Next-generation sequencing and its applications in molecular diagnostics

Next-Generation-Sequencing (NGS) techniques are currently on the rise. This is seen as a revolution by (most) geneticists. The wealth of data stemming from Next-Generation-Sequencing will without a doubt lead to significant advances in the field of molecular diagnostics. On the clinical side, this will be higher detection rates of the genetic causes of particular diseases in patients. On the scientific side, NGS techniques will lead to the discovering of genes related to certain diseases (see, for example, Mardis, et al., 2009; Haack, et al., 2010; Lupski, et al., 2010). However, these advances come at a price: geneticists will be confronted with different and new ICT issues related to NGS. Because of the so far unknown amount of data stemming from NGS, these ICT issues need to be taken seriously. The purpose of this chapter is to give an overview on the different ICT aspects that come with the introduction of Next-Generation-Sequencing in molecular diagnostics.

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The long tail of molecular alterations in non-small cell lung cancer: a single-institution experience of next-generation sequencing in clinical molecular diagnostics

Journal of Clinical Pathology ◽

10.1136/jclinpath-2018-205032 ◽

2018 ◽

Vol 71 (9) ◽

pp. 767-773 ◽

Cited By ~ 6

Author(s):

Caterina Fumagalli ◽

Davide Vacirca ◽

Alessandra Rappa ◽

Antonio Passaro ◽

Juliana Guarize ◽

...

Keyword(s):

Next Generation Sequencing ◽

Molecular Diagnostics ◽

Small Cell ◽

Next Generation ◽

Small Cell Lung ◽

Single Institution ◽

Lung Cancers ◽

Targeted Next Generation Sequencing ◽

Molecular Alterations ◽

Generation Sequencing

BackgroundMolecular profiling of advanced non-small cell lung cancers (NSCLC) is essential to identify patients who may benefit from targeted treatments. In the last years, the number of potentially actionable molecular alterations has rapidly increased. Next-generation sequencing allows for the analysis of multiple genes simultaneously.AimsTo evaluate the feasibility and the throughput of next-generation sequencing in clinical molecular diagnostics of advanced NSCLC.MethodsA single-institution cohort of 535 non-squamous NSCLC was profiled using a next-generation sequencing panel targeting 22 actionable and cancer-related genes.Results441 non-squamous NSCLC (82.4%) harboured at least one gene alteration, including 340 cases (63.6%) with clinically relevant molecular aberrations. Mutations have been detected in all but one gene (FGFR1) of the panel. Recurrent alterations were observed in KRAS, TP53, EGFR, STK11 and MET genes, whereas the remaining genes were mutated in <5% of the cases. Concurrent mutations were detected in 183 tumours (34.2%), mostly impairing KRAS or EGFR in association with TP53 alterations.ConclusionsThe study highlights the feasibility of targeted next-generation sequencing in clinical setting. The majority of NSCLC harboured mutations in clinically relevant genes, thus identifying patients who might benefit from different targeted therapies.

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