Related Experiment Video
Updated: Jun 9, 2026
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Does large scale DNA sequencing of patient and tumor DNA yet provide clinically actionable information?
1Advanced Technology Program, SAIC Frederick, Inc., NCI-Frederick, Frederick, Maryland 21702, USA. harristjr@mail.nih.gov
Abstract:
There have been several publications recently that reported DNA sequence alterations in human tumors. There are gene deletions, amplifications, point mutations, translocations, and other genome changes in these samples compared to normal controls. There is also considerable variation in the number of such changes seen in different cancers. Some of the changes particularly those that are mutations in genes driving cellular proliferation will be useful clinically and could be used to monitor disease. At the present time, however, there are more cost effective ways than whole genome sequencing to derive "clinically actionable information" from the molecular analysis of patients and their tumors when they come into the clinic. The number of clinical options available for patients stratified by molecular diagnostics may actually be limited more by the specific treatments available rather than by the ability to stratify the patients in the first place.
Insights
Recent studies reveal diverse DNA alterations in human tumors, including mutations and gene changes. While some genetic changes offer clinical insights for disease monitoring, cost-effective methods are currently preferred over whole genome sequencing for actionable information.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Human tumors exhibit a wide range of DNA sequence alterations compared to normal tissues.
- These genomic changes include deletions, amplifications, point mutations, and translocations.
- The frequency and type of alterations vary significantly across different cancer types.
Purpose of the Study:
- To review recent findings on DNA sequence alterations in human tumors.
- To discuss the clinical utility of identified genetic changes for disease monitoring.
- To evaluate the cost-effectiveness of different molecular analysis methods for deriving clinically actionable information.
Main Methods:
- Review of recent publications on tumor DNA sequencing.
- Comparative analysis of genomic alterations in tumor versus normal samples.
- Assessment of current molecular diagnostic approaches for clinical application.
Main Results:
- Significant variations in the number and type of genomic alterations are observed in different cancers.
- Specific mutations in genes driving cellular proliferation hold potential for clinical utility and disease monitoring.
- Current cost-effective molecular analysis methods are more practical than whole genome sequencing for obtaining clinically actionable information.
Conclusions:
- While numerous DNA alterations occur in tumors, their clinical utility is often limited by available treatments.
- Stratification of patients based on molecular diagnostics may be constrained by existing therapeutic options.
- Further research is needed to integrate genomic findings into effective clinical strategies and treatment selection.
More Related Videos
11:15Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
13:24Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
