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Updated: Jul 16, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Retrospective analysis of real-world data to evaluate actionability of a comprehensive molecular profiling panel in
Karen Leroy1,2, Clarisse Audigier Valette3, Jérôme Alexandre1,4
1Université Paris Cité, Sorbonne Université, Inserm, Centre de Recherche des Cordeliers, Paris, France.
Introduction:
Considering the growing interest in matched cancer treatment, our aim was to evaluate the ability of a comprehensive genomic profiling (CGP) assay to propose at least one targeted therapy given an identified genomic alteration or signature (actionability), and to collect the treatment modifications based on the CGP test results in clinical practise for solid tumors.
Methods:
This retrospective, multicentre French study was conducted among 25 centres that participated in a free of charge program between 2017 and 2019 for a tissue CGP test. Data were collected on the patient, disease, tumor genomic profile, treatment suggested in the report (related to the genomic profile results) and subsequent therapeutic decisions according to the physician's declaration.
Results:
Among the 416 patients, most had lung cancer (35.6%), followed by biliary tract cancer (11.5%) or rare cancers (11.1%); 75% had a metastatic disease. The actionability was 75.0% (95% CI [70.6%-78.9%]) for all patients, 85.1% and 78.4%, respectively in lung cancer and metastatic patients. After exclusion of clinical trial suggestions, the actionability decreased to 62.3% (95% CI [57.5%-66.8%]). Treatment modification based on the test results was observed in 17.3% of the patients and was more frequent in metastatic disease (OR = 2.73, 95% CI [1.31-5.71], p = 0.007). The main reasons for no treatment modification were poor general condition (33.2%) and stable disease or remission (30.2%). The genomic-directed treatment changes were performed mostly during the first six months after the CGP test, and interestingly a substantial part was observed from six to 24 months after the genomic profiling.
Conclusion:
This French study provides information on the real-life actionability of a CGP test based on tissue samples, and trends to confirm its utility in clinical practice across the course of the disease, in particularly for patients with lung cancer and/or advanced disease.
Insights
Comprehensive genomic profiling (CGP) assays demonstrate significant actionability for targeted cancer therapies in solid tumors. Real-world data show CGP influences treatment modifications, particularly in advanced lung and metastatic cancers.
Area of Science:
- Oncology
- Genomics
- Personalized Medicine
Background:
- Growing interest in precision medicine and targeted cancer therapies.
- Need to evaluate the clinical utility of comprehensive genomic profiling (CGP) assays in solid tumors.
Purpose of the Study:
- To assess the actionability of CGP assays in identifying targeted therapy options based on genomic alterations.
- To collect data on treatment modifications resulting from CGP test results in routine clinical practice.
Main Methods:
- Retrospective, multicenter study involving 25 French centers from 2017-2019.
- Analysis of data from 416 patients undergoing tissue CGP testing.
- Data collected included patient demographics, disease characteristics, genomic profile, suggested treatments, and physician-declared therapeutic decisions.
Main Results:
- Overall actionability of CGP was 75.0%, higher in lung cancer (85.1%) and metastatic patients (78.4%).
- Actionability decreased to 62.3% when excluding clinical trial suggestions.
- Treatment modification based on CGP results occurred in 17.3% of patients, more frequently in metastatic disease (OR=2.73, p=0.007). Genomic-directed treatments were observed up to 24 months post-testing.
Conclusions:
- CGP assays demonstrate significant real-world actionability for targeted therapies in solid tumors.
- CGP utility is confirmed in clinical practice, especially for lung cancer and advanced/metastatic disease.
- Treatment modifications guided by CGP can occur over an extended period, highlighting its long-term value.
