It is estimated that at least half of patients with rare genetic diseases remain undiagnosed despite standard clinical care. For these patients and their families, it is challenging to face sometimes lengthy and complex diagnostic procedures that can take several years, sometimes referred to as the “diagnostic odyssey”. The aim of precision medicine in this field is to find and describe the genetic basis of the disease, thus enabling not only a diagnosis but also a better understanding of the individual clinical manifestations of the patient and, if the nature of the disease allows it, to set up an appropriate treatment plan or long-term follow-up plan.
In April 2020, a research project entitled "Utilization of Modern Genomic Methods to Identify Genetic Causes of Rare Diseases in the Pediatric Population" was initiated at the Pediatric Department of University Hospital Brno and the Faculty of Medicine, Masaryk University. Since 2022, the project has continued under the title "Utilization of Whole-Genome/Whole-Exome Sequencing to Identify Genetic Causes of Rare Diseases in Undiagnosed Pediatric Patients." Children suspected of having monogenic diseases within the spectrum of rare or ultra-rare diseases are gradually being enrolled in this project. The main goal is to establish a diagnosis, which then allows better and individualized care for these patients, although in the vast majority of cases, causal therapy is not possible. So far, over 70 patients have been included in this project, and a diagnosis has been made in more than 40 % of them. The project is carried out in collaboration with laboratories at CEITEC MU and the Department of Biology at the Faculty of Medicine, Masaryk University (group of Prof. Slaby, Petra Pokorna), where whole-exome or whole-genome sequencing is performed.
Four years later, in September 2023, this project led to the establishment of a new outpatient clinic within the Pediatric Department - the Outpatient Clinic for Undiagnosed Pediatric Patients. This facility focuses on providing care to patients who have not been diagnosed despite extensive medical examinations. For each patient, the results of all their previous examinations are summarized and evaluated in order to provide a comprehensive view of their health status. This is a necessary prerequisite for establishing a diagnosis and setting up individualized treatment plan.
In the care of these patients, a multidisciplinary approach based on the collaboration of physicians and medical specialists from a number of different disciplines, such as pediatrics, neurology, neonatology, cardiology, medical and clinical genetics, and others, is essential. Therefore, the Pediatric Department of University Hospital Brno has established a Multidisciplinary Indication Board for Undiagnosed Pediatric Patients. This committee meets regularly once a month in person, and its activities are linked to the Outpatient Clinic for Undiagnosed Pediatric Patients. The mission of this committee is primarily to coordinate the activities of experts involved in the care, diagnosis, and treatment.
The chairman of the Multidisciplinary Indication Board for Undiagnosed Pediatric Patients is the head of the Pediatric Department, Assoc. Prof. Petr Jabandziev, M.D., Ph.D. (pediatrician, gastroenterologist, nutritionist), and the Vice-Chair is Katerina Slaba, M.D., Ph.D. (pediatrician), who directly works at the Outpatient Clinic for Undiagnosed Pediatric Patients.
Contact person:
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Katerina Slaba, M.D., Ph.D.Physician of the Outpatient Clinic for Undiagnosed Pediatric Patients, Department of Pediatrics, University Hospital Brno (FN Brno) and Faculty of Medicine, Masaryk University (LF MU) Email: |