Zusammenfassung
Moderne genetische Analysemethoden wie DNA-Arrays (Gen-Chips) oder Hochdurchsatz-DNA-Sequenzanalyseverfahren der nächsten Generation (Next Generation Sequencing, NGS) haben in den vergangenen 10 Jahren der „Postgenom-Ära“ das hohe Innovationstempo, das durch die Genomforschung vorgegeben wurde, nochmals erheblich erhöht. In der vorliegenden Arbeit werden mit den Array- und NGS-Verfahren zwei wichtige innovationstreibende Methoden und Beispiele für deren Anwendung in wissenschaftlichen Großprojekten vorgestellt. Eine breite Anwendung dieser sehr leistungsfähigen Technologien für genetische Reihenuntersuchungen zum Zwecke der Krankheitsprävention ist derzeit jedoch noch nicht in Sicht. Der Komplexitätsgrad der Interaktion zwischen Genen, Genprodukten und Umwelt hat alle Erwartungen übertroffen, sodass zuverlässige Aussagen über die medizinische Relevanz häufiger genetischer Varianten derzeit nur in wenigen Bereichen wie z. B. der Pharmakogenetik oder der Onkologie möglich sind. Es werden auch ethische Fragen diskutiert, die durch ein genetisches Bevölkerungsscreening aufgeworfen werden. Ziel des Beitrags ist es, über einen kurzen Abriss der Methodenentwicklung in der Molekulargenetik zu den heute dominierenden modernen Technologien überzuleiten und deren Anwendungen in der Forschung und der Diagnostik von seltenen Krankheiten, auch im Hinblick auf Screeningansätze, darzustellen.
Abstract
Modern genetic analysis methods such as DNA arrays (gene chips) or high-throughput DNA sequencing of the next generation (Next Generation Sequencing, NGS) have once again accelerated the pace of innovation that has been powered by genome research over the past 10 years of the “post-genomic era”. The present paper introduces array and NGS methods as two important innovation driving methods and provides examples for their application in large-scale scientific projects. However, a broad application of these very powerful technologies for genetic screening for the purpose of disease prevention is currently not yet in sight. The complexity of the interaction of genes, gene products and the environment has so far exceeded all expectations, suggesting that reliable statements about the medical relevance of common genetic variants can presently only be made in a few areas such as pharmacogenetics and oncology. We also discuss ethical issues raised by genetic population screening. The aim of this paper is to provide a brief outline of the development of methods in molecular genetics to the now dominant modern technologies and present their applications in research, in the diagnosis of rare diseases, and in terms of screening approaches.
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Klein, HG., Rost, I. Moderne genetische Analysemethoden. Bundesgesundheitsbl. 58, 113–120 (2015). https://doi.org/10.1007/s00103-014-2088-z
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DOI: https://doi.org/10.1007/s00103-014-2088-z