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SHR Neuro Krebs Kardio Lipid Stoffw Microb

Perakis, SO; Weber, S; Zhou, Q; Graf, R; Hojas, S; Riedl, JM; Gerger, A; Dandachi, N; Balic, M; Hoefler, G; Schuuring, E; Groen, HJM; Geigl, JB; Heitzer, E; Speicher, MR.
Comparison of three commercial decision support platforms for matching of next-generation sequencing results with therapies in patients with cancer.
ESMO Open. 2020; 5(5):e000872 Doi: 10.1136/esmoopen-2020-000872 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG


Führende Autor*innen der Med Uni Graz
Hasenleithner Samantha
Heitzer Ellen
Speicher Michael
Co-Autor*innen der Med Uni Graz
Balic Marija
Dandachi Nadia
Geigl Jochen Bernd
Gerger Armin
Graf Ricarda
Hammer Sabrina
Höfler Gerald
Riedl Jakob
Zhou Qing

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OBJECTIVE: Precision oncology depends on translating molecular data into therapy recommendations. However, with the growing complexity of next-generation sequencing-based tests, clinical interpretation of somatic genomic mutations has evolved into a formidable task. Here, we compared the performance of three commercial clinical decision support tools, that is, NAVIFY Mutation Profiler (NAVIFY; Roche), QIAGEN Clinical Insight (QCI) Interpret (QIAGEN) and CureMatch Bionov (CureMatch). METHODS: In order to obtain the current status of the respective tumour genome, we analysed cell-free DNA from patients with metastatic breast, colorectal or non-small cell lung cancer. We evaluated somatic copy number alterations and in parallel applied a 77-gene panel (AVENIO ctDNA Expanded Panel). We then assessed the concordance of tier classification approaches between NAVIFY and QCI and compared the strategies to determine actionability among all three platforms. Finally, we quantified the alignment of treatment suggestions across all decision tools. RESULTS: Each platform varied in its mode of variant classification and strategy for identifying druggable targets and clinical trials, which resulted in major discrepancies. Even the frequency of concordant actionable events for tier I-A or tier I-B classifications was only 4.3%, 9.5% and 28.4% when comparing NAVIFY with QCI, NAVIFY with CureMatch and CureMatch with QCI, respectively, and the obtained treatment recommendations differed drastically. CONCLUSIONS: Treatment decisions based on molecular markers appear at present to be arbitrary and dependent on the chosen strategy. As a consequence, tumours with identical molecular profiles would be differently treated, which challenges the promising concepts of genome-informed medicine.
Find related publications in this database (using NLM MeSH Indexing)
Carcinoma, Non-Small-Cell Lung - administration & dosage
Circulating Tumor DNA - administration & dosage
High-Throughput Nucleotide Sequencing - administration & dosage
Humans - administration & dosage
Lung Neoplasms - drug therapy, genetics
Precision Medicine - administration & dosage

Find related publications in this database (Keywords)
circulating tumour DNA
next-generation sequencing
molecular profiling
clinical decision support
variant interpretation
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