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NGS zur Selektion innovativer Therapien – Was bringt das?

NGS for selecting innovative therapies—what are the benefits?

  • Leitthema
  • Published:
Der Gynäkologe Aims and scope

Zusammenfassung

Next Generation Sequencing (NGS) beschreibt eine Technologie zur Sequenzierung des gesamten Genoms, Exoms und Transkriptoms und hat die genomische Forschung revolutioniert. Im Vergleich zur Sanger-Sequenzierung kann nun ein komplettes menschliches Genom binnen eines Tages sequenziert werden. Die Ergebnisse können mit menschlichen Referenzgenomen abgeglichen werden. Durch Fragmentation der DNA, Adaption mittels Adapter an die Bruchstücke und Amplifikation der Fragmente erfolgt eine bioinformatische Analyse, die in Form eines DNA-Chips gespeichert und sequenziert wird. NGS findet viele Anwendungsbereiche, vor allem in der genetischen, mikrobiologischen und onkologischen Forschung, und hat sich bisher noch nicht flächendeckend im klinischen Alltag etabliert. In der Gynäkologie wird NGS insbesondere in der nichtinvasiven Pränataldiagnostik (NIPT), in der Reproduktionsmedizin und in der Onkologie eingesetzt.

Abstract

Next generation sequencing (NGS) describes a technology for sequencing the entire human genome, exome and transcriptome and has revolutionized genomic research. In comparison to Sanger sequencing NGS is able to sequence a whole human genome within 1 day. The results can be aligned with reference human genomes. Through DNA fragmentation, ligation of adaptors on the ends of fragments and amplification of the fragments a bioinformatics analysis is carried out, which is stored in the form of a chip and sequenced. The NGS can be used in multiple applications, especially in genetic, microbiological and oncologic research and has not yet become comprehensively established within the clinical routine. In obstetrics and gynecology, NGS is especially used in noninvasive prenatal testing (NIPT), reproductive medicine and oncology.

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  1. Comprehensive Cancer Center Erlangen (CCC ER-EMN), Frauenklinik, Friedrich-Alexander-Universität Erlangen–Nürnberg (FAU), Universitätsstr. 21–23, 91054, Erlangen, Deutschland

    Carla E. Schulmeyer, Simon Bader, Hanna Hübner, Matthias Rübner &  Peter A. Fasching

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  1. Carla E. Schulmeyer
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P.A. Fasching hat Honoraria von Novartis, Pfizer, Roche, Amgen, Celgene, Daiichi-Sankyo, AstraZeneca, Merck-Sharp & Dohme, Eisai, Puma und Teva erhalten. P.A. Fasching, C.E. Schulmeyer, S. Bader, H. Hübner und M. Rübner weisen auf folgende Beziehungen hin: Die Institution der Autoren führt Studien mit Unterstützung von Novartis und BioNTech durch. C.E. Schulmeyer, S. Bader, H. Hübner und M. Rübner geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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T. Fehm, Düsseldorf

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Schulmeyer, C.E., Bader, S., Hübner, H. et al. NGS zur Selektion innovativer Therapien – Was bringt das?. Gynäkologe 54, 164–174 (2021). https://doi.org/10.1007/s00129-021-04774-9

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