Chinese AI model surpasses doctors in diagnosing rare diseases
A Chinese research team has developed an AI model called 'DeepRare' that significantly outperforms human doctors in diagnosing rare diseases.
A joint research team in China announced the development of a new AI technology named 'DeepRare', designed specifically to accelerate and personalize the diagnosis of complex, rare diseases. According to a report published in the scientific journal 'Nature', this new system has demonstrated notable superiority over current global tools and human experts in accurately identifying genetic and rare diseases. The innovation aims to streamline diagnostics, making them faster and more efficient in a field often plagued by complications and lengthy processes.
The study, conducted in collaboration with Shanghai Jiao Tong University and Xinhua Hospital, revealed that the 'DeepRare' technology achieved a diagnostic accuracy of 79.1% when combining clinical data with genetic tests. This figure significantly surpasses that of the globally recognized tool 'Exomiser', which only attained an accuracy of 53.3% in comparative tests. Such advancements could revolutionize how rare diseases are diagnosed and treated, proving invaluable for patients who often face lengthy waits for accurate diagnosis.
Technically, the researchers explained that the system relies on an architecture known as 'Agentic AI'. Unlike traditional systems, 'DeepRare' simulates the logical reasoning of doctors, improving diagnostic processes. This development highlights the potential of artificial intelligence in healthcare, particularly in areas where expertise is scarce, ultimately aiming to bridge gaps in the diagnosis and management of rare conditions, thereby enhancing patient care across China and possibly beyond.