Clinics (Sao Paulo). 2017 October; 72(10): 588-594.

Copyright © 2017 CLINICS

Next-generation Sequencing-based genomic profiling: Fostering innovation in cancer care?

Gustavo S. Fernandes I * , Daniel F. Marques I , Daniel M. Girardi II , Maria Ignez F. Braghiroli I II , Renata A. Coudry I , Sibele I. Meireles I , Artur Katz I , Paulo M. Hoff I II

Centro de Oncologia, Hospital Sirio Libanes, Sao Paulo, SP, BR

Instituto do Cancer do Estado de Sao Paulo, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR

*Corresponding author. E-mail:

received March 28, 2017; revised May 23, 2017; accepted May 23, 2017.



With the development of next-generation sequencing (NGS) technologies, DNA sequencing has been increasingly utilized in clinical practice. Our goal was to investigate the impact of genomic evaluation on treatment decisions for heavily pretreated patients with metastatic cancer.


We analyzed metastatic cancer patients from a single institution whose cancers had progressed after all available standard-of-care therapies and whose tumors underwent next-generation sequencing analysis. We determined the percentage of patients who received any therapy directed by the test, and its efficacy.


From July 2013 to December 2015, 185 consecutive patients were tested using a commercially available next-generation sequencing-based test, and 157 patients were eligible. Sixty-six patients (42.0%) were female, and 91 (58.0%) were male. The mean age at diagnosis was 52.2 years, and the mean number of pre-test lines of systemic treatment was 2.7. One hundred and seventy-seven patients (95.6%) had at least one identified gene alteration. Twenty-four patients (15.2%) underwent systemic treatment directed by the test result. Of these, one patient had a complete response, four (16.7%) had partial responses, two (8.3%) had stable disease, and 17 (70.8%) had disease progression as the best result. The median progression-free survival time with matched therapy was 1.6 months, and the median overall survival was 10 months.


We identified a high prevalence of gene alterations using an next-generation sequencing test. Although some benefit was associated with the matched therapy, most of the patients had disease progression as the best response, indicating the limited biological potential and unclear clinical relevance of this practice.

Keywords: Molecular Profiling, Targeted Therapy, Precision, Refractory

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