Clinical genetics in the 21^st century

Czech version

Authors: David Stejskal
Authors‘ workplace: Centrum lékařské genetiky a reprodukční medicíny Gennet, s. r. o., Praha
Published in: Čas. Lék. čes. 2019; 158: 4-8
Category: Review Article

Overview

Clinical genetics in the 21^st century is associated with the prevention, prediction, therapeutic and reproductive application of genomics. Its basis is the determination of the individual germinal genome and the monitoring of dynamic and tissue-specific regulation of its activity (epigenomics, transcriptomics) and translation (proteomics, metabolomics) influenced by acquired somatic mutations and environment. This "multi-omic" approach is the basis for both population preventive programs and precise medicine, allowing individual preventive and therapeutic approaches. In addition to preventive information (including the prevention of transmission of clinically relevant variants by preimplantation and prenatal diagnostics or genome editing) and use in precision treatment, genomic information may have a fatal impact on life. While the requirements of erudition are fundamentally altered, the principles of genetic counselling must always be respected: non-directiveness, respecting the right to refuse information and preserving medical secret.

Keywords:

Genomics – multi-omics – genomic medicine

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Labels

Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management

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