Mobilizing artificial intelligence against the diagnostic wandering of rare diseases

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[EN VIDÉO] Interview: how was artificial intelligence born?
Artificial intelligence aims to mimic the functioning of the human brain, or at least its logic when it comes to making decisions. Jean-Claude Heudin, director of the research laboratory of the IIM (Internet and Multimedia Institute), explains the origin of this research.

AccelRare® uses artificial intelligence to accelerate the diagnostic in the primary care network for patients with a rare disease. Cross-presentation between Fabienne Ostermeyer, Managing Director of MedVirand Étienne Van der Elst, Digital Product Manager – Digital Innovation Sanofi.

Futura: Could you introduce accelRare in a few words?

Etienne Van der Elst: AccelRare is a pre-diagnosis solution dedicated to rare diseases to help city doctors confirm or rule out the possibility of a rare disease when faced with a patient presenting with symptoms atypical. It therefore offers physicians a questionnaire in a few minutes in the event of one or more suspicions of a rare disease, and if so, provides information for one of the suspected diseases referenced in the tool, but also communicates the coordinates of the expert centers closest to the patient if the doctor decides to refer the patient to confirm the diagnosis.

Futura: When will the solution be functional?

Etienne Van der Elst: This web solution will be available free of charge to general practitioners, initially in English and French. It will make it possible to pre-diagnose 270 rare diseases for which a treatment and/or appropriate care exists today. The solution is in the final stages of development and will be tested by expert centers to confirm its reliability and by city doctors to test its use. We hope to launch theapplication in France in 2023 and extend it throughout Europe and the world.

The accelRare® application supported by artificial intelligence will help city doctors identify a possible rare disease in a patient as quickly as possible.  © Elnur, Adobe Stock

Futura: How does this solution represent a real breakthrough for patients with rare diseases?

Etienne Van der Elst: In 2018, as part of the 3e National Rare Diseases Plan, Sanofi has brought together 40 players in theecosystem rare diseases, patients, associations, experts, to reduce diagnostic errors. We have identified 13 major problems and proposed 14 concrete solutions, AccelRare is one of them. You should know that today the average wandering time of a patient is three to four years between the presence of the first symptoms and the diagnosis. So you can imagine that this loss of time is a loss of opportunity for the patient… Especially since we have observed that 80% of the patient’s wandering time takes place in the primary care network, that is to say -say the doctors GPs, pediatricians and city specialists and that no tool was offered to help them confirm or exclude the possibility of a rare disease. This is precisely why Sanofi has chosen to develop AccelRare in partnership with MedVir.

Futura: MedVir offers medical decision support tools with artificial intelligence, why this technological choice?

Fabienne Ostermeyer: MedVir was created by emergency physicians and in particular by Doctor Loïc Étienne, who devoted 35 years of his life to research to find digital diagnostic aid tools. His work led him to a very original vision of AI: the Fuzzy Logic. In medicine, especially in the emergency room, a doctor spends his time dealing with uncertainty. The Fuzzy Logic, fuzzy logic, precisely helps to manage uncertainty with this ability to associate semantics with statistics. This is what is very original, because it allows not to forget any weak signal and to put in light the doubt that there may be a rare disease.

Futura: How did MedVir and Sanofi meet?

Fabienne Ostermeyer: When Sanofi came to see us, we were already offering a medical decision support tool with artificial intelligence about common diseases and emergency diseases. We had started thinking about extending it to rare diseases. It therefore made sense for us to show that the start-up and the AI ​​that we represent have value, that it is medically recognized and that it is capable of dealing with extremely complex subjects since a rare disease is a real novel, it is sometimes 50, 60 symptoms. For Sanofi, this solution will fill a very important point of their corporate mission on rare diseases and help people who are in diagnostic error.

Futura: Do you think that the potential of new technologies is sufficiently exploited to serve medicine?

Fabienne Ostermeyer: Today, there are an impressive number of absolutely fantastic technological solutions. What is missing is change management. In medicine, all lockswhether organisational, political or on training caregivers, are so many brakes to make him take a turn to adopt this tech which is at his feet, often carried out by doctors. We therefore have enormous expectations vis-à-vis Big Pharma but also the ARS, the Ministry of Health, Bpifrance and all the actors who will finance and highlight this necessary change management.

Etienne Van der Elst: Ideas explode and so for me it’s very positive. Today, we must therefore accelerate all that is public, private, start-up, large groups open innovation process and also to release the regulatory side because we put everything in the same basket, and it would be good to allow risk-taking, controlled, but risk-taking all the same for the benefit of patients and the healthcare network.

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