Updated: Sep 25
Solid Tumor NGS panel test (tissue) is a test that finds a genetic mutation using a patient's tumor tissue sample and confirms the driver mutation for the use of a targeted therapy using the NGS test method.
Cancer is a genetic disorder that is characterized by abnormal cell division and growth due to genetic abnormalities such as point mutation, structural variation and copy number variation.
*Genetic disorder refers to diseases caused by genetic variants, and genetic variants can be classified as Germline (hereditary) and Somatic (non-hereditary).
Since most cancers are caused by multiple genetic changes than a single gene variation, Identifying and understanding changes in various genes is important for diagnosis, monitoring and prognosis of cancers.
Identifying Genetic Variant is Essential for Target therapy
Targeted therapy is one of the cancer treatments available that is approved by FDA for use in patients. There are also many clinical trials going on for development of novel targeted therapy.
In order to use such targeted therapy, Companion diagnostics is required to check if the targeted therapy is suitable for the patient.
Targeted therapy identify the cause of cancer in the patient through molecular genetic testing, enabling personalized medicine.
Target therapy: Drugs that target specific genes or proteins that are relatively more present in a cancer cell than a normal cell.
Personalized medicine: In the past, the same class of anticancer drugs were used without considering the different characteristics among patients. The drug may have therapeutic effect in some patients, but show no effect or even adverse side effects in others.
Recently, with the development of technologies, it became possible to confirm that even the patients with same carcinoma have different genetic variants.
Through personalized treatment tailored to individual's characteristics, the therapeutic effect can be maximized and side effects can be minimized.
What is Somatic Variant and How is it Classified?
The significance and classification of somatic mutation found follow the "Standards and guidelines for the interpretation and reporting of sequence variants in cancer"published on Journal of Molecular Diagnostics in year 2017. This guideline classify somatic variant into 4 tiers depending on the therapeutic, prognostic and diagnostic clinical significance.
Despite efforts to classify somatic mutations using multiple database, many Cancer Somatic Mutations still remain classified as a variant of unknown significance (VUS).
Considerations when selecting a Solid Tumor NGS Panel Test
The number of companies and institutions providing NGS panel test for solid tumor is growing rapidly. Below considerations can guide you to choose the most suitable test for your purpose and intent.
1. Types of Cancers covered by the NGS Panel
[Non-hereditary solid tumor, hematological cancer, hereditary cancer]
2. Types of Mutations that can be Detected through the NGS Panel
[Point Mutation, numerical and structural changes in gene or chromosomal level]
3. Target Area covered by NGS Panel
[Detected Region of the Gene]
4. Sensitivity of the NGS Panel
[How well the genetic variations are detected]
5. Reporting Criteria for Detected Variants
[What criteria will be used to classify and report a variant as pathogenic]
6. Reporting of Secondary finding
[Analysis and Reporting of genetic variants not related to the disease or is associated with ancillary diseases]
1. Zehir, Ahmet, et al. "Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients."Nature medicine23.6 (2017): 703.
2. Li, Marilyn M., et al. "Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists."The Journal of molecular diagnostics19.1 (2017): 4-23.
3. Tamborero, David, et al. "Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations."Genome medicine10.1 (2018): 25.
4. US Food and Drug Administration. "List of cleared or approved companion diagnostic devices (in vitro and imaging tools)."US Food and Drug Administration(2015).
5. Mandelker, Diana, and Liying Zhang. "The emerging significance of secondary germline testing in cancer genomics."The Journal of pathology244.5 (2018): 610-615.
Download the required documents through the link below!
This test can be performed upon request from a medical doctor.
#Cancer Test#Non-Hereditary Solid tumor#Cancer#Genetic Test#Precision Oncology#SomaticCancer#NGSpanel