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Review
. 2020 Jul 31:25:100487.
doi: 10.1016/j.eclinm.2020.100487. eCollection 2020 Aug.

When should we order a next generation sequencing test in a patient with cancer?

Ramon Colomer  1   2   3   4 , Rebeca Mondejar  1   2   3 , Nuria Romero-Laorden  2   4 , Arantzazu Alfranca  5 , Francisco Sanchez-Madrid  1   3   5 , Miguel Quintela-Fandino  1   4   6
Affiliations
Review

When should we order a next generation sequencing test in a patient with cancer?

Ramon Colomer et al. EClinicalMedicine. .

Abstract

Technical advances in genome sequencing and the implementation of next-generation sequencing (NGS) in clinical oncology have paved the way for individualizing cancer patient therapy based on molecular profiles. When and how to use NGS testing in the clinic is at present an unsolved issue, although new research results provide evidence favoring this approach in some types of advanced cancer. Clinical research is evolving rapidly, from basket and umbrella trials to adaptative design precision oncology clinical studies, and genomic and molecular data often displace the classical clinical validation procedures of biomarkers. In this context, physicians must be aware of the clinical evidence behind these new biomarkers and NGS tests available, in order to use them in the right moment, and with a critical point of view. This review will present the status of currently available targeted drugs that can be effective based on actionable molecular alterations, and the NGS tests that are currently available, offering a practical guide for the application of Clinical Precision Oncology in the real world routine practice.

Keywords: Cancer Genomics; Cancer Therapy; Next generation sequencing; Personalised medicine; Precision oncology; Targeted therapy.

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Conflict of interest statement

RC has received speaker's honoraria from BMS, AstraZeneca, Lilly, Roche, Pfizer, MSD, Janssen and Novartis, honoraria for participation as consultant or in Advisory Boards from Lilly, MSD, Roche and Servier, institutional research funding from BMS, MSD, Roche, Pfizer, AstraZeneca and Astellas, and has participated in academic activities funded by Fundacion Instituto Roche. RM has received speakers honoraria and honoraria from Advisory Boards from Merck, Roche, and Amgen, and has participated in academic activities funded by Fundacion Instituto Roche. NR-L has received speaker's honoraria from Bayer, Pfizer, Astellas Pharma, Sanofi, Janssen-Cilag, Roche, PharmaMar, and institutional research funding from Janssen-Cilag, Bayer, Astellas Pharma, Sanofi. MQ-F has received research funding from AstraZeneca and Bayer, and institutional research funding from MEI Pharma, Boehringer-Ingelheim, Bayer and Novartis. All other authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Timeline showing the main clinical precision oncology highlights. a) Therapeutic landmarks and their molecular targets (in green). b) Most relevant diagnostic technologies (in blue) and regulatory landmarks (in yellow).
Fig. 2
Fig. 2
When to order a NGS Test in 2020. NGS is occasionally indicated in advanced cancers when there are several actionable targets (such as NSCLC), in some selected rare cancers, when there are clinical trials guided by molecular testing available, and in those cases with an exceptional response to a molecularly guided therapy. NGS is not indicated in early stage cancer, especially when definitive therapy will be delivered, or in patients with very advanced cancers that show rapid progression and have poor performance status or short expected lifetime.
See this image and copyright information in PMC

References

    1. Jameson J.L., Longo D.L. Precision medicine–personalized, problematic, and promising. N Engl J Med. 2015 Jun 4;372(23):2229–2234. - PubMed
    1. Hodson R. Precision medicine. Nature. 2016 Sep 8;537(7619):S49. - PubMed
    1. Wheeler D.A., Wang L. From human genome to cancer genome: the first decade. Genome Res. 2013 Jul;23(7):1054–1062. - PMC - PubMed
    1. Green E.D., Watson J.D., Collins F.S. Human Genome Project: twenty-five years of big biology. Nature. 2015 Oct 1;526(7571):29–31. - PMC - PubMed
    1. Mirnezami R., Nicholson J., Darzi A. Preparing for precision medicine. N Engl J Med. 2012 Feb 9;366(6):489–491. - PubMed

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