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Updated: Jun 2, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Usefulness of Comprehensive Genomic Profiling in Clinical Decision-Making in Oncology: A Systematic Review
Sewanti Limaye1, Jayesh Deshmukh2, Nitesh Rohatagi3
1Department of Medical Oncology, Sir H.N. Reliance Foundation Hospital and Research Centre, Mumbai, India.
Abstract:
Biologic factors limiting responsiveness to matched targeted therapies include genomic heterogeneity and complexity. Advanced tumors with unique molecular profiles can be studied by comprehensive genomic profiling (CGP) and enhance patient outcomes using principles of precision medicine. The clinical utility of CGP across all cancer types and different therapeutic interventions using overall survival (OS) and progression-free survival (PFS) data was studied in this systematic literature review. Randomized controlled, nonrandomized, and observational studies conducted in adult patients with advanced cancer, dated up to September 2022, were searched from PubMed and EMBASE databases following PRISMA guidelines. Of 14 CGP studies, 7 (50%) and 9 (64%) reported OS and PFS as an outcome, respectively. Improved OS and PFS were reported when CGP guided treatment decisions, but its clinical utility varied among cancer types. Treatments were assigned based on matching scores and with the involvement of molecular tumor board (MTB) enhanced OS and PFS. Patients following MTB recommendations had superior treatment outcomes compared with those on physician's choice regimens. CGP clinically benefited patients with genomically matched therapies and yielded better clinical outcomes regardless of cancer type. Further, uniform clinical value-based ranking of actionable mutations can encourage oncologists to use CGP tests for patients.
Insights
Comprehensive genomic profiling (CGP) guides precision medicine, improving survival outcomes in advanced cancers. Molecular tumor board recommendations enhance treatment efficacy, benefiting patients regardless of cancer type.
Area of Science:
- Oncology
- Genomics
- Precision Medicine
Background:
- Genomic heterogeneity limits targeted therapy response in advanced cancers.
- Comprehensive genomic profiling (CGP) analyzes unique molecular tumor profiles.
- Precision medicine principles aim to enhance patient outcomes through tailored treatments.
Purpose of the Study:
- To systematically review the clinical utility of CGP across diverse cancer types.
- To evaluate CGP's impact on overall survival (OS) and progression-free survival (PFS).
- To assess the role of molecular tumor boards (MTBs) in treatment decision-making.
Main Methods:
- Systematic literature review of randomized, nonrandomized, and observational studies.
- Searched PubMed and EMBASE databases up to September 2022, adhering to PRISMA guidelines.
- Included adult patients with advanced cancer, analyzing studies reporting OS and PFS.
Main Results:
- CGP-guided treatment decisions were associated with improved OS and PFS.
- Treatment outcomes were enhanced when guided by CGP and molecular tumor board recommendations.
- Clinical utility of CGP varied by cancer type, but overall benefit was observed.
Conclusions:
- CGP offers clinical benefits for advanced cancer patients receiving genomically matched therapies.
- Molecular tumor board involvement improves treatment outcomes compared to physician's choice.
- Standardized value-based ranking of actionable mutations could promote CGP adoption.
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