Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
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
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- 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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- Abstract:
- 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