Can artificial intelligence be a game-changer?

The 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 in 2,000 people, there are more than 6,000 rare diseases identified by the scientific community, with an average of 250 to 280 new diseases being discovered each year. Patients with a rare disease in particular are therefore rare.

What is the main challenge to identify them? Fight against diagnostic wandering, during which a patient waits for a relevant diagnosis of his disease. In other words, to provide local physicians with all the tools they need to help their patients detect the development of a rare disease. The sooner the diagnosis is made, the more effective the treatment will be. And in recent years, artificial intelligence seems to be at the center of all innovations in the treatment of rare diseases. From imaging (MRI) to health and real-life data processing, how can artificial intelligence revolutionize the treatment of rare diseases?

Accelerate the diagnosis

Third National plan for rare diseases The specific goal is to speed up the diagnosis and increase its accuracy. Here are the state targets for 2018 from 2022: Diagnose patients within one year and within a maximum of one year after the first specialized medical consultation. In the last one year after the first consultation with a specialist, only patients without specific diagnosis are confined to those for whom the state of the scientific and technological industry does not allow a definitive diagnosis (diagnostic stagnation).

In fact, there is still a long way to go to achieve such results, as Catherine Karting reminds us, Rare condition companion At Roche: For a quarter of patients, diagnostic delays exceed five years. A long time which can lead to emotional loss and permanent disability in patients. Especially since therapeutic circulation complicates the problem. In fact, 95% of rare diseases have no specific treatment and when they are treated, they are not diagnosed in time. The consequences of diagnostic errors and therapeutic errors are closely linked. A

Overall approach to care pathway, quesako?

For healthcare players involved in research and development of solutions to remove the rare disease lines, innovation must first go through a global approach to the path of care. What does that mean? “At Roche, we create solutions that impact the patient’s entire journey, from diagnosis to therapeutic care and real-life support. Since rare disease management is often multi-faceted, we are reconsidering our interaction with all stakeholders, including patients. This approach is extremely important because it allows patients and caregivers to listen as closely as possible to the needs of experience creating value and impact on a daily basis. The first step is to identify all stakeholders: geneticists, doctors, nurses, psychologists, medico-social support, pharmacists, researchers, public organizations and patient associations. Then their operations and their interactions are studied, patient care. In an effort to streamline the path and optimize the results.

Where is the place for artificial intelligence?

However, with rare diseases, the sustainability of the healthcare system is also at risk. ” The health system is already overloaded, knowing that the diagnosis and treatment of rare diseases is more expensive and technically more complex. Collecting specific data, identifying patients who may benefit from innovation, is actually problematic. Thus, we welcome anything that can enhance our understanding and effectiveness in managing these diseases. With this in mind, our overall approach includes, for example, helping the healthcare system identify and integrate technological innovations that may unlock key points of the care path while continuing treatment and diagnostic research. Remy Choquette, director of the Roche Medical Data Center.

Artificial intelligence, through new methods Machine learning Or of Acquiring deep knowledge, Can accelerate our knowledge of rare diseases, identify patients and sometimes even contribute to the diagnosis or individual follow-up of patients. ” Our development activities at the clinical or post-clinical level generate a lot of data. We then provide this data to developers who want to develop new applications, for example AI, using medical imaging to accelerate the detection of specific diseases, to monitor the evolution of specific diseases or to better predict treatment responses. “Remy Chocolate said.

Rare diseases of all kinds have been observed: neurological diseases such as Duchenne disease, neurodegenerative diseases such as Huntington’s disease, respiratory diseases such as idiopathic pulmonary fibrosis or blood diseases such as hemophilia. ” For this, we rely on the knowledge we have acquired in oncology. We adapt the development of treatment to the knowledge we have about different pathologies. Different approaches have been explored: small molecule, gene therapy or cell therapy for example 6, Catherine Karting analyzes. In this context, artificial intelligence enhances the quality and impact of innovation, allowing the development of new solutions through automated data analysis.

A European context conducive to research

Rare diseases do not only concern the network of French researchers. Europe is particularly interested in this issue. ” Over the past twenty years, we have seen a European awareness, an ambition to advance innovation at all levels: from supporting health professionals in the field to funding research and developing new health technologies for rare diseases. Remy notes.

Although 30 million Europeans suffer from rare diseases, The European Union called on the health ministers of member countries on February 28, 2022 To strengthen international cooperation. He promises, Improving health and living conditions “Patients. Activities EU4Health 2022 It thus provided 26 million euros to enable ERNs (European Reference Networks) to develop their activities. All the lights now seem to be green, in particular, responsible for allowing players to effectively fight rare diseases 10% of deaths in children aged 1 to 5 years.

Madness, Roche’s media partner.

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