Interpret – jedna z rolí klinického genetika

The Interpreter Role of Clinical Geneticist in the Process of Genetic Testing

Due to the progress in genetic research, development and rapid introduction of new genetic tests into clinical practise can be expected. This is raising many ethical issues which need to be carefully considered. First, genetic information is a familial. Thus, the test result of one person may have direct health implications for others who are genetically related. Second, the risks of genetic testing are also psychological, social and financial. Third, due to complex ways of genes interactions, genetic information often has limited predictive power. Finally, many genetic conditions remain difficult to treat or prevent, meaning the value of genetic information may be limited for altering the clinical care for the person. Given these concerns, detailed counselling and informed consent should be key aspects of genetic testing process. Genetic counselling in Czech Republic is provided by clinical geneticist. Therefore he is playing a key role in addressing these issues to patients. His second role is to interpret the genetic information revealed in genetic testing into the language understandable for patient, which means translation of genetic data into diagnosis and clinical management of individual, a transformation from statistics to physical persons. This interpretation is determining many aspects of patient’s future life (future planning, reproductive decisions, prevention, health behaviour, etc.) and also family attitudes towards testing. The importance of genetic counselling, informed consent process and precise interpretation of results will be increasing over the time when new generation of genetic technologies for detecting the common conditions will be introduced into the practise. 

Key words:
genetic testing, predictive testing, genetic counselling, informed consent.