Thursday , February 25 2021

Knowing in detail the genetic mutations helps to improve cancer treatments



Knowing in detail the genetic mutations of a person with cancer increases the chances of the patient living longer, have a better quality of life and better control of symptoms, said a specialist.

Dr. Jerónimo Rodríguez Cid said that this is possible today thanks to the genomic sequencing tests, a technique that allows to analyze the mutations that exist in the genes of the patients.

"It's a very powerful tool for the health professional because it helps the oncologist make decisions for patients that help them broaden and improve their quality of life," said the head of the National Institute of Chest Oncology Clinic to reporters. of Respiratory Diseases (INER).

The specialist explained that this technique identifies changes in the tumor's DNA through blood tests for cancer-related genomic changes.

The tests provide information on clinically relevant biomarkers and genomic changes.

The idea, he said, is to find those changes that help understand the origin of the disease and give a personalized treatment to patients with metastatic disease, which is no longer just chemotherapy as it was currently doing.

"Today we know that it is more effective to differentiate each type of cancer based on the type of DNA changes that lead to the development of the tumor," said the expert.

According to data from the Ministry of Health, between 2013 and 2018 in Mexico, there were 130,000 new cases of cancer per year, of which 75% were diagnosed in advanced stages.

The advantage of genomic sequencing, said Rodriguez Cid, is that it has a sensitivity of 98% and a specificity of 95%.

He explained that there are three tests, one of which analyzes and interprets 324 selected genes related to solid malignancies, another that analyzes 70 genes and another that analyzes 406 genes.

"With these tests, we can predict what kind of therapy and medication every patient requires," he explained.

Among the benefits, he said, is that the genetic change that the patient has can be diagnosed correctly.

Similarly, it helps detect the instability of microsatellites, which refers to when genes that must repair the genetic mutations that occur in humans do not work.

"In cases where patients have this condition, they are known to respond better to immunotherapy," which helps oncologists "not go blind in treating patients."

In cases of unknown primary cancer, when the cause of the disease is not found, the changes the patient has can be found with 60% accuracy and then begin to treat them more specifically.

This type of test is indicated primarily for cancer patients in the metastatic stage and may increase life expectancy by up to five years, sometimes with a prognosis of three months.

The study costs approximately $ 5,000 and is available only on a private level, takes approximately two weeks to get results and is distributed in the country by Roche's laboratory.

Although there are already genomic sequencing studies, the difference of these tests is that in addition to analyzing the genes, they interpret the results.

Finally, Rodríguez Cid emphasized the importance of having a comprehensive molecular diagnosis "and seeks that the treatment given to patients is correct."


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