REVIEW – May 2019

Genetics in clinical medicine – present and tomorrow

Authors: Sander Pajusalu, Katrin Õunap

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This review aims to summarize the current state of clinical genetics in Estonia and to provide insights into future developments. The rapid evolution of technology has changed the field of clinical genetics tremendously. Genetic testing, including genome-wide analyses, is readily available and widely used across many medical specialities. Increasingly more patients receive exact molecular diagnosis, which will serve as the basis for treatment, counselling and prevention. The first gene therapy solutions have received approval from agencies of medicines, and many clinical trials for gene therapies are ongoing. All these developments raise challenges for health insurance funds as well as for general public.