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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Genomic actionability and matched targeted therapy in a decade-long institutional precision medicine program for
R Dienstmann1, A Vivancos2, P Nuciforo2
1Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; University of Vic-Central University of Catalonia (UVic-UCC), Vic, Spain.
Background:
Precision oncology has evolved from concept to clinical reality, advancing cancer treatment and drug development in the last decade. However, disparities persist in patient access to comprehensive genomic profiling and matched therapies.
Materials And Methods:
This was a retrospective analysis of all patients enrolled in the Vall d'Hebron Institute of Oncology (VHIO) precision medicine program (PMP) between 2014 and 2024. Tumor profiling outcomes were reviewed, focusing on actionable alterations, classified by the European Society for Medical Oncology Scale for Clinical Actionability of Molecular Targets (ESCAT). Interpretation and therapy prioritization were standardized through regular multidisciplinary molecular tumor boards. Key performance indicators (KPIs) included the proportions of patients with ESCAT tier I-IV alterations and those receiving matched therapies, either via clinical trials or approved regimens. The analysis also considered advances in molecular diagnostics, such as liquid biopsies, and the evolving clinical trial portfolio requiring biomarkers.
Results:
From 2014 to 2024, 12 168 unique patients underwent 13 718 multi-gene molecular profiles at VHIO PMP. The detection rate of actionable alterations increased substantially over time, from 10.1% in 2014 to 53.1% in 2024, paralleling advances in drug biomarkers, sequencing technology, and broader use of assays. Overall, 10.1% of patients received molecularly matched therapies, rising from 1% in 2014 to 14.2% in 2024. Among patients with actionable alterations, 23.5% received targeted therapies, with annual rates ranging from 19.5% to 32.7%. Liquid biopsy integration notably enhanced actionable target detection and therapy access. The proportion of clinical trials with molecular inclusion criteria varied, starting at 40.2% in 2014 and dropping to 19.4% in 2020 before rising to 34.2% in 2024.
Conclusion:
Over a decade, VHIO's institutionally integrated PMP has enabled robust actionable alteration detection and access to matched therapies. Standardized KPI monitoring enables ongoing evaluation and sustainability of program performance. Continued innovation in diagnostics and molecularly guided trials is essential for further progress in precision oncology.
Insights
Precision oncology programs significantly improved actionable alteration detection and matched therapy access over ten years. Continuous innovation in diagnostics and trials is crucial for advancing cancer care.
Area of Science:
- Oncology
- Genomics
- Translational Medicine
Background:
- Precision oncology has advanced cancer treatment but faces disparities in genomic profiling and therapy access.
- The Vall d'Hebron Institute of Oncology (VHIO) established a precision medicine program (PMP) to address these challenges.
Purpose of the Study:
- To evaluate the VHIO PMP's performance over a decade (2014-2024).
- To assess the trends in actionable alteration detection and the utilization of matched therapies.
Main Methods:
- Retrospective analysis of patients in the VHIO PMP (2014-2024).
- Review of tumor profiling outcomes, focusing on European Society for Medical Oncology Scale for Clinical Actionability of Molecular Targets (ESCAT) classifications.
- Standardized interpretation and therapy prioritization via multidisciplinary molecular tumor boards.
- Key performance indicators (KPIs) included detection of ESCAT tiers I-IV alterations and receipt of matched therapies.
Main Results:
- Over 13,700 molecular profiles were analyzed in 12,168 patients.
- Actionable alteration detection increased from 10.1% (2014) to 53.1% (2024).
- Molecularly matched therapy use rose from 1% (2014) to 14.2% (2024), with 23.5% of patients with actionable alterations receiving targeted treatments.
- Liquid biopsies enhanced detection and therapy access; clinical trial eligibility criteria evolved.
Conclusions:
- The VHIO PMP demonstrated success in actionable alteration detection and matched therapy provision.
- Integrated programs with KPI monitoring are vital for sustained performance in precision oncology.
- Ongoing advancements in diagnostics and molecularly guided clinical trials are essential for future progress.
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