A tumor profiling test analyses the genetic and molecular characteristics of a tumour to help doctors understand its biology and identify potential treatment options. Tumor DNA testing examines DNA changes in cancer cells that may influence how a tumour grows, responds to treatment, or develops resistance to certain medicines. These tests can support personalised cancer care by helping oncologists make treatment decisions based on the molecular features of an individual's cancer.

MedGenome offers comprehensive tumour genomic profiling services using next-generation sequencing (NGS), including tests designed to identify selected genetic alterations and biomarkers across different solid tumours. The appropriate test depends on the cancer type, available tissue or blood samples, previous treatments, and the clinical question being investigated.

Comprehensive Genomic Profiling Test

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What Is a Tumor Profiling Test?

A tumor profiling test examines the genetic changes and other molecular features of cancer cells. These changes, known as somatic alterations, can develop during a person's lifetime and may contribute to the development or progression of cancer.

Unlike a test that examines only one gene, comprehensive tumour profiling can assess multiple cancer-associated genes in a single analysis. Depending on the test, it may identify mutations, gene fusions, changes in gene copy number, and other biomarkers relevant to cancer care.

Doctors may use these findings to help classify a tumour, evaluate potential targeted therapies, assess eligibility for certain immunotherapies, or identify clinical trials for which a patient may qualify.

Tumour profiling does not guarantee that a suitable targeted treatment will be available. Its value depends on the alterations detected, the evidence supporting their clinical relevance, and the patient's overall medical condition.

What Is Tumor DNA Testing?

Tumor DNA testing focuses on examining the DNA associated with cancer cells to identify genetic alterations. It may be performed using a tumour tissue sample or, in selected cases, DNA fragments circulating in the bloodstream.

There are two common approaches.

Tissue-Based Tumor DNA Testing

In tissue-based testing, the laboratory analyses a sample obtained from a tumour biopsy or surgery. The sample may be preserved as a formalin-fixed, paraffin-embedded tissue block before being sent for molecular analysis.

This approach can provide information about genetic alterations present in the sampled tumour tissue and is commonly used for comprehensive genomic profiling.

Blood-Based Tumor DNA Testing

Blood-based tumour DNA testing, often called liquid biopsy, analyses circulating tumour DNA (ctDNA) in the bloodstream. Cancer cells can release small DNA fragments into the blood, allowing certain genetic alterations to be detected without collecting a new tumour tissue sample.

Liquid biopsy may be useful when tissue is unavailable, insufficient, or difficult to obtain. However, some tumours release very little DNA into the bloodstream, so a negative blood-based result does not necessarily rule out a relevant mutation.

The choice between tissue-based and blood-based testing depends on the cancer type, clinical situation, and the purpose of the investigation.

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Why Is a Tumor Profiling Test Recommended?

Doctors may recommend tumour profiling when understanding the genetic characteristics of cancer could influence diagnosis or treatment planning.

1. Identifying Targeted Treatment Options

Some cancers contain genetic alterations that can be targeted by specific medicines. Tumour profiling may identify these alterations and help the oncologist determine whether an approved targeted therapy is appropriate.

2. Understanding Cancer Biology

Different tumours can behave differently, even when they develop in the same organ. Molecular profiling provides additional information about the biological pathways involved in tumour growth.

3. Investigating Treatment Resistance

Cancer cells can develop new genetic alterations during treatment. Testing may identify certain changes associated with resistance and help doctors evaluate alternative treatment strategies.

4. Supporting Immunotherapy Decisions

Depending on the panel, tumour profiling may assess biomarkers such as microsatellite instability (MSI) and tumour mutational burden (TMB). These findings can help inform immunotherapy decisions in selected cancers, although treatment suitability depends on the complete clinical picture.

5. Exploring Clinical Trial Opportunities

Some genomic findings may help identify clinical trials investigating targeted medicines or other treatments. Eligibility depends on the study's specific requirements and the patient's condition.

Comprehensive profiling is most useful when the results can answer a relevant clinical question. Not every genetic alteration has an established treatment or a clear clinical significance.

Comprehensive Genomic Profiling Test

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What Can Tumor DNA Testing Detect?

The biomarkers detected depend on the laboratory method and the genes included in the selected panel.

Not every tumour profiling test assesses all these biomarkers. Some panels analyse DNA only, while others combine DNA and RNA testing to detect a broader range of alterations.

How Is a Tumor Profiling Test Performed?

The procedure depends on whether the test uses tumour tissue or a blood sample.

1. Doctor's assessment: The oncologist reviews the cancer diagnosis, pathology report, previous treatments, and the reason for molecular testing.

2. Sample collection or selection: The laboratory may use previously collected tumour tissue, a biopsy specimen, or a blood sample for liquid biopsy testing.

3. Laboratory analysis: The sample undergoes molecular testing, often using next-generation sequencing, to identify selected genetic alterations and biomarkers.

4. Report interpretation: The laboratory reports the findings, and the oncologist evaluates their relevance to treatment, prognosis, or further investigation.

Some tissue-based tests can use existing biopsy material, so a new biopsy may not always be necessary. However, the laboratory must confirm whether the available sample contains sufficient suitable tumour material.

Tumor Profiling Test by MedGenome

MedGenome offers comprehensive genomic profiling services for selected solid tumours through its TumorTrack testing portfolio. These services use next-generation sequencing to analyse multiple cancer-associated genes and identify selected molecular biomarkers.

Its published portfolio includes TumorTrack Advance, TumorTrack, and TumorFocus panel by NGS. The panels differ in their gene coverage, biomarkers, and intended applications.

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Some of the listed options include:

• TumorTrack Advance: A comprehensive panel covering more than 500 genes, with analysis of selected variants, copy number changes, gene fusions, TMB, MSI, and HRD.

• TumorTrack: A comprehensive tumour panel covering approximately 400 genes and selected genetic alterations.

• TumorFocus panel by NGS: A more targeted panel covering 77 genes and selected variants, copy number changes, and gene fusions.

MedGenome also lists OncoTrack CGP as a liquid biopsy option for comprehensive genomic profiling using blood samples. Its published information describes testing across 523 genes, with a stated turnaround time of 21 working days. Turnaround times and test specifications should be confirmed directly with the provider before testing.

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The right test depends on the cancer type, the available sample, the treatment question, and the biomarkers that need to be investigated. Patients should discuss the options with their oncologist rather than selecting a panel based solely on the number of genes it covers.

What Are the Benefits of Tumor DNA Testing?

Tumour DNA testing can provide valuable molecular information that may complement conventional pathology and imaging.

Personalised treatment planning: Results may help identify genetic alterations relevant to targeted therapies.

Broader molecular analysis: Multi-gene panels can examine several genes at once rather than testing each gene separately.

Additional information when tissue is limited: Blood-based testing may provide useful molecular information when a suitable tissue sample is unavailable.

Assessment of selected resistance mechanisms: Testing may identify genetic changes that could affect treatment response.

Support for clinical decisions: Molecular findings can help doctors assess treatment options, prognosis-related biomarkers, and possible clinical trial eligibility.

The benefits depend on the cancer type and whether the detected findings have established clinical relevance.

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What Are the Limitations of Tumor Profiling?

Tumour profiling has several important limitations.

First, not every cancer contains an alteration that can be matched to an available targeted treatment. Some detected variants have uncertain significance or insufficient evidence to guide treatment.

Second, tumour tissue from one site may not reflect every genetic change present in other cancer sites. Tumours can also evolve during treatment.

Third, liquid biopsy may produce a negative result when too little tumour DNA is circulating in the blood. In such cases, the oncologist may consider tissue-based testing if appropriate.

Finally, tumour profiling does not replace histopathology, imaging, or clinical evaluation. The findings must be interpreted alongside the patient's complete medical history.

Frequently Asked Questions

Is a tumor profiling test the same as a tumor DNA test?

The terms are related but not identical. Tumour DNA testing refers to analysing cancer-associated DNA, while comprehensive tumour profiling may include several types of genetic alterations and additional biomarkers.

Is tumor DNA testing performed using blood?

It can be. Blood-based testing analyses circulating tumour DNA. However, some tests require tumour tissue, and tissue-based analysis may be more appropriate in certain situations.

How much does a tumor profiling test cost in India?

The cost varies according to the test panel, sample type, number of genes analysed, and laboratory. Contact the provider for a current quotation and confirm what the test includes.

Can tumor profiling identify the best cancer treatment?

It may help identify treatment options associated with particular biomarkers, but it cannot guarantee a successful treatment. The oncologist must consider the cancer type, disease stage, previous therapies, and the evidence supporting each option.

Does MedGenome offer tumor DNA testing?

MedGenome offers tissue-based comprehensive tumour profiling and blood-based liquid biopsy testing options. The appropriate service depends on the patient's clinical needs and the availability of a suitable sample.

Conclusion

A tumor profiling test and tumor DNA testing can help doctors understand the molecular characteristics of cancer and identify genetic alterations that may influence treatment decisions. Depending on the test, the results may support targeted therapy selection, immunotherapy assessment, investigation of treatment resistance, or clinical trial evaluation.

MedGenome offers several genomic profiling options for selected solid tumours, including tissue-based and blood-based testing. The most suitable test depends on the cancer diagnosis, the clinical question, and the type of sample available.

Patients should discuss the potential benefits and limitations with their oncologist before proceeding. Tumour profiling can provide useful information, but it complements rather than replaces standard cancer diagnosis, treatment planning, and follow-up.

Medical disclaimer: This article is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.