Speakers

• Uffe Birk Jensen, Department of Clinical Medicine
• Naja Helene Becher, Department of Clinical Medicine

Abstract

Clinical genetics is a rather new medical specialty in many European countries although the field has been practiced for more than half a century. Thus, it was recognized as a medical specialty only 12 years ago at the EU level. One of our core functions is to provide genetic counselling understood as the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition. Uffe Birk Jensen will show you some cases from our clinic with focus on neurogenetic disorders. He will give examples on genomic alterations outside the coding region of the genome in order to demonstrate how complex a case can be and how far we sometimes need to go to understand why some DNA alterations can cause disease. Naja Becher will take you through the process of exome diagnostics in clinical genetics from the outpatient clinic, through DNA-sequencing, variant filtering and variant interpretation and finally writing the report and counseling the patient. Indications, reasons, limitation and perspectives of exome diagnostics will be demonstrated.

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