Sekvenciranje naslednje generacije za diagnozo genskih bolezni v neonatalni medicini

diplomsko delo

Abstract

Hitra diagnostika genskih bolezni je v neonatalni medicini velikega pomena. Pravočasna molekulska diagnoza lahko izboljša izid zdravljenja ali olajša odločitev za njegovo prekinitev. Tehnologija NGS se uveljavlja kot vse pomembnejše diagnostično orodje za doseganje čim hitrejše in natančnejše diagnoze v neonatalni medicini. Druga in tretja generacija NGS se lahko uporabljata za različne analize, kot so multigenski panel, WES in WGS. Vsaka izmed aplikacij NGS ima svoje prednosti in slabosti, ki so uporabne v različnih pogojih. Poseben pomen ima sistem rWGS, ki omogoča doseganje molekulske diagnoze v manj kot enem dnevu. Ključnega pomena za prihodnji razvoj takšnih sistemov bo učinkovita, avtomatizirana in hitra bioinformacijska analiza, ki jo bo mogoče izvajati v velikem obsegu. NGS se postopno uveljavlja tudi v neonatalnem presejalnem testiranju, ampak bo na to, da bo lahko samostojno nadomestil biokemijsko testiranje, potrebno še počakati. Napredek tehnologije NGS odpira nova etična vprašanja, povezana z informiranim soglasjem in poročanjem sekundarnih najdb. Pred uveljavitvijo tehnologije v vsakdanji klinični uporabi bo nanje potrebno najti praktične odgovore. Sistem semikvantitativnega ocenjevanja možnosti ukrepanja se ponuja kot potencialno učinkovito orodje za naslavljanje tovrstnih etičnih dilem.

Keywords

NGS;neonatalna medicina;rWGS;multigenski panel;genska bolezen;

Data

Language:	Slovenian
Year of publishing:	2023
Typology:	2.11 - Undergraduate Thesis
Organization:	UL BF - Biotechnical Faculty
Publisher:	[N. Koc]
UDC:	606:616-056.7:612.64:601.4:577.212.3(043.2)
COBISS:	164360963
Views:	10
Downloads:	2
Average score:	0 (0 votes)
Metadata:

Other data

Secondary language:	English
Secondary title:	Next-generation sequencing for genetic disorder diagnosis in neonatal medicine
Secondary abstract:	Rapid diagnosis of genetic diseases is of great importance in neonatal medicine. Timely molecular diagnosis can improve the outcome of treatment or facilitate the decision to discontinue treatment. NGS technology is becoming increasingly important as a diagnostic tool for rapid and accurate diagnosis in neonatal medicine. The second- and third-generation NGS can be used for various analyses, including multigene panels, WES and WGS. Each of the NGS applications has its advantages and disadvantages, that are useful in different conditions. Of particular importance is the rWGS system, which allows molecular diagnosis in less than a day. The key to future development of such systems will be to create an efficient, automated and rapid bioinformatics analysis that can be performed on a large scale. NGS technology is also gradually gaining acceptance in neonatal screening, but the point at which it could independently replace biochemical testing is still a long way off. Advances in NGS technology raise new ethical issues related to informed consent and reporting of secondary findings. Practical answers to these questions must be found before technology can be used in clinical practise. A system of semi-quantitative metrics to assess clinical utility is offered as a potentially effective tool to address such ethical dilemmas.
Secondary keywords:	neonatal medicine;multigene panel;genetic disease;
Type (COBISS):	Bachelor thesis/paper
Study programme:	0
Embargo end date (OpenAIRE):	1970-01-01
Thesis comment:	Univ. v Ljubljani, Biotehniška fak., Študij biotehnologije
Pages:	1 spletni vir (1 datoteka PDF (VIII, 21 str.))
ID:	19917067