Centre for Precision Medicine and Program for Undiagnosed Paediatric Patients at the University Hospital Brno

Centre for Precision Medicine and Program for Undiagnosed Paediatric Patients at the University Hospital Brno

University Hospital Brno is the second largest university hospital in the Czech Republic, with more than 6,000 employees, including over 1,000 physicians. It is one of the country’s most important national centres for specialized healthcare and hosts six accredited European Reference Network (ERN) centres focused on rare diseases.

A cornerstone of its innovative approach is the Centre for Precision Medicine, a unique facility in the Czech Republic dedicated to the integration of genomics and other advanced diagnostic technologies and modern therapies into clinical care. The centre’s activities consistently go beyond the state of the art, aiming not only to improve diagnostics and treatment in everyday clinical practice but also to advance research and provide education for healthcare professionals and the general public. The centre actively collaborates with leading research institutes in the Czech Republic and abroad, as well as with key representatives of the pharma and biotechnology industry and patient organizations, ensuring that scientific innovation is effectively translated into meaningful clinical outcomes and patient support.

While precision oncology is already available in several Comprehensive Cancer Centres across the country, dedicated precision medicine programs for ultra-rare and undiagnosed diseases are offered exclusively at University Hospital Brno. One of the centre’s flagship initiatives is the Program for Undiagnosed Paediatric Patients — a comprehensive and multidisciplinary effort to support children with suspected rare diseases who have not received a diagnosis despite extensive standard testing.

The program includes a dedicated Outpatient Clinic for Undiagnosed Paediatric Patients, a multidisciplinary expert case review board, and access to an extensive portfolio of advanced diagnostic approaches such as whole-genome sequencing (WGS), transcriptomics, methylomics, long-read sequencing, functional evaluation of variants of uncertain significance, and deep clinical phenotyping. Currently, a year and a half after establishment, the clinic follows more than 150 children, many of whom are enrolled in national and international research efforts. Among the key projects coordinated at the centre is the nationwide project Baby Fox, focused on the implementation of rapid trio WGS in neonatal and paediatric intensive care units across Czechia.

A central component of the program is the multidisciplinary case review board, which brings together clinical geneticists, paediatricians, neurologists, radiologists, molecular and laboratory specialists, and bioinformaticians. This team meets regularly to discuss and re-evaluate unsolved cases, propose new diagnostic strategies, and determine eligibility for research studies or international referral through ERNs.

By combining expert clinical care with cutting-edge technology and international collaboration, the program at the Centre for Precision Medicine significantly improves diagnostic rates and reduces the diagnostic odyssey for patients and families. It also contributes to building national data infrastructure and developing best practices for managing undiagnosed paediatric diseases in the Czech Republic.

Photo credits: https://www.fnbrno.cz/en/about-us/t6195