AI tool for advice on rare diseases

RWU Ravensburg-Weingarten University of Applied Sciences is participating in the development of an AI-based tool for online genetic counseling ("KI-OGB"). The tool is intended to help diagnose rare genetic diseases more quickly and efficiently and provide patients with better counseling.

Growing number of patients

Genetic diseases are rare diseases, but are estimated to affect a total of around 30 million people in Europe. Thanks to advances in medical research, new clinical pictures are being discovered at an ever faster rate. Today, around 6000 clinical pictures are already known. This is leading to an ever-increasing need for advice. This is time-consuming and resource-intensive. Medical practices are struggling with stagnating numbers of medical professionals. The time required for data collection, documentation and the preparation and follow-up of consultations is high. As a result, patients wait a very long time for appointments for advice and treatment of their illnesses.

Facilitating the consultation situation

Together with the Center for Laboratory Medicine St. Gallen and medicalvalues GmbH from Karlsruhe, RWU is working on the "KI-OGB" project. The AI-based tool is intended to make things easier for medical practices in the future by recording, structuring and processing patient data. It will also analyze medical correlations and make patient-specific diagnostic suggestions. Medical practices also receive support with documentation, processing results and preparing findings.

Professor Dr. Silvia Queri, Dean of Studies for Applied Psychology at RWU, is supporting the project. She supports the cooperation partners with her scientific expertise and prepares a communication psychology evaluation of the consultation. The use of telemedicine, i.e. the use of video consultations, is intended to enable location-independent and thus faster advice for those affected.

Funding and network support

The project is being funded for three years with 500,000 euros by the Interreg Alpenrhein-Bodensee-Hochrhein. The three cooperation partners were brought together and advised by the BioLAGO health network. The project is part of the "Smart Health Region 2025" initiative, which aims to improve healthcare and care through digitalization and AI.