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

PMID: 32775973
PMCID: PMC7397394
DOI: 10.1016/j.eclinm.2020.100487

Free PMC article

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.

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.