iPavlov: System for detecting genetic diseases by medical records

2022: System Creation

At the end of December 2022, iPavlov (created by MIPT employees) announced a computer system for screening electronic medical records (EMR) in order to identify rare genetic (orphan) diseases. The solution is designed for children under seven years of age and allows you to identify patients from risk groups.

The program is able to analyze data from EMR and identify patients from risk groups so that the doctor can then refer them for a specific additional examination. By the end of 2022, the platform can diagnose only four diseases, but the creators plan to use their invention to search for all known orphan ailments, the number of which is measured in hundreds.

Sophisticated intelligence will help identify orphan diseases

Our program is a system for supporting medical decision-making. As a result of the analysis of electronic medical records, she gives the doctor a list of patients with suspected disease and gives recommendations for additional diagnosis to confirm the disease. So far, she knows how to recognize four ailments: mucopolysaccharidosis, Fabri, Pompe and Niemann-Peak diseases, - Roman Biryukov, head of the company's project office, told Izvestia.

By the end of December 2022, she studied about 800 thousand medical records and discovered more than a hundred potential patients. Doctors check the data obtained. In the future, such monitoring of genetic deviations, according to the developers of the program, in theory, medical records of all patients in the Russian Federation can take place.

According to Andrei Prodeus, the chief freelance pediatric allergist-immunologist of the Ministry of Health of the Moscow Region, previously not a single patient from the group of orphan diseases was found using an analysis of the medical history. There are no existing similar systems in the world. Basically, foreign specialists do not go further than publishing scientific articles in specialized journals.^[1]

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