NGS tests for cancer: what they are and what they are used for

NGS tests for cancer: what they are and what they are used for

When a person receives a cancer diagnosis, it's normal to want to know more about the disease and, above all, to understand what information can help the specialist make decisions. In this context, the NGS tests for cancer They have become an important tool within precision medicine, because they allow the study of multiple genetic and molecular characteristics of a tumor.

But what does NGS mean? What exactly does it analyze? How is it performed? What information can it provide, and who can benefit from this type of study?

Understanding this is the first step in knowing when a genomic study might make sense within a patient's evaluation.

What does NGS mean?

NGS means next-generation sequencing, for its acronym in English Next Generation Sequencing. It may also be found as next-generation sequencing, massively parallel sequencing, or latest-generation sequencing.

According to the National Cancer Institute of the United States (NCI), Next-generation sequencing comprises different methods that allow the order of the basic components of millions of fragments to be determined. DNA (deoxyribonucleic acid) y RNA (ribonucleic acid) at the same time.

Simply put: we can imagine DNA as a huge instruction manual. NGS technology allows us to read millions of fragments of that "manual" simultaneously and use computer tools to reconstruct and analyze that information.

In cancer, this can allow the study of different genes and tumor-related alterations within the same analysis, depending on the study used.

It is important to clarify that NGS is not a single test. It is a technology that can be used in different types of genomic studies, with different objectives, genes analyzed, sample types and levels of depth.

That's why, when we talk about NGS tests for cancer, Actually, we're talking about different studies that use this technology to obtain molecular information about a disease.

What does an NGS test for cancer analyze?

Cancer originates from changes in cells. Some of these changes affect the genetic material and can influence how cells grow, divide, survive, or respond to certain treatments.

An NGS study can look for different types of genetic alterations depending on its design.

These include:

  • Changes in a single letter of DNA, known as single nucleotide variants.
  • Insertions and deletions of small regions of DNA.
  • Alterations in the number of copies of certain genes.
  • Genetic fusions or rearrangements.
  • Certain alterations in genes related to the development or behavior of cancer.
  • Specific biomarkers, depending on the panel used.

Some studies can also provide information on biomarkers such as TMB (Tumor Mutational Burden) wave MSI (Microsatellite Instability).

Not all NGS studies look for the same alterations. Some analyze a specific group of genes, while others use much broader panels.

Therefore, the number of genes analyzed should not be considered in isolation. What is important is that the study is appropriate for the clinical question the physician is trying to answer.

What are NGS tests used for in cancer?

One of the main applications of NGS testing for cancer is to perform a tumor genomic profile.

Genomic profiling seeks to understand certain molecular characteristics of tumor cells that can complement the information obtained through other studies.

He National Institute of Genomic Medicine (INMEGEN) It notes that the analysis of potentially actionable mutations in tumors can be useful for individualizing decisions related to treatment selection, response monitoring, and prognosis guidance.

Depending on the study and the clinical context, the information obtained can help the specialist to:

  • To better understand the molecular characteristics of the tumor.
  • Identify specific genetic alterations.
  • Detect relevant biomarkers.
  • Consider whether there are potentially actionable alterations.
  • Complement other diagnostic studies.
  • Supporting decisions related to precision medicine.
  • In certain cases, identify information that may guide further studies.

This does not mean that an NGS test alone determines what treatment a person should receive.

Genomic information is one piece within a much larger picture.

What benefits can NGS tests have for cancer?

The NGS tests for cancer They allow the study of multiple genes and tumor alterations in a single analysis. Among their main benefits are:

1. To better understand the tumor

They allow the identification of genetic alterations that help to understand the specific molecular characteristics of cancer.

2. Analyze multiple genes at once

Instead of necessarily studying one gene separately, certain NGS panels allow the analysis of dozens or hundreds of genes simultaneously.

3. Identify relevant biomarkers

They can detect alterations that, depending on the type of cancer and the available evidence, may be relevant for evaluating certain treatment options.

4. Support treatment selection

The results can provide information for the oncologist to evaluate targeted therapies, immunotherapy, or other alternatives when there is a clinical indication related to the findings.

5. To provide information for precision medicine

They allow the molecular characteristics of the tumor to be incorporated into the patient's evaluation, along with their diagnosis, stage, history, and other studies.

6. Obtain a more complete molecular view

In addition to identifying mutations, certain studies can analyze alterations such as fusions, copy number changes, TMB (tumor mutational burden) o MSI (microsatellite instability).

7. Guide further studies

In some cases, certain findings may lead the specialist to consider other studies, such as a hereditary genetic test.

Important: An NGS test does not, by itself, determine the treatment or guarantee a therapeutic option. Its value lies in providing molecular information that the specialist can integrate with the rest of the patient's clinical information.

He National Institute of Genomic Medicine He highlighted the role of next-generation sequencing technologies in the development of precision medicine and their application in diseases such as cancer.

How is an NGS test for cancer performed?

Although the process may vary between laboratories and studies, it generally involves several stages.

1. Obtaining the sample

The first step is to obtain the biological material that will be analyzed.

Many cancer studies use a sample of tumor tissue obtained previously through a biopsy or surgery.

Depending on the test, blood may also be used to analyze tumor-related DNA. This type of strategy may be part of a liquid biopsy, which allows the search for circulating tumor genetic material in the blood.

The appropriate sample depends on the type of cancer, the study requested, and the information sought.

2. Extraction of DNA or RNA

Once the sample arrives at the laboratory, the genetic material to be analyzed is extracted.

In the case of tumor tissue, the quantity and quality of available tissue and the proportion of tumor cells present can also be assessed.

This is important because a genomic study needs to have sufficient material of adequate quality to be able to perform the analysis.

3. Sample preparation

The DNA or RNA is prepared so that it can be processed by the sequencing platform.

Depending on the methodology used, different processes can be carried out, such as fragmentation, amplification, library preparation, and enrichment of specific genetic regions.

4. Sequencing

This is where one of the central stages of NGS technology takes place.

The sequencing platform analyzes millions of fragments of genetic material in parallel.

Subsequently, the data obtained are processed using bioinformatics tools.

The bioinformatics It is fundamental in this process because it allows organizing enormous amounts of information and comparing it with reference sequences to identify possible alterations.

5. Bioinformatics analysis

The data generated during sequencing are not, in themselves, the clinical outcome.

Specialized algorithms and tools are used to identify variants and determine which ones may be relevant according to the criteria established by the study.

This stage requires a combination of knowledge of genetics, molecular biology, computer science, and data analysis.

6. Interpretation and report

Finally, the findings are integrated into a report.

The report may include the alterations found, certain biomarkers, and other relevant information depending on the characteristics of the study.

It is important to make a clarification here: Identifying a genetic alteration does not automatically mean that a treatment is available for it..

The clinical relevance of a finding depends on the type of cancer, the patient's characteristics, the available scientific evidence, existing treatments, and other clinical factors.

For this reason, the result must be interpreted by the treating physician.

Do all cancer patients need an NGS test?

No.

This is one of the most important considerations.

There is no single NGS test that is suitable for all patients or all types of cancer.

The usefulness of a study depends on factors such as:

  • Type of cancer.
  • Stage of the disease.
  • Tumor characteristics.
  • Previous treatments.
  • Objective of the analysis.
  • Biomarkers that are to be investigated.
  • Sample quality and availability.

Therefore, before requesting a genomic study, it is important to define what clinical question you want to answer.

In some patients, analyzing a specific group of genes may be relevant. In other cases, a broader panel may be considered.

The number of genes analyzed does not, by itself, determine the clinical usefulness of a test.

Is an NGS test the same as a hereditary genetic test?

Not necessarily.

This difference can be especially important for patients.

A test of tumor genomic profile It primarily looks for alterations present in cancer cells. Many of these alterations may have developed during the formation and evolution of the tumor and are not necessarily present in all cells of the body.

A hereditary genetic test, on the other hand, looks for genetic variants that may be present from birth and that, under certain circumstances, may be related to an inherited predisposition to developing certain types of cancer.

Therefore, A result obtained in a tumor should not automatically be interpreted as evidence of hereditary cancer..

In certain situations, a finding identified through tumor analysis may lead the physician to consider additional hereditary genetic evaluation.

This distinction is important because the results can have different implications for the patient and, in some cases, for their family members.

What role does NGS play in precision medicine?

For many years, cancer was classified primarily according to the organ where it originated, its microscopic characteristics, and its stage.

These elements remain fundamental.

However, today we know that tumors can also exhibit significant differences at the molecular level.

Two people with the same type of cancer can have different genetic alterations.

Next-generation sequencing allows us to study some of these differences.

In Mexico, institutions such as the National Cancer Institute (INCan) They have incorporated NGS platforms and bioinformatics processes to advance the molecular characterization of solid tumors within precision medicine strategies. The Ministry of Health reported in 2026 that the first NGS sequencing assays on solid tumors developed at the INCan meet international quality standards at the molecular and clinical levels.

Furthermore, INMEGEN has highlighted the role of NGS technologies in the development of precision medicine tools in Mexico.

Mexican scientific evidence has also documented the use of NGS to study mutational profiles in Mexican patients with different types of cancer. For example, research published in Public Health of Mexico He analyzed 48 cancer-related genes in Mexican patients with non-small cell lung cancer using next-generation targeted sequencing.

Why might it be important to know the molecular profile of a tumor?

Cancer is not a single disease.

Even within the same type of cancer, there can be significant differences between one tumor and another.

Knowing these characteristics can help the specialist to better understand the disease.

In certain cases, identifying a molecular alteration can provide relevant information for evaluating specific therapeutic options.

In other cases, the result may not identify an alteration with a clear therapeutic implication.

Both possibilities are part of the reality of genomic medicine.

Therefore, the value of the NGS tests for cancer The goal is not to promise an answer for every patient, but to provide molecular information that can be interpreted within the appropriate clinical context.

How to access an NGS test in Mexico?

The first step is to talk to the doctor who is handling the case.

The specialist can determine if a genomic study is indicated, what type of sample can be used, and what information would be relevant for the patient's evaluation.

In Zogen, We facilitate access to genomic diagnostic solutions for cancer., connecting healthcare professionals and patients with specialized studies from international laboratories.

Our work includes managing applications, administrative processes, coordinating samples and logistics, to facilitate access from Mexico to advanced genomic diagnostic technologies.

Because behind each sample there is much more than DNA.

There is a person who seeks to better understand their illness.

A closer look at cancer

The NGS tests for cancer They represent one of the tools that have allowed us to expand the way in which a disease as complex as cancer is studied.

Technology allows the analysis of millions of fragments of genetic material, the identification of certain alterations, and the conversion of that information into data that can complement medical evaluation.

But technology does not replace the specialist.

A genomic result needs context, interpretation, and clinical knowledge.

Therefore, when we talk about precision medicine, we're not simply talking about having access to advanced technology. We're talking about using the right information, in the right patient, and within the right clinical context.

Knowing more about a tumor doesn't mean having all the answers. It means having more information to ask better questions.

And in oncology, every relevant piece of data can be part of a more complete view of the disease.

If you are considering an NGS test for cancer, consult with the specialist managing your case to determine if this type of study is appropriate and which test can best answer the clinical question you are trying to resolve.

Zogen facilitates access to genomic diagnostic technology for cancer.

We're here for you, contact us.

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NGS tests for cancer: what they are and what they are used for

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