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Open AccessArticle

Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital

1
Molecular Biology Unit, Service of Clinical Analysis, University and Polytechnic La Fe Hospital, 46026 Valencia, Spain
2
Clinical and Translational Cancer Research Group, Health Research Institute La Fe, 46026 Valencia, Spain
3
Department of Pathology, University and Polytechnic La Fe Hospital, 46026 Valencia, Spain
4
Department of Pulmonology, University and Polytechnic La Fe Hospital, 46026 Valencia, Spain
5
Department of Medical Oncology, University and Polytechnic La Fe Hospital, 46026 Valencia, Spain
*
Author to whom correspondence should be addressed.
These authors have contributed equally to this work.
Cancers 2019, 11(8), 1196; https://doi.org/10.3390/cancers11081196
Received: 30 July 2019 / Revised: 12 August 2019 / Accepted: 13 August 2019 / Published: 16 August 2019
(This article belongs to the Special Issue Application of Next-Generation Sequencing in Cancers)
The establishment of precision medicine in cancer patients requires the study of several biomarkers. Single-gene testing approaches are limited by sample availability and turnaround time. Next generation sequencing (NGS) provides an alternative for detecting genetic alterations in several genes with low sample requirements. Here we show the implementation to routine diagnostics of a NGS assay under International Organization for Standardization (UNE-EN ISO 15189:2013) accreditation. For this purpose, 106 non-small cell lung cancer (NSCLC) and 102 metastatic colorectal cancer (mCRC) specimens were selected for NGS analysis with Oncomine Solid Tumor (ThermoFisher). In NSCLC the most prevalently mutated gene was TP53 (49%), followed by KRAS (31%) and EGFR (13%); in mCRC, TP53 (50%), KRAS (48%) and PIK3CA (16%) were the most frequently mutated genes. Moreover, NGS identified actionable genetic alterations in 58% of NSCLC patients, and 49% of mCRC patients did not harbor primary resistance mechanisms to anti-EGFR treatment. Validation with conventional approaches showed an overall agreement >90%. Turnaround time and cost analysis revealed that NGS implementation is feasible in the public healthcare context. Therefore, NGS is a multiplexed molecular diagnostic tool able to overcome the limitations of current molecular diagnosis in advanced cancer, allowing an improved and economically sustainable molecular profiling. View Full-Text
Keywords: next generation sequencing; non-small cell lung cancer; metastatic colorectal cancer; molecular diagnostics; UNE-EN ISO 15189 accreditation next generation sequencing; non-small cell lung cancer; metastatic colorectal cancer; molecular diagnostics; UNE-EN ISO 15189 accreditation
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Simarro, J.; Murria, R.; Pérez-Simó, G.; Llop, M.; Mancheño, N.; Ramos, D.; de Juan, I.; Barragán, E.; Laiz, B.; Cases, E.; Ansótegui, E.; Gómez-Codina, J.; Aparicio, J.; Salvador, C.; Juan, Ó.; Palanca, S. Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital. Cancers 2019, 11, 1196.

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