The use of genomic chips at birth will become a common method to predict diseases in about ten years, according to the experts gathered last weekend at the Cicerone conference, organized by the Spanish Society of Cardiology (SEC) and the National Center for Cardiovascular Research (CNIC) at the Casa del Corazón (Madrid).

In this meeting, specialists have focused on the great revolution that new technologies in genetics are assuming for cardiology and medicine in general, getting, step by step, transform it into predictive, preventive, personalized and participatory, instead of reactive, "as it has been until now in most cases", explain .

The genomics, which studies the mutations of our genes, is the most advanced technology. At this time, thanks to it, it is already possible to detect millions of genetic variations in each individual and analyze their association with the risk of cardiovascular diseases or any other type of common disease.

Using genomic chips, the ability to predict risk is very high (70%) for diseases caused by the mutation of a single gene, such as, for example, hypercholesterolemia. For the other common forms of cardiovascular disease: obesity, diabetes, etc., current knowledge only predicts 10% of genetic risk.

"This is due to the fact that we are still using genetic screening for the identification of relevant mutations that are not very dense (between one and two million mutations)," explains the researcher from the National Center for Cardiovascular Research (CNIC) and director of the Nutrition and Nutrition Laboratory. Genetics from Tufts University (United States), José María Ordovás.

These chips will allow sequencing the genome of any individual and detect all the mutations present, predicting in a fairly accurate way their genetic risk of cardiovascular diseases (or other genetic contribution)

In about ten years, these chips will allow sequencing the genome of any individual and detect all the mutations present, predicting in a fairly accurate way their genetic risk of cardiovascular diseases (or other genetic contribution).

At this time it is estimated that the genomic study will be routine at birth, forming part of the patient's medical record, in order to have this information when making many therapeutic decisions in the future, as the sequence of our genome does not It varies with age. "However, for this to take place, it is necessary to level not only technical and cost aspects, but also the ethical aspects of access to that personal information," says Ordovás.

The genomic chips are used experimentally as a research method, although in some less common pathologies they also have clinical application. Currently, this service can only be obtained in specialized centers in our country, since its use is still not extended to general hospitals.

How the risk of disease is detected

The operation of this technique is very simple, since the individual only has to provide a little saliva in a cotton, impregnating it with cells inside the mouth. From this sample, the DNA that is subsequently introduced into the chip containing tens, hundreds, thousands or millions of probes is extracted (depending on the model) and, from here, the risk of suffering from a disease is analyzed.

"These genetic analyzes should be limited to those with a family history or with a high risk detected by more classical methods," says Ordovás.

Even so, the expert considers important to consider that genetics does not work in isolation in terms of providing risk or protection over a disease, but interacting with environmental factors such as diet, physical activity or stress.

"Genomics and other omics will be used to select those most likely to suffer from the disease and to perform a more intense and personalized prevention on them, and in the case of other less common heart diseases, it will be possible to detect them before their clinical manifestation. act accordingly with prevention, with drugs or with surgical interventions ", says Ordovás.

According to the expert, "all these advances will change the way in which new generations of researchers will carry out their work". For this to happen in a solid and orderly manner, "it is essential that the programs of the faculties include training in these new technologies and their applications, especially strengthening the area of ​​preventive medicine," he concludes.


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