BFMTV INFO. New centers, diagnosis... The 4th national plan against rare diseases unveiled

It is the "fruit of a broad consultation with patient associations, health professionals, researchers and manufacturers". The government unveiled this Tuesday, February 25, its 4th national rare diseases plan, intended to promote diagnosis, support the care and life journey of patients but also encourage innovation.

"More than 7,000 rare diseases have been identified and affect more than 3 million people in France," the press release emphasizes, "the diseases concern more people than we think."

A plan with a budget of 223.5 million euros per year and which has several objectives, in particular the improvement of the life and care pathway, "in particular during key periods such as the announcement of the diagnosis, the child/adult transition, pregnancy, aging", explains the Minister of Labor and Health Catherine Vautrin.

First axis of this new government plan: "supporting the care and life journey of patients with rare diseases and their caregivers", through improving access to care, coordination between hospital structures and community care or even optimizing the health journey of patients.

This also involves the labelling of 132 new rare disease reference centres, an increase of 28%, for a total of more than 600 expert centres. In addition, the Ministry of Labour, Health, Solidarity and Families has announced that it will release an envelope of nearly 36 million euros in new credits for these centres.

Second objective of this plan: to improve diagnosis, in particular by reducing the average time - currently five years - to obtain one.

"The sooner and more quickly a rare disease is detected, the better the care and the more effective the treatment," stresses the Minister for Health and Access to Healthcare, Yannick Neuder.

Detection that would involve neonatal screening, extended to three new pathologies this year, but also through genomic sequencing tools or other innovations such as fetopathology and antenatal screening.

Third axis of the plan: structuring therapeutic research, encouraging the repositioning of existing drugs and organizing the collection of real-life data to better evaluate the effectiveness of treatments. It also provides for "the strengthening of biobanks, the optimization of information systems and the development of artificial intelligence to better exploit data".

Finally, the minister advocates a European plan for rare diseases to improve diagnosis and treatment for the benefit of all French and European patients.

"France is positioning itself as a leader in this public health policy at the European level," explains Catherine Vautrin, "with this 4th plan, we continue to act tirelessly so that each patient, each family, can benefit from a rapid diagnosis, appropriate care and access to treatment."