md-medicaldata

Authors

 

Milan Obrenović¹, Ivana Kavečan^1,2, Boris Privrodski¹, Biljana Bojadžijeva Stojanoska<sup>3

1</sup>Institute for Children and Youth Health Care of Vojvodina, Novi Sad, Serbia
²University of Novi Sad, Faculty of Medicine, Novi Sad, Serbia
³Institute of Anatomy, Medical faculty, University St. Cyril and Methodius, Skopje, Republic of Macedonia

 

Rad primljen: 27.10.2017./ Rad prihvaćen: 12.12.2017.

 

Correspondence to

Ivana Kavečan,
Univerzitet u Novom Sadu, Medicinski fakultet
University of Novi Sad, Faculty of Medicine
Hajduk Veljkova 3
21000 Novi Sad, Srbija
tel. 021 4880444
e-mail: ivana.kavecan@mf.uns.ac.rs

 

 

Sažetak

 

Razvoj genetskih metoda iz osnova menja pristup pacijentu i uvodi novo poglavlje u razvoju medicine.Genetska ispitivanja danas više nisu ograničena samo na retke bolesti, već se mogu sprovesti i za kompleksne bolesti, čime je omogućen individualizovan pristup pacijentu. Primena kliničkih genetskih ispitivanja obuhvata: novorođenački skrining, dijagnostičko ispitivanje, ispitivanje nosilaca mutacija, prediktivna ispitivanja, presimptomatsko ispitivanje, farmakogenetska ispitivanja. Povećana je i dostupnost različitih metoda molekularne dijagnostike kao i njihova klinička primena. Precizna molekularna dijagnostika ima jasnu prednost i omogućava bolji pristup i donošenje preciznijih odluka u dijagnostici i lečenju. Neophodno je usvajanje novih saznanja kako bi se izbegle nejasnoće pri davanju informacija obolelim osobama i članovima njihovih porodica.

 

 

 

Ključne reči:

genetske analize; dijagnostičko testiranje; preimplantaciona genetska dijagnostika; skrining

 

 

Abstract

 

The development of genetic methods basically changes access to the patient and introduces a new chapter in medicine. Genetic examinations are no longer limited to rare diseases, and also could be perform for complex diseases, enabling individualized access to the patient. The application of clinical genetic testing includes: newborn screening, diagnostic testing, mutation carrier testing, predictive examinations, presymptomaticexamination and pharmacogenetic testing. The availability of various molecular diagnostic methods as well as their clinical application has increased. Precise molecular diagnostics have a clear advantage and enable better access and make more precise decisions in diagnosis and treatment. It is necessary to acquire new knowledge to avoid the ambiguity of providing information to affected persons and members of their families.

 

 

Key words:

genetic analysis; diagnostic testing; preimplantation genetic diagnosis; screening

 

 

References

 

1. Green ED, Guyer MS. Charting a course for genomic medicine from base pairs to bedside. Nature 2011;470:204-13.
2. Pasche B, Absher D. Whole-genome sequencing: a step closer to personalized medicine. JAMA 2011;305(15):1596-7.
3. Katsanis SH, Katsanis N. Molecular genetic testing and the future of clinical genomics. Nat Rev Genet 2013;14(6):415-26.
4. Bakker E. Is the DNA sequence the gold standard in genetic testing? Quality of molecular genetic tests assessed. Clin Chem 2006;52(4):557-8.
5. Kearns WG, Pen R, Graham J, Han T, Carter J, Moyer M et al. Preimplantation genetic diagnosis and screening. Semin Reprod Med 2005;23(4):336-47.
6. Newman WG, Black GC. Delivery of a clinical genomics service. Genes 2014;5(4): 1001-17.
7. Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I. Guidelines for diagnostic next-generation sequencing. EJGH 2016;24(1):2-5.

UDK: 577.213.3

PDF Obrenović M. et al. • MD-Medical Data 2017;9(4): 253-256