LivingGenetic portrait of a tumor

Genetic portrait of a tumor

Imagine that you or someone close to you is detected cancer. Until now, both to make the diagnosis and to decide on the treatment, a fragment of the malignant tissue was extracted and observed under the microscope , which was complemented with other tests depending on the type of ailment. All this process served to put a name and surname to a tumor and see how it could be addressed.

We are currently entering a new phase. Through a sample, specialists can perform genomic sequencing, a technique that allows obtaining complete information on cellular DNA and, therefore, a much more detailed portrait of the disease. Thanks to this test, alterations present in the tumor can be detected, which makes it possible to treat the patient with precision cancer therapies.

As various studies are showing, these types of techniques are more effective and produce fewer adverse effects in patients than conventional ones.

Roughly speaking , this precision test seems simple: after extracting the sample from the patient, it is prepared with the help of different machines in a laboratory of the American company Foundation Medicine , the only one that performs next-generation genomic sequencing (NGS , for its acronym in English).

The tumor tissue fragment is then integrated into a special plate, which in turn is inserted into a computer that has specialized software capable of analyzing genes in detail.

Thanks to this intervention, detailed information is obtained on the molecular alterations contained in the tumor and to what extent each of them is expressed; Identifying these variations is key to understanding how cancer cells grow and proliferate. In addition, the sample is also conventionally examined under a microscope, so that specialists can visualize the morphology and alterations of the tumor.

Purpose of genomic sequencing tests

Genomic sequencing tests have a dual purpose. The first is none other than knowing whether a patient is prone to developing a certain type of cancer ; and secondly, it consists of, once the diagnosis is made, specifying what type of condition we are dealing with .

In addition, the first application is especially useful for detecting the disease in its early stages: if a theoretically healthy person undergoes genomic sequencing, specialists will be able to analyze the sample to detect the genes that predispose to the disease. When any of these clues are found, the doctors will schedule periodic consultations with the patient to control whether the cancer manifests itself or not.

Minimally invasive tests, such as a liquid biopsy, which is done by drawing a blood sample, can help experts reveal the presence of malignant cells. In the event that we are faced with a positive diagnosis, genomic sequencing would be applied directly to the cancerous tissue. In this way, it is possible to identify whether there is one or more predominant alterations within the tumor, and thus choose the most appropriate therapy.

Cancer of unknown primary origin

These tests are useful in many tumors, but there is one modality in which they are especially beneficial. We refer to those of unknown primary origin, which present a main difference from the rest: we do not know where in the body the cellular process by which cancer is triggered is generated, even if it invades one or more parts of the body. Only with more complex complementary examinations can this origin be determined at times. The advantage of precision oncology is that it does not take into account the location, but the alterations present in the tumor. For this reason, genomic sequencing would make it possible to treat this type of disease without the need for other tests.

Another crucial issue in precision oncology is data records: the greater the volume of information on a certain type of cancer, the more experience accumulated to be able to apply it to the treatment of new cases. In this matter there is a factor to take into account: data protection.

In this sense, experts from the Foundation Medicine highlight two fundamental aspects. First, you must have the express consent of the patient to include the details of their sequencing in a database; and secondly, it is necessary to preserve anonymity and harmonize all this information to store it and simplify its interpretation when necessary. Both the medical community and the entities that carry out these analyzes demand that a regulation be developed that helps protect patients, and, in the same way, allows these data to be collected and stored with a regulation as a basis.

By Nieves Sebastián


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