A joint research team in China announced the development of a new technology based on artificial intelligence called "DeepRare," specially designed to speed up and customize the diagnosis of complex rare diseases.
According to a report published by the scientific journal "Nature", the new system has shown a remarkable superiority over the current global tools and human experts in the accuracy of identifying genetic and rare diseases.
Digital Superiority
The results of the study, which involved Shanghai Jiao Tong University in cooperation with Xinhua Hospital, demonstrated that the "DeepRare" technology achieved a diagnostic accuracy of 79.1% when combining clinical data with genetic screenings.
According to the Xinhua News Agency, this percentage significantly exceeds the performance of the global standard tool "Exomiser," which achieved a 53.3% accuracy rate in the same comparative tests.
Mechanism of Action of the "Intelligent Agent"
Technically, the researchers clarified in their scientific paper that the system relies on a framework called "Agentic AI." Unlike traditional systems, "DeepRare" simulates the logical thinking of doctors by:
- Formulating medical hypotheses based on a patient's symptoms.
- Independently searching through vast databases of genetic data and medical literature to verify the hypotheses.
- Providing a "traceable thought" report that explains the scientific reasons behind each diagnosis, thus solving the "black box" issue in artificial intelligence.
In related developments, the platform "Medical Xpress" reported Professor "Sun Kun," one of the project leaders, stating that the system proved to be highly efficient even in the absence of genetic data, where it recorded an accuracy of up to 57%, representing a lifeline for regions lacking advanced genetic sequencing technologies.
The research team concluded their report by announcing the establishment of the "Global Alliance for Artificial Intelligence in Diagnosing Rare Diseases," aiming to test the technology on more than 20,000 real clinical cases during the current year.
This move aims to reduce the "journey of suffering" for patients with rare conditions, who typically have to wait years before receiving an accurate diagnosis.
