Genomic medicine is profoundly changing patient care. Routine genome sequencing will enable a high number of patients to benefit from more personalised diagnostics and personalised therapeutic care. This includes rare diseases and cancer but also more common diseases (e.g. metabolic, cardiovascular, neurological diseases).
A comprehensive approach for personalised medicine
Genomic medicine is profoundly changing patient care. Routine genome sequencing will enable a high number of patients to benefit from more personalised diagnostics and personalised therapeutic care. This includes rare diseases and cancer but also more common diseases (e.g. metabolic, cardiovascular, neurological diseases).
To ensure a fair access to genomic medicine to all patients, France is implementing a national plan: the “2025 France Genomic Medicine Initiative (PFMG2025)”, introducing precision medicine into the care pathway and developing a national framework.
Health care and science will be closely connected within the health care system to facilitate access to innovation for everyone. This will be achieved by linking research, economic models (in terms of e.g. expenditure by the health care system and development of new industrial infrastructure) and integration of scientific advances into health care.
The French initiative focuses on the patient and the physician. It is designed to introduce genome sequencing into the care pathway, starting with the prescription of genome analysis until the medical report.
“Precise genomic medicine represents a revolution in the fields of health care and prevention. It is fostering huge hopes — legitimately so — in people. It is changing how we define disease and how we help the sick.”
Yves Lévy, President of Aviesan (PFMG2025)
To achieve the PFMG2025 ambition of establishing the genomic medicine instruments required, and to respond and adapt to the increasing scope of the system with technological and regulatory changes, different working groups are installed for the operational implementation:
Network of high-throughput sequencing platforms:The first two platforms started in September 2019, covering together all patients in France; SeqOIA at Ile-de-France region and AURAGEN at Auvergne Rhône-Alpes region.
Several clinical standards for genomic diagnosis access have been validated by a working group led by the French National Authority for Health (HAS).
Central Analyser of Data (CAD): to implement tools necessary to process and exploit the considerable volume of genomic data, both within the clinical setting and for research use.
Four pilot research projects are implemented to overcome technological, clinical and regulatory obstacles encountered along the pathway. They focus on cancer (Multisarc trial); rare diseases (DEFIDIAG – cognitive impairment); common diseases (GLUCOGEN - diabetes); and on general population (POPGEN). The latter intends to list the common genetic variants present in the French population.
A Center of Reference, Innovation and Expertise (CRefIX) develops and harmonises best practices and standards. It also prepares future technological developments and innovations through academic and industrial collaborations, before ensuring their deployment in clinical practice.
The Training & Education task force is currently analysing the national needs to lay the groundwork for a multi- and inter-disciplinary genomic health system and to foster new skill sets to meet the specific challenges of both, data analysis and interpretation
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Genomic medicine is profoundly changing patient care. Routine genome sequencing will enable a high number of patients to benefit from more personalised diagnostics and personalised therapeutic care. This includes rare diseases and cancer but also more common diseases (e.g. metabolic, cardiovascular, neurological diseases).
