In 2015, a group of researchers brought together 2,748 different studies looking at 17,804 traits in a population of more than 29 million twins. These investigations explored things as disparate as blood pressure, immune problems, the shape of the ears, social values or culinary tastes. And the conclusions were surprising: each and every one of the 17,000 traits studied were heritable to a greater or lesser extent.
That is, genetics has to do with everything and especially with medical pathologies. However, except for very specific things, looking at a sequenced genome does not tell us much about most problems, traits or diseases of our day to day life. The reason is simple: if genetics were a language, humanity would still be getting the A1.
Nevertheless, the NHS (the British health system) is running an experiment of “personalized medicine” in the northeast of England that aims to solve partially this problem.
The secrets of genetics at the service of medicine
“Through the use of genetics, we can improve the prediction of cardiovascular disease risk so that therapies such as statins, as well as changes in lifestyle, can be directed to the right people, “explained in the Times Professor Sir Peter Donnelly, founder and CEO of ‘Genomics’, the spinoff of the University of Oxford that collaborates with the NHS in the implementation of the project, although, rather than as a statement, we should understand it as a hypothesis to be tested.
After all, the researchers will select a thousand patients who will use millions of genetic markers that will be crossed with all kinds of risk factors (age, family history, lifestyle …) to produce what is called a “polygenic risk score” and examine whether these types of approaches can be used to ‘predict’ disease cardiovascular (and to adjust treatments).
Why heart disease? For a question of potentiality. Although, according to the researchers, this type of approach could be used in other diseases (such as breast, prostate and skin cancer, type 2 diabetes or bipolar disorder), the truth is that cardiovascular diseases are the leading cause of death in the world. Of every 100 people who die in the world, at least 27 do so for her, according to the WHO.
In fact, the NHS believes that introducing this genomic “screening” (if it works) could help identify 650,000 people between the ages of 40 and 60 at high cardiovascular risk. Of them, 10% would develop diseases in the next 10 years. His bet is that, if they manage to “go from reactive to preventive treatments”, these mechanisms could reduce more than 15,000 cases of disease and prevent more than 2,000 deaths in a decade.
We are approaching a very complicated moment in the technical development of genetics in which our genetics will become a very powerful tool to take care of and improve our own health. And, at the same time, a risk that could collide with human rights and radically change our health systems. This will be one of the great debates of the future; What happens is that we already have that future on top of us.
Picture | Ian Taylor