Clinical practice is moving towards the era of personalized healthcare, where understanding biological processes at the molecular level will enable healthcare professionals to implement tailored treatment for the patient. This higher level of treatment personalization, based on the molecular biological characterization of disease, is then referred to as precision medicine.
Currently, precision medicine is primarily implemented in the field of oncology (so-called precision oncology). It represents an innovative treatment approach enabling cancer patients to create individualized treatment plans based on the biological characteristics of their tumors. This principle has been successfully applied in both adult and pediatric oncology.
Another extensive area where the principles of precision medicine are applied is in the field of rare and ultra-rare diseases. More than 80 % of these diseases have a genetic origin. Diagnosis and treatment of these diseases can be challenging due to the limited number of patients (often very small number or low tens of patients worldwide) and the lack of information. Patients and their families usually face lengthy and complex diagnostic processes that can take several years, sometimes referred to as a “diagnostic odyssey“. The aim of precision medicine in rare diseases is to identify and comprehensively describe the genetic basis of the disease. This approach not only enhances understanding of the individual clinical manifestations of the patient but also, where feasible, facilitates the development of appropriate treatment or long-term management plans.
The clinical application of precision medicine is very closely linked to translational research, which plays a crucial role in the timely implementation of new scientific results into clinical practice. Therefore, physicians and professionals focusing on precision medicine are often also active researchers who push the boundaries of their fields toward the most advanced diagnostic and therapeutic procedures. All areas of precision medicine, including research, are characterized by the fact that they require costly infrastructural, technological, and personnel resources.
The Center for Precision Medicine of the University Hospital Brno brings together experts from various fields of precision medicine and their clinical and research activities into one joint interdisciplinary center. The Center aims at coordinated and efficient development in this field, which will also enable rapid implementation of new technologies and approaches of precision medicine into clinical practice and thus ensure the availability of the most advanced diagnostic and therapeutic solutions for patients of the University Hospital Brno.
University Hospital Brno is a pioneer across various fields of precision medicine in Czech Republic. Beginning with precision oncology in pediatric patients, where the Department of Paediatric Oncology became the first in the Czech Republic and the entire CEE region to implement these precision medicine into practice a decade ago, to the area of undiagnosed pediatric patients, where the first outpatient clinic for undiagnosed pediatric patients in the Czech Republic was opened at the Department of Pediatrics of the University Hospital Brno in September 2023. The successful introduction of precision medicine into clinical practice at the University Hospital Brno has resulted in hundreds of successfully treated cancer patients, children who, after many years of diagnostic odyssey, received their genetic diagnosis, their siblings who were born healthy, and human stories that would never have happened without precision medicine and the medical specialists of the University Hospital Brno.
News
21.11.2024 New publication from the Undiagnosed Pediatric Patients Team
Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases
In the last decade, undiagnosed disease programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases. Therefore, in 2020-2023, a pilot program (study) for pediatric patients with undiagnosed diseases has been launched at the Department of Pediatrics at University Hospital Brno. A total of 58 Czech patients with undiagnosed diseases were enrolled in the study. All children underwent singleton WES with targeted phenotype-driven analysis. It identified 28 variants, including 11 pathogenic, 13 likely pathogenic, and 4 VUS according to ACMG guidelines, as diagnostic of genetic diseases in 25 patients, resulting in an overall diagnostic yield of 43 %. Eleven variants were novel and had not been previously reported in any public database. The overall clinical utility (actionability) enabling at least one type of change in the medical care of the patient was 76 %. The study showed that singleton WES facilitated the diagnostic process in the Czech undiagnosed pediatric population and that this diagnostic has significant implications for their care.
More details about the publication are available at this link: Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases | Scientific Reports
14.11.2024 New publication from the Precision Pediatric Oncology team
Real-World Performance of Integrative Clinical Genomics in Pediatric Precision Oncology
Despite advances in the treatment of pediatric cancer patients, outcomes for high-risk and relapsed tumors remain disappointing and are often associated with serious side effects. This study analysed the genomic and transcriptomic profiles of 230 pediatric patients with malignant solid tumors and 18 patients with recurrent or otherwise difficult-to-treat nonmalignant conditions. Clinically significant genetic alterations were found in 55% of the patients' tumors, and individualised treatment strategies were suggested based on molecular findings in 38%. The study highlights the contribution of precision oncology in optimising treatment and refining diagnosis in pediatric oncology.
More information on the contents of the publication can be found at the following link: Real-World Performance of Integrative Clinical Genomics in Pediatric Precision Oncology - Laboratory Investigation.
15.10.2024 The Congress of the International Society of Pediatric Oncology invited the oncologist from the University Hospital Brno to give a lecture, confirming the high level of Czech oncology
This important and prestigious congress, organised by the International Society for Pediatric Oncology (SIOP), will be held this year with the participation of the Czech oncologist and Head of the Department of Pediatric Oncology at the University Hospital Brno, Prof. Jaroslav Sterba, M.D., Ph.D.
Before his departure, Prof. Sterba also answered several questions, one of which concerned current trends in oncology. Prof. Sterba sees them clearly in precision oncology, which is provided by the Centre for Precision Medicine of the University Hospital Brno and in immunotherapy, which is implemented at the Faculty of Medicine, Masaryk University and the CREATIC Centre.
More information about the congress is available at this link: SIOP 2024 Programme Highlights | SIOP 2024 (56th Congress of the International Society of Paediatric Oncology) | Honolulu, Hawaii
On May 1, 2024 - the new Center for Precision Medicine was established at the University Hospital Brno, which brings together experts from various fields of precision medicine and their clinical and research activities into one joint interdisciplinary center. The Center aims at coordinated and efficient development in this field, which will also enable rapid implementation of new technologies and approaches of precision medicine into clinical practice and thus ensure the availability of the most advanced diagnostic and therapeutic solutions for patients of the University Hospital Brno.