title: Use of the GeneReader NGS System in a clinical pathology laboratory: a comparative study.
abstract: Despite its successful use in academic research, next-generation sequencing (NGS) still represents many challenges for routine clinical adoption due to its inherent complexity and specialised expertise typically required to set-up, test and operate a complete workflow.This study aims to evaluate QIAGEN's newly launched GeneReader NGS System solution in a pathology laboratory setting by assessing the system's ease of use, sequencing accuracy and data reproducibility. Our laboratory was able to implement the system and validate its performance using clinical samples in direct comparison to an approved Sanger sequencing platform and to an alternative in-house NGS technology. The QIAGEN workflow focuses on clinically actionable hotspots maximising testing efficiency. Combined with automated upstream sample processing and integrated downstream bioinformatics, it offers a realistic solution for pathology laboratories with limited prior experience in NGS technology.
authors.affiliation: Institute of Pathology, University Hospital of Cologne, Cologne, Germany.
authors.forename: Ulrike
authors.initials: U
authors.lastname: Koitzsch
authors.affiliation: Institute of Pathology, University Hospital of Cologne, Cologne, Germany.
authors.forename: Carina
authors.initials: C
authors.lastname: Heydt
authors.affiliation: QIAGEN GmbH, Hilden, Germany.
authors.forename: Hans
authors.initials: H
authors.lastname: Attig
authors.affiliation: Institute of Pathology, University Hospital of Cologne, Cologne, Germany.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Immerschitt
authors.affiliation: Institute of Pathology, University Hospital of Cologne, Cologne, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Merkelbach-Bruse
authors.affiliation: QIAGEN GmbH, Hilden, Germany.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Fammartino
authors.affiliation: Institute of Pathology, University Hospital of Cologne, Cologne, Germany.|Center of Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
authors.forename: Reinhard H
authors.initials: RH
authors.lastname: Büttner
authors.affiliation: Institute of Pathology, University Hospital of Cologne, Cologne, Germany.
authors.forename: Yi
authors.initials: Y
authors.lastname: Kong
authors.affiliation: Institute of Pathology, University Hospital of Cologne, Cologne, Germany.|Center of Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
authors.forename: Margarete
authors.initials: M
authors.lastname: Odenthal
mesh_terms: D004273:DNA, Neoplasm / Q000235:genetics*; D052138:Genes, Neoplasm / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics; D009369:Neoplasms / Q000235:genetics*; D010338:Pathology, Clinical / Q000379:methods*; D016133:Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA
chemical_list: D004273:DNA, Neoplasm; D009363:Neoplasm Proteins
keywords: LABORATORY MANAGEMENT; METHODOLOGY; MOLECULAR ONCOLOGY; MOLECULAR PATHOLOGY; TUMOUR MARKERS