Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital
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...
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doaj-ff1834db583942fe9487fe33e686d57c2020-11-25T01:17:11ZengMDPI AGCancers2072-66942019-08-01118119610.3390/cancers11081196cancers11081196Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare HospitalJavier Simarro0Rosa Murria1Gema Pérez-Simó2Marta Llop3Nuria Mancheño4David Ramos5Inmaculada de Juan6Eva Barragán7Begoña Laiz8Enrique Cases9Emilio Ansótegui10José Gómez-Codina11Jorge Aparicio12Carmen Salvador13Óscar Juan14Sarai Palanca15Molecular Biology Unit, Service of Clinical Analysis, University and Polytechnic La Fe Hospital, 46026 Valencia, SpainMolecular Biology Unit, Service of Clinical Analysis, University and Polytechnic La Fe Hospital, 46026 Valencia, SpainMolecular Biology Unit, Service of Clinical Analysis, University and Polytechnic La Fe Hospital, 46026 Valencia, SpainMolecular Biology Unit, Service of Clinical Analysis, University and Polytechnic La Fe Hospital, 46026 Valencia, SpainDepartment of Pathology, University and Polytechnic La Fe Hospital, 46026 Valencia, SpainDepartment of Pathology, University and Polytechnic La Fe Hospital, 46026 Valencia, SpainMolecular Biology Unit, Service of Clinical Analysis, University and Polytechnic La Fe Hospital, 46026 Valencia, SpainMolecular Biology Unit, Service of Clinical Analysis, University and Polytechnic La Fe Hospital, 46026 Valencia, SpainMolecular Biology Unit, Service of Clinical Analysis, University and Polytechnic La Fe Hospital, 46026 Valencia, SpainDepartment of Pulmonology, University and Polytechnic La Fe Hospital, 46026 Valencia, SpainDepartment of Pulmonology, University and Polytechnic La Fe Hospital, 46026 Valencia, SpainClinical and Translational Cancer Research Group, Health Research Institute La Fe, 46026 Valencia, SpainClinical and Translational Cancer Research Group, Health Research Institute La Fe, 46026 Valencia, SpainClinical and Translational Cancer Research Group, Health Research Institute La Fe, 46026 Valencia, SpainDepartment of Medical Oncology, University and Polytechnic La Fe Hospital, 46026 Valencia, SpainMolecular Biology Unit, Service of Clinical Analysis, University and Polytechnic La Fe Hospital, 46026 Valencia, SpainThe 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 <i>TP53</i> (49%), followed by <i>KRAS</i> (31%) and <i>EGFR</i> (13%); in mCRC, <i>TP53</i> (50%), <i>KRAS</i> (48%) and <i>PIK3CA</i> (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.https://www.mdpi.com/2072-6694/11/8/1196next generation sequencingnon-small cell lung cancermetastatic colorectal cancermolecular diagnosticsUNE-EN ISO 15189 accreditation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Javier Simarro Rosa Murria Gema Pérez-Simó Marta Llop Nuria Mancheño David Ramos Inmaculada de Juan Eva Barragán Begoña Laiz Enrique Cases Emilio Ansótegui José Gómez-Codina Jorge Aparicio Carmen Salvador Óscar Juan Sarai Palanca |
spellingShingle |
Javier Simarro Rosa Murria Gema Pérez-Simó Marta Llop Nuria Mancheño David Ramos Inmaculada de Juan Eva Barragán Begoña Laiz Enrique Cases Emilio Ansótegui José Gómez-Codina Jorge Aparicio Carmen Salvador Óscar Juan Sarai Palanca Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital Cancers next generation sequencing non-small cell lung cancer metastatic colorectal cancer molecular diagnostics UNE-EN ISO 15189 accreditation |
author_facet |
Javier Simarro Rosa Murria Gema Pérez-Simó Marta Llop Nuria Mancheño David Ramos Inmaculada de Juan Eva Barragán Begoña Laiz Enrique Cases Emilio Ansótegui José Gómez-Codina Jorge Aparicio Carmen Salvador Óscar Juan Sarai Palanca |
author_sort |
Javier Simarro |
title |
Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital |
title_short |
Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital |
title_full |
Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital |
title_fullStr |
Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital |
title_full_unstemmed |
Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital |
title_sort |
development, implementation and assessment of molecular diagnostics by next generation sequencing in personalized treatment of cancer: experience of a public reference healthcare hospital |
publisher |
MDPI AG |
series |
Cancers |
issn |
2072-6694 |
publishDate |
2019-08-01 |
description |
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 <i>TP53</i> (49%), followed by <i>KRAS</i> (31%) and <i>EGFR</i> (13%); in mCRC, <i>TP53</i> (50%), <i>KRAS</i> (48%) and <i>PIK3CA</i> (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. |
topic |
next generation sequencing non-small cell lung cancer metastatic colorectal cancer molecular diagnostics UNE-EN ISO 15189 accreditation |
url |
https://www.mdpi.com/2072-6694/11/8/1196 |
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