Five things that can do genetics for health

We still play for Science Fiction as related to Genetics, DNA manipulation … They come to the head of series B and comics where mutations ultimately create deviations or superheroes. And not all of that. 19 years ago, the human genome was not even unraveled, that intimate ‘map’ that carries all our instructions: of whom our ancestors are to the amount of chemotherapy that we can tolerate.

But in these two decades the genetics has been produced in such a way that it starts to ‘jump’ the loneliness of the most advanced laboratories to medical routine. “Applications are almost infinite”Reports Julio Rodríguez, Doctor or Molecular Medicine, biologist and deputy laboratory for genetic diagnosis of the Galician Public Foundation of Xenomic Medicine (FPGMX).

Here are five aspects in which genomic medicine – which use the information and their derivatives (RNA, proteins and metabolites) for decision -making – will help us a lot. Some are already underway, although they will evolve spectacularly in the coming years.

You can know which treatment will work with a patient or how many medicines can tolerate. All this reduces unwanted side effects and is a huge savings. And time is decisive in the evolution of many diseases. “Nowadays fully personalized pharmacological treatments are given according to the genetic profile of the patient, for example for cancer”Julio Rodríguez explains. «The medicine practiced so far was intuition. Now with the help of artificial intelligence and genetics, everything is changing, “says Manuel Corpas, a university expert in the clinical genetics of the International University of La Rioja and researcher in Cambridge. As confirmed,” will be in about 15 years “in about 15 years”, there is already necessary, now the costs are too lower, “he says.

Prenatal diagnoses from mother blood are widespread. With a sample that contains fetal cells, DNA is analyzed to know if fetus is a carrier of a serious illness. “And pre -inflatational diagnoses are also set for embryos to know if they are carriers of pathogenic mutations of high penetration and choosing those who are not,” Details of Rodríguez. A variation of high penetration, according to the medical lexicon, means that if you are a carrier, you have a very high risk, almost 100%, to inherit a functionIn this case, a disease suffers. Come on, you have almost, almost all tickets. That is why it is useful to know in advance.

This week it was published in the magazine ‘Nature’, a study in which they have adjusted a mutated gene in mice and primates to lower cholesterol levels. «In the case of being able to be used in people, It can be a remedy for monogenous family hypercholesterolemia »Rodríguez indicates. So, shall we eliminate diseases by making adjustments to DNA? The genetic edition about the patient will only be limited to some pathologies.

And can we change without risks? We still don’t know. «The biggest problem is that when editing a specific gene you do not edit others, which is called ‘off-target changes (outside the goal). In this study on cholesterol, they spoke that they had not detected ‘off-target’, which is very hopeful is-Añade Rodríguez. If these types of techniques could be used, it would certainly be great progress for medicines. Just remember ‘deleting’ mutations with disposal for cancer that if you are a carrier, they assume that you have a 95% risk to suffer … It would be huge». He then complains, those who want to change the color of the eyes or be higher, but that “in addition to the contents of ethical dilemmas would not be possible.” Because? Because these features intervene too many genetic variations to act, something that does not happen, luckily with many super -helditarian diseases, where you only have to act on a genetic variation, so that evil is deactivated.

When it comes to rare diseases, it always seems that it is a very, very unlikely lottery. Come on, that’s why they are called “rare.” However, if we get all the rare diseases in the world … “It appears that 6% of the total population suffers them”Indicates Manuel Corpas. In these cases, knowing the possibilities of transfer to your descendants is very important, as well as the risk that we must suffer if a family member had it. Although, is this for something? Little can be done if we are here and we have a high opportunity to suffer a terrible pathology. Isn’t it Damocles -Zwaard? “You have to acknowledge the law to know and not know,” says Corpas. For example, he has been analyzed in detail and has discovered many things, because almost everything in that manual is DNA. And some very curious. «I explained a few things. Physical education was always wrong. And I discovered that I had a mutation in a gene that it could ‘explain’ (you get more tired, you have less resistance …), because it is almost not -best in top athletes. It is something that affects between 15 and 20% of the population, ”says Corpas, who, like all experts in their area, always underlines that “Genetics circumstances, but does not determine.”

There are people with a strong genetic predisposition to suffer from a serious disease, of those who cause most people in the world, such as certain coronary hearts, tumors such as chest, type 2 diabetes or cerebral infarctions. Although genetics is ‘not everything, it is the’ hardware ‘of our body’, says Corpas, with a series of specifications and sensitivities that can then be the starting point to develop something or not, because lifestyle and other external factors also influence. At the moment, in very hereditary disorders, earlier monitoring and changes in the way of life can make a difference. A well -known example is that of actress Angelina Jolie, who underwent a double breast amputation because of the great risk of suffering in a breast tumor.

“Of Eliminate mutations that, for example, cause our cancer, or some cardiovascular disease, we will improve people’s life expectancy and grow quality. But the aging will not be overcome, because it depends on thousands of factors, all of which are interaction with each other, not only on three genetic mutations, as some gurus sell us. The sun, alcohol, stress, tobacco, sport that causes free radicals that damage DNA, cells when divided … Living causes mutations! And also breathing, but the alternative that is not to breathe is a less attractive path – says Rodríguez. We would accept much more that life is what it is, that it is ».