find below the links to these pre-indications, with the inclusion criteria:
Pre-indication Hereditary immune deficiencies in adults and children
Pre-indication Severe chronic neutropenia with and without co-morbidities
Pre-indication Medullary aplasias and hypoplasias
Pre-indication Histiocytosis without BRAFV600E mutations
Each request for pre-indication will be studied in RCP by the reference center concerned. If the SPC validates the pre-indication, the requesting physician can make an e-prescription on one of the two sequencing platforms:
– on the SPICE tool for the Nord SeqOIA platform
– on the HYGEN tool for the Sud Auragen platform
Find all of the rare disease pre-indications for access to genomic diagnosis on the PFMG 2025 website.