Rare diseases. How will new technologies support the diagnostic process?

Diagnosing rare diseases can take up to several years, which significantly affects the health and lives of patients. The new version of the free Saventic Care platform uses artificial intelligence to speed up the process and help patients get to the right specialists faster.

New technologies to combat the long road to diagnosis

There are around 8,000 rare diseases identified worldwide, which may affect up to 6–8% of the population. Diagnosing these conditions is a time-consuming process – it can take 5 to 7 years from the first symptoms to diagnosis. During this time, patients visit many doctors and undergo numerous tests, often without obtaining a clear answer. Delayed diagnosis is associated with a deterioration of health and limited possibilities of effective treatment. To facilitate this process, the Saventic Foundation has launched a new version of the free Saventic Care platform , which allows for the analysis of medical records in many languages ​​and is expanding its activities to other countries.

– Rapid diagnosis of the disease can radically improve the quality and length of a patient's life. Artificial intelligence is a huge support, but the role of doctors and access to appropriate tests remains key – emphasizes Prof. Michał Nowicki, expert at the Saventic Foundation .

The Saventic Care platform is a modern diagnostic tool based on artificial intelligence. Users can send their medical data and fill out a health questionnaire for free. The system analyzes the data with the support of an experienced team of doctors and, on this basis, directs patients to the appropriate specialists. Although technology supports the diagnostic process , it does not replace doctors.

– We treat each case individually – the data is assessed by both algorithms and medical specialists. If we suspect a rare disease , we refer the patient to the appropriate center – explains Szymon Piątkowski, president of the Saventic Foundation.

International reach and real help for patients

The platform has been used by over 3,000 people, and its website has had over half a million visits. Over the past year, over 300 patients have been referred for further diagnostics . The system currently operates in six languages: Polish, English, German, French, Portuguese and Spanish, which has extended support to patients from Europe and Latin America. Importantly, the analysis often detects other worrying symptoms that may require additional tests – even if they are not related to rare diseases .

Currently, the Platform supports the diagnostic process in patients with suspected diseases such as Fabry disease, Gaucher disease, HAE, primary immunodeficiencies , amyloidosis, Castleman's disease, mucopolysaccharidosis, PNH, hypophosphatasia, CTCL and LAL-D. This list is systematically expanding, and the foundation is establishing cooperation with other medical centers. The example of the new solution shows that the use of modern technologies in medicine can significantly shorten the waiting time for diagnosis and increase the availability of care for patients with rare diseases around the world.