Orphan drugs used for treatment in pediatric patients in the slovak republic
Due to the enormous success of scientific research in the field of paediatric medicine many once fatal children's diseases can now be cured. Great progress has also been achieved in the rehabilitation of disabilities. However, there is still a big group of diseases defined as rare, treatment of which has been traditionally neglected by the drug companies mainly due to unprofitability.
Since 2000 the treatment of rare diseases has been supported at the European level and in 2007 paediatric legislation was introduced. Both decisions together support treatment of rare diseases in children.
In this paper, we shortly characterise the possibilities of rare diseases treatment in children in the Slovak republic and bring the list of orphan medicine products (OMPs) with defined dosing in paediatrics, which were launched in the Slovak market. We also bring a list of OMPs with defined dosing in children, which are not available in the national market. This incentive may help in further formation of the national plan for treating rare diseases as well as improvement in treatment options and availability of rare disease treatment in children in Slovakia.
Genetic diagnostics of hereditary breast and ovarian cancer (HBOC) has been performed in Slovakia in many different forms before the year 2000. Complex HBOC genetic analysis consists of many steps, including the initial genetic consultation, laboratory testing of genes associated with HBOC, interpretation and report of DNA analysis results, secondary explanatory genetic consultation and recommendation of clinical management for pathological mutation carriers. Many clinicians are participating on this workflow, such as clinical geneticists, laboratory diagnosticians as well as gynaecologists, oncologists or radio-diagnosticians. Currently, genetic testing is still technically and financially demanding and aimed only at selected families or patients who fulfil the defined clinical indication criteria.
Positive result of DNA analysis, that is, detection of pathological mutation in genes associated with HBOC syndrome means that the risk of breast/ovarian cancer onset in mutation carriers is amplified. This predisposition markedly affects the clinical management and treatment of patient and other members of the family, thus creating the demand to establish widely accepted specific recommendations for genetic diagnostics of HBOC. In the past, the analysis of HBOC in Slovakia followed various technical approaches and indication criteria depending on the workflow of specific laboratory. The guidelines reported below adhere to the current trends in DNA analysis and clinical healthcare, define the criteria for diagnostic laboratories, conditions for genetic testing and determine indications for selection of HBOC families and further clinical management of mutation carriers.