Related Experiment Video
Updated: Sep 13, 2025
11:15
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
24.5K
Utility of Germline, Somatic and ctDNA Testing in Adults With Cancer
Emily DeBortoli1, Ella McGahan1, Tatiane Yanes1
1Dermatology Research Centre, The Frazer Institute, The University of Queensland, Brisbane, Queensland, Australia.
Cancer Medicine
|August 1, 2025
Summary
Comprehensive genomic profiling (CGP) identifies actionable cancer variants in germline and somatic DNA. Matched therapies improve outcomes, but underutilization necessitates exploring CGP as a frontline test for better cancer care.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Comprehensive genomic profiling (CGP) has replaced historical genetic sequencing for cancer variants.
- CGP offers insights into cancer prevention, detection, and treatment strategies.
Purpose of the Study:
- To review international evidence on the clinical utility of CGP.
- To assess CGP's role in cancer prevention, detection, and treatment.
Main Methods:
- A narrative review synthesizing findings from 95 original research papers.
- Literature search across three databases for germline and somatic variants in adult cancers.
Main Results:
- Pathogenic germline variants found in ~10% of adult cancer patients; 53%-61% offered genotype-directed treatment.
- Actionable somatic variants identified in 27%-88% of cases, aiding diagnosis for unknown primary cancers.
- Matched therapies improved response and survival rates, though only 33%-45% of eligible patients received them. Circulating tumor DNA (ctDNA) assays show feasibility and sensitivity.
Conclusions:
- Matched therapies are underutilized, impacting patient outcomes.
- Further research is needed to establish cancer genomic profiling as a frontline diagnostic test.
