European Regional Development Fund awards grants

The ABH region faces major challenges if it is to continue to provide high-quality, comprehensive healthcare in the future. An ageing society, a shortage of doctors, the urban-rural divide and other factors such as pandemics are exacerbating the situation. Digital solutions and AI-supported applications can help to bridge the widening gap between rising demand and declining quality of care.

Genetic counseling plays a major and important role in informing those seeking advice about genetic risks, medical options and possible consequences. This counseling enables individuals and families to understand genetic abnormalities and to engage in potential challenges such as screening, diagnostic measures and further treatment. In recent years, advances in genetics and medicine have significantly advanced genetic diagnostics worldwide. In Switzerland, the number of analyses has risen by around 200% within 10 years and in Germany, the use of genetic counseling is growing by around 6% annually. On the other hand, there are many bottlenecks: long waiting times due to the considerable time required for retrospective data collection from patient files, a stagnating and limited number of specialists in medical genetics and the lack of supporting, efficiently functioning tools for the preparation, follow-up and documentation of genetic counseling.

The need to communicate complex results and information in an understandable way to patients and non-genetically trained specialists, including pedigree analyses, is difficult to manage in routine doctor-patient consultations. The Center for Laboratory Medicine (ZLM) recognized this 2 1/2 years ago and set up a genetic counselling service that is carried out independently of location.

The concept of using innovative digital solutions, telemedicine and the development of an AI-supported "cockpit" to make genetic counseling in the ABH region more efficient and accessible was successful as part of the Interreg-funded project "Smart Health Region 2025 (project no. ABH003)" of BioLAGO e.V. and received funding from the European Regional Development Fund. "This financial support fills us with pride," says Professor Wolfgang Korte, CEO and Chief Physician of the Center for Laboratory Medicine St.Gallen (ZLM), "so the intensive efforts of recent years to establish a modern genetic counseling service at the ZLM have paid off several times over: Firstly for our own patients, as well as through the scientific appreciation of Interreg after extensive review." "This project is the result of an absolute conviction of the advantages of location-independent genetic counseling," says Dr. Poupak Javaher, the lead Swiss project manager (ZLM). The AI-OBG is intended to contribute to making better use of scarce resources in order to meet the increasing demand due to the expanded diagnostic possibilities in medicine and to further improve the quantity and quality of genetic counselling, with the aim of developing a market-oriented pilot solution in the ABH area through artificial intelligence and digitization in cross-border cooperation and thus creating a basis for its implementation.

The Centre for Human Genetics in Tübingen (specialized in molecular genetic diagnostics using high-throughput sequencing) and the Förderverein für Kinder mit seltenen Krankheiten (KMSK), which supports 350,000 affected children and young people with rare (often genetic) diseases in Switzerland and networks affected families, have been won as associated partners. Ultimately, requesting (specialist) doctors, genetic counselors and patients as well as their relatives benefit from such a telemedical solution.

The Center for Laboratory Medicine (ZLM) is a modern, high-performance laboratory accredited to ISO/IEC 17025 (Head: Prof. Dr. med. Wolfgang Korte) and is one of the leading medical diagnostic laboratories in Switzerland. It provides basic laboratory medical care and special analysis in the canton of St.Gallen and fulfills a research and training mandate. With the approval of the Federal Office of Public Health (FOPH), its molecular genetics laboratory examines a broad spectrum of different genetic diseases, in particular hematological neoplasias, hemostasis and thrombophilia clarifications and endocrine tumor diseases; the spectrum has been expanded to include genetic tumor disposition syndromes and exome diagnostics (Whole Exome Sequencing, WES). The Center for Laboratory Medicine operates the only haemophilia and haemostasis center in Eastern Switzerland, which focuses on the diagnosis and treatment of blood clotting disorders.

Media release Center for Laboratory Medicine