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Impact and Diagnostic Gaps of Comprehensive Genomic Profiling in Real-World Clinical Practice

Purpose: next-generation sequencing based comprehensive genomic profiling (CGP) is becoming common practice. Although numerous studies have shown its feasibility to identify actionable genomic alterations in most patients, its clinical impact as part of routine management across all cancers in the c...

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Autores principales: Singh, Aditi P., Shum, Elaine, Rajdev, Lakshmi, Cheng, Haiying, Goel, Sanjay, Perez-Soler, Roman, Halmos, Balazs
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7281757/
https://www.ncbi.nlm.nih.gov/pubmed/32375398
http://dx.doi.org/10.3390/cancers12051156
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author Singh, Aditi P.
Shum, Elaine
Rajdev, Lakshmi
Cheng, Haiying
Goel, Sanjay
Perez-Soler, Roman
Halmos, Balazs
author_facet Singh, Aditi P.
Shum, Elaine
Rajdev, Lakshmi
Cheng, Haiying
Goel, Sanjay
Perez-Soler, Roman
Halmos, Balazs
author_sort Singh, Aditi P.
collection PubMed
description Purpose: next-generation sequencing based comprehensive genomic profiling (CGP) is becoming common practice. Although numerous studies have shown its feasibility to identify actionable genomic alterations in most patients, its clinical impact as part of routine management across all cancers in the community remains unknown. Methods: we conducted a retrospective study of all patients that underwent CGP as part of routine cancer management from January 2013 to June 2017 at an academic community-based NCI-designated cancer center. CGP was done in addition to established first tier reflex molecular testing as per national guidelines (e.g., EGFR/ALK for non-small cell lung cancer (NSCLC) and extended-RAS for colorectal cancer). Results: 349 tests were sent for CGP from 333 patients and 95% had at least one actionable genomic alteration reported. According to the reported results, 23.2% had a Food and Drug Administration (FDA) approved therapy available, 61.3% had an off-label therapy available and 77.9% were potentially eligible for a clinical trial. Treatment recommendations were also reviewed within the OncoKB database and 47% of them were not clinically validated therapies. The CGP results led to treatment change in only 35 patients (10%), most commonly in NSCLC. Nineteen of these patients (54% of those treated and 5% of total) had documented clinical benefit with targeted therapy. Conclusion: we demonstrate that routine use of CGP in the community across all cancer types detects potentially actionable genomic alterations in a majority of patients, however has modest clinical impact enriched in the NSCLC subset.
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spelling pubmed-72817572020-06-15 Impact and Diagnostic Gaps of Comprehensive Genomic Profiling in Real-World Clinical Practice Singh, Aditi P. Shum, Elaine Rajdev, Lakshmi Cheng, Haiying Goel, Sanjay Perez-Soler, Roman Halmos, Balazs Cancers (Basel) Article Purpose: next-generation sequencing based comprehensive genomic profiling (CGP) is becoming common practice. Although numerous studies have shown its feasibility to identify actionable genomic alterations in most patients, its clinical impact as part of routine management across all cancers in the community remains unknown. Methods: we conducted a retrospective study of all patients that underwent CGP as part of routine cancer management from January 2013 to June 2017 at an academic community-based NCI-designated cancer center. CGP was done in addition to established first tier reflex molecular testing as per national guidelines (e.g., EGFR/ALK for non-small cell lung cancer (NSCLC) and extended-RAS for colorectal cancer). Results: 349 tests were sent for CGP from 333 patients and 95% had at least one actionable genomic alteration reported. According to the reported results, 23.2% had a Food and Drug Administration (FDA) approved therapy available, 61.3% had an off-label therapy available and 77.9% were potentially eligible for a clinical trial. Treatment recommendations were also reviewed within the OncoKB database and 47% of them were not clinically validated therapies. The CGP results led to treatment change in only 35 patients (10%), most commonly in NSCLC. Nineteen of these patients (54% of those treated and 5% of total) had documented clinical benefit with targeted therapy. Conclusion: we demonstrate that routine use of CGP in the community across all cancer types detects potentially actionable genomic alterations in a majority of patients, however has modest clinical impact enriched in the NSCLC subset. MDPI 2020-05-04 /pmc/articles/PMC7281757/ /pubmed/32375398 http://dx.doi.org/10.3390/cancers12051156 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Singh, Aditi P.
Shum, Elaine
Rajdev, Lakshmi
Cheng, Haiying
Goel, Sanjay
Perez-Soler, Roman
Halmos, Balazs
Impact and Diagnostic Gaps of Comprehensive Genomic Profiling in Real-World Clinical Practice
title Impact and Diagnostic Gaps of Comprehensive Genomic Profiling in Real-World Clinical Practice
title_full Impact and Diagnostic Gaps of Comprehensive Genomic Profiling in Real-World Clinical Practice
title_fullStr Impact and Diagnostic Gaps of Comprehensive Genomic Profiling in Real-World Clinical Practice
title_full_unstemmed Impact and Diagnostic Gaps of Comprehensive Genomic Profiling in Real-World Clinical Practice
title_short Impact and Diagnostic Gaps of Comprehensive Genomic Profiling in Real-World Clinical Practice
title_sort impact and diagnostic gaps of comprehensive genomic profiling in real-world clinical practice
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7281757/
https://www.ncbi.nlm.nih.gov/pubmed/32375398
http://dx.doi.org/10.3390/cancers12051156
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