So-called “rare” diseases actually affect more than three million people in France according to the government, or 4.5% of the population. But if a rare disease affects less than one person in 2,000, there are however more than 6,000 rare diseases identified by the scientific community, with an average of between 250 and 280 new diseases discovered per year. Patients suffering from a rare disease in particular are therefore…rare.
The main challenge in detecting them? Fight against diagnostic wandering, the period during which a patient waits for a relevant diagnosis of his disease. In other words, giving all the necessary tools to local doctors to help them recognize the development of a rare disease in their patient. The earlier the diagnosis, the more effective the treatment will be. And in recent years, artificial intelligence seems to be at the heart of all innovations in the treatment of rare diseases. From imaging (MRI) to the processing of health and real-life data, how could artificial intelligence revolutionize the treatment of rare diseases?
The third National Plan for Rare Diseases aims precisely to accelerate diagnosis and increase its accuracy. Here is the objective targeted by the State from 2018 for the year 2022: Obtain a diagnosis for patients within one year and a maximum of one year after the first specialized medical consultation. The only patients without a precise diagnosis at the latest one year after the first consultation with a specialist are limited to those for whom the state of the scientific and technical art does not allow a precise diagnosis to be reached (diagnostic impasse) “.
In reality, there is still a long way to go to achieve such a result, as Catherine Kerting reminds us, Rare Conditions Partner at Roche: For a quarter of patients, the diagnostic delay exceeds five years. A long time that can lead to psychological damage and permanent disabilities in patients. Especially since therapeutic wandering complicates the problem. Indeed, 95% of rare diseases have no specific treatment and when they do have treatment, they are not necessarily diagnosed in time. The consequences of diagnostic error and therapeutic error are closely linked. »
The holistic approach to the care pathway, quesako?
For healthcare players involved in research and development of solutions to move the lines in rare diseases, innovation must first go through a global approach to care pathways. What does that mean? “At Roche, we develop solutions that impact the entire patient journey, from diagnosis to therapeutic care and real-life support. Since the management of rare diseases is most often multidisciplinary, we are also rethinking our interactions in an agile way with all stakeholders, including patients. This approach is very important because it allows us to listen to the needs as closely as possible to the experience to create value and impact on a daily basis for patients and caregivers. “, explains Catherine Kerting. The first step is to identify all the stakeholders: geneticist, doctor, nurse, psychologist, medico-social support, pharmacist, researcher, public institutions and patient associations. It is then their operation and their interactions that are studied, in an attempt to streamline the patient care pathway and optimize the results.
What place for artificial intelligence?
But with rare diseases, it is also the sustainability of the healthcare system that is at stake.” The health system is already overloaded, knowing that the diagnosis and treatment of rare diseases are more expensive and more technically complex. The collection of certain data, the identification of patients who can benefit from innovations, are in fact problematic. Thus, anything that can enhance our understanding and effectiveness in managing these diseases is welcome. With this in mind, our holistic approach consists, for example, in helping the health system to identify and help integrate technological innovations that can unlock the key points of the care pathway while continuing therapeutic and diagnostic research. “, explains Rémy Choquet, director of the medical data center of Roche.
Artificial intelligence, through new approaches to machine learning or of deep learning, can accelerate our knowledge of rare diseases, the identification of patients and sometimes even contribute to the diagnosis or the individual follow-up of patients. ” Our development activities in the clinical or post-clinical phase generate a large amount of data. We then make this data available to innovators who wish to develop new applications, for example AI, to accelerate the identification of certain diseases using medical imaging, to monitor the evolution of certain diseases or better predict response to treatment “says Rémy Choquet.
All types of rare diseases are targeted: neuromuscular diseases such as Duchenne’s disease, neurodegenerative diseases such as Huntington’s disease, respiratory diseases such as idiopathic pulmonary fibrosis or blood diseases such as haemophilia. ” For this, we rely on the know-how we have acquired in oncology. We adapt the development of treatments to the knowledge we have of the different pathologies. Different approaches are explored: small molecules, gene therapy or cell therapy for example », Analyzes Catherine Kerting. In this context, artificial intelligence increases the value and impact of innovation, it also allows the development of new solutions through automated data analysis.
A European context favorable to research
Rare diseases do not only concern the networks of French researchers. Europe is particularly interested in the problem. ” Over the past twenty years, we have seen a European awareness, an ambition to advance innovation at all levels: from support by health professionals in the field to funding research and the development of new health technologies for rare diseases “, notes Rémy Choquet.
While 30 million Europeans are affected by rare diseases, the European Union convened, on February 28, 2022, the health ministers of the member countries to intensify international cooperation. She promises, improve health and living conditions ” patients. The program EU4Health 2022 thus provides 26 million euros to enable the ERNs (European Reference Networks) to develop their activities. All the lights now seem to be green to allow players to fight effectively against rare diseases, responsible, in particular, for 10% of deaths of children aged 1 to 5 years.
Maddyness, media partner of Roche.
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Rare diseases: can artificial intelligence be a game-changer?
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