Saturday , April 17 2021

Knowing genetic mutations in detail helps improve cancer treatments



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

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

"It is a very powerful tool for the health professional because it helps the oncologist to make decisions for patients that help them to extend and improve their quality of life," he told reporters, the head of the " Thoracic Oncology of the National Institute of Respiratory Diseases (INER).

The specialist explained that this technique identifies alterations in the tumor DNA through blood analysis in the search of cancer-related genomic disorders.

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

The idea, he said, is to find these alterations 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 being done at the moment.

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

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

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

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

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

Among the benefits, he said, it is that the genetic alteration that the patient can diagnose correctly.

In the same way, it helps to detect microsatellite instability, which refers to when genes that have to 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 the oncologists "do not go blind in the treatment of patients."

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

This type of evidence is indicated mainly for patients who have cancer in the metastatic stage and can increase their life expectancy up to five years, when sometimes the prognosis is three months.

The study costs approximately $ 5,000 and is available only on a private basis, it takes approximately two weeks for results and is distributed to the country by the Roche laboratory.

Although genome sequencing studies already exist, the difference in these tests is that in addition to analyzing genes they interpret the results.

Finally, Rodríguez Cid emphasized the importance of having an integral molecular diagnosis "and looking for the treatment offered to patients is the correct one".


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