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Updated: Sep 2, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Ordering and Interpreting Precision Oncology Studies for Adults With Advanced Solid Tumors: A Primer
Bruce Montgomery1,2, Sunny Wang3,4, Matthew Rettig5,6
1Veterans Affairs Puget Sound Health Care System, Seattle, Washington.
Background:
The promise of precision oncology can only be realized when genetic alterations are identified that can be leveraged to improve response and minimize toxicity. Identifying those alterations requires the knowledge to order the right test and to interpret the results correctly. This primer is designed to help clinicians order the appropriate testing for patients with specific malignancies and to give them an informed approach to interpretation.
Observations:
Germline DNA is usually acquired from peripheral blood, buccal swab, or saliva collection in patients with a metastatic malignancy and can provide treatment options otherwise not available. However, germline testing does not indicate alterations that arise solely in tumor tissue. Somatic testing may be performed on primary tumor, metastatic biopsy, or circulating tumor DNA when the alteration is present at the time that the tumor developed and expected to be carried through the evolution of the tumor.
Conclusions:
The rapid growth in technology and ability to enhance understanding of relevant tumor biology continues to improve the therapeutic landscape for individuals dealing with malignancy as does our ability to find targetable genetic alterations with the potential for meaningful clinical benefit.
Insights
Precision oncology relies on identifying genetic alterations for better cancer treatment. This guide helps clinicians select and interpret genetic tests for improved patient outcomes and reduced toxicity.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Precision oncology aims to tailor cancer treatments based on individual genetic profiles.
- Accurate identification and interpretation of genetic alterations are crucial for effective treatment selection.
- Clinicians need guidance to order appropriate genetic tests and understand their results.
Purpose of the Study:
- To provide a primer for clinicians on ordering and interpreting genetic tests in oncology.
- To enhance the understanding of germline and somatic testing for malignancies.
- To support informed decision-making in precision cancer care.
Main Methods:
- Review of germline DNA testing procedures (blood, buccal swab, saliva).
- Explanation of somatic testing on tumor tissue or circulating tumor DNA.
- Discussion of the clinical utility of genetic alterations in cancer.
Main Results:
- Germline testing offers unique treatment options but doesn't detect tumor-specific alterations.
- Somatic testing identifies alterations present from tumor development.
- Technological advancements improve the identification of targetable genetic alterations.
Conclusions:
- Realizing precision oncology depends on identifying actionable genetic alterations.
- Knowledge of genetic testing is essential for improving treatment response and minimizing toxicity.
- Advancements in understanding tumor biology enhance the therapeutic landscape for cancer patients.
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