REVIEW – April 2015

Genetics and genetic testing through the eyes of a medical geneticist

Authors: Katrin Õunap

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Until today the main purpose of medical geneticists was to diagnose and sometimes to treat monogenic inherited diseases, congenital anomalies and chromosomal disorders. At the same time, many common diseases such as diabetes, coronary heart disease, cancer and schizophrenia have genetic predisposition. Presently physicians in their everyday practice in Estonia do not use genetic testing for common diseases. However, this situation will change in the future as the use and availability of genetic testing are rapidly increasing in the European Union and the USA. Large-scale use of genetic testing in clinical medicine should be complex, consisting of three main components: counselling before and after testing, genetic testing (technical performance and interpretation), and finally, offering of treatment or preventive measures after testing within the public health care system. All these three components should be equally developed and financed.