#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Clinical genetics in the 21st century


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

Summary

Clinical genetics in the 21st 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


Zdroje
  1. International Human Genome Sequencing Consortium. Finishing the euchromatic sequencing of the human genome. Nature 2004; 431: 931–945.
  2. Weitzel KW, Cavallari LH, Lesko LJ. Preemptive panel-based pharmacogenetic testing: the time is now. Pharm Res 2017; 34(8): 1551–1555.
  3. Roden DM, Van Driest SL, Mosley JD et al. Benefit of pre-emptive pharmacogenetic information on clinical outcome. Clin Pharmacol Ther 2018; 103(5): 787–794.
  4. Reznischenko AS, Huyser C, Pepper MS. Mitochondrial transfer: implications for assisted reproductive technologies. Appl Transl Genom 2016; 15: 40–47.
  5. Talbot K, Tizziano EF. The clinical landscape for SMA in a new therapeutic era. Gene Ther 2017; 24(9): 529–533.
  6. Zhou M, Hu Z, Qiu L et al. Seamless genetic conversion of SMN2 to SMN1 via CRISPR/Cpf1 and single-stranded oligodeoxynucleotides in spinal muscular atrophy patient-specific induced pluripotent stem cells. Hum Gene Ther 2018; 29(11): 1252–1263.
  7. Jinek M, Chylinski K, Fonfara I et al. A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity. Science 2012; 337(6096): 816–821.
  8. Ma H, Marti-Gutierrez N, Park SW et al. Correction of a pathogenic gene mutation in human embryos. Nature 2017; 548(7668): 413–419.
  9. Vassy JL, Christensen KD, Schonmann EF et al.; MedSeq Project. The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: a pilot randomized trial. Ann Intern Med 2017; 167(3): 159–169.
  10. Natarajan P, Peloso GM, Zekavat SM et al. Deep-coverage whole genome sequences and blood lipids among 16,324 individuals. Nat Commun 2018; 9(1): 3391.
Štítky
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 Dental Hygienist
Prihlásenie
Zabudnuté heslo

Zadajte e-mailovú adresu, s ktorou ste vytvárali účet. Budú Vám na ňu zasielané informácie k nastaveniu nového hesla.

Prihlásenie

Nemáte účet?  Registrujte sa

#ADS_BOTTOM_SCRIPTS#