Katayoun Afshar - Swiss Society of Medical Genetics (SSMG),The Genetics Society of America,The American Society of Cell Biologists

Genetic research and the recent technological advances have contributed tremendously in increasing the number of the routine diagnostic test and has opened a venue for genomic and personalized medicine. Nevertheless, assessment of the variants and the determination of the combinatorial effects of several genetics and environmental factors remains the most challenging step for the interpretation of the results or evaluation of the risks of the disease development in the patients. Close collaboration between the health care providers, research and diagnostic laboratories as well as development of bioinformatics tools and algorithms have been proven to be neccessary for efficient utilisation and interpretation of the high throughput data in the diagnostics testing. Our laboratory has overcome some of these challenges and has developed many products for Pharmacogenetics, Predictive and Preventive medicine. In this presentation, I will describe examples of the development and utilisation of the genetic tests for evaluation of risks and side effects associated with consumption of specific or combined drugs. In particular, I will describe a product that provides evaluation of the risk of venous thromboembolism associated with taking oral contraceptives, taking into account genetic factors, age, environmental factors and the type of the contraceptive pills.

Pharmacogenetics