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Reducing the delay between the first symptoms and the diagnosis: this is the main challenge facing rare diseases. This is why Sanofi Genzyme is committed to France in a collective approach bringing together 23 players to find innovative solutions. Explanations.
"A disease is said to be rare when it affects less than one in 2,000 people, most often a few tens or even tens of thousands of patients, but no more than 30,000 for a given disease," says Inserm. . Three million French people are affected by one of the 7,000 rare diseases counted. In total, 25% of patients suffering from these conditions are forced to wait 4 years or more for certain diseases, before being offered diagnostic research. The same proportion of patients said they had consulted at least five doctors before the diagnosis. This situation is all the more prejudicial as there are treatments and care adapted for some of them. How to explain this situation ? "There are many reasons," explains Professor Eric Hachulla1, coordinator of the reference center for rare diseases in Lille. "There are more than 7,000 rare diseases, so it is impossible in primary care for a general practitioner to know how to recognize a rare disease. The other reason for diagnostic wandering is the indolent or insignificant nature of symptoms in the early stages of the disease. It can be pain, fatigue, for example. These are symptoms that may seem trivial and benign. That's why for many months, many years, the family doctor does not pay much attention to it. The third cause of delayed diagnosis is that many doctors do not know where to refer the patient.
Digital versus rare diseases?
Faced with this situation Sanofi Genzyme, very invested in the fight against rare diseases, wanted to take an initiative. The laboratory brought together 23 French players in a collective approach to develop new solutions related to digital technologies. Patient badociations, the National Research Institute dedicated to digital technology, doctors specializing in rare diseases, start-ups will share their expertise. For Professor Hachulla, "helping diagnose rare diseases with digital support is a great idea. It's a smart way to help reduce this diagnostic wander. The idea of Sanofi Genzyme to offer a kind of digital single window bringing together all the known data on rare diseases, all the reference centers, all the diagnostic badistance tools, will undoubtedly help ». Note that the 3 e National Plan Rare Diseases (2018-2022), announced in February by the government, should be presented shortly. It is eagerly awaited by all the actors mobilized against rare diseases to improve the care of patients. "It should be made public by the end of July," says Pr Hachulla. "As part of this future plan, the proposals of Sanofi Genzyme could be integrated because since the first plans, the focus has been on helping diagnosis."
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