The United Kingdom has the biological bank par excellence in the world. It occupies this position not only because it was the first, but also because of the volume of population on which it collects information: a total of 500,000 people. In Galicia, they have given themselves a period of Five years to obtain DNA samples from 400,000 Galicians.
“It is a very broad genetic study,” he admits to EL ESPAÑOL Maria Brioncoordinator of the Galicia Genome Project, defined by the prestigious geneticist Ángel Carracedo as “the most ambitious in the world”. Brión believes that placing it at such a high level is “saying a lot”, but she does agree with the first part: “It certainly has great ambition because of the enormous population cohort that it would represent, we are talking about 15% of the Galician population.”
There are some communities that have been ahead of them in the idea. In Cantabria, for example, they have been aiming to carry out a cohort with 50,000 individuals since 2021. Although last year they had already reached 30,000, they have not yet announced the genomic studies that will be carried out. In the Basque Country, a study has also been carried out to collect genomic data. “It is true that with such a large biobank and with the genomic study already planned, Yes, we are the first“, Brión boasts about this project that was born “more than a year ago.”
In reality, the objective was another: to carry out a personalized medicine strategy in Galicia. It was then that “the need to have a broad genomic characterization of the Galician population“. It will not be the same as the one known as UK Biobankbut they have taken into account the benefit of having a large cohort: “At a European level, the best estimates of genetic risk are predicted in the United Kingdom because they are based on genetic data.”
Age, the only requirement
For the first approach, they will carry out a screening for the genetic disorder that causes a high risk of developing three diseases: hereditary breast and ovarian cancer, Lynch syndrome e hypercholesterolemia familiar. These pathologies have been selected because they have a clear genetic component. As Brión points out, there are many more that also meet this requirement. But if they start with one, they should start with those in which they had already covered part of the path.
This is the case of breast cancer, for which genetic studies are already carried out, but only when there is a clinical suspicion or a family history. With the Genome Project, The intention is none other than to expand the population to see if they detect carriers of any of the risk mutations and thus anticipate the development of the disease.
“Diagnosing breast cancer at an advanced stage is not the same as diagnosing it at an earlier stage.” In Galicia, in fact, It was described at the beginning of the century a unique genetic mutation from the region which was implicated in breast and ovarian cancer. This discovery was made by a team from the Public Foundation for Genomic Medicine, the same institution that will be in charge of the genetic study of the pilot project, which will start with a sample of 2,000 participants.
Half of them will be asked for a saliva sample, while the other half will be asked for a blood sample. Once they have these, the first group will analyze the protein-coding region of the DNA. With the second, a whole genome sequencing.
Brión believes that the population will respond favorably if they receive the invitation. In fact, they plan to begin collecting samples from November and he assures that Volunteers have already written to them offering to participate.Although they do not rule out doing so in the future, in this initial phase of the study they have opted for a random selection to “evaluate the adherence of the different population groups.”
The only requirement that has been established has been in relation to age. That has been limited between 35 and 70 years old This is due to “two reasons.” On the one hand, they have not increased the limit because they consider that the older they get, the more difficult it would be for citizens to be able to participate.
And on the other hand, they have not chosen a younger population because in the study they intend compare genetic data with clinical historysince risk estimates cannot be based solely on genetics. They need other types of information – such as, for example, information about lifestyle – which they may not have in the case of those under 35.
Diseases that can be treated
Although the screening will provide the first results of the diseases already mentioned, Brión explains that the genetic data will be collected in the biobank. with the aim of new studies emergingwhich ‘imposes’ a requirement: that they deal with pathologies for which preventive measures can be taken to stop or treat them. “Nowadays, many genetic tests are offered for diseases for which we can know the risk, but not prevent their development,” he criticises.
He believes that the situation in Spain is not comparable to that in the United States, where there is less protection with regard to data protection and many companies offer this type of service. “Genetic data [del proyecto ‘Genoma Galicia’] They will not leave the system nor will they be able to identify a person,” says Brión.
In Europe, the possibility of creating a large repository of genomic data is still being considered. The Galician scientist is in favour of this initiative, since “the more data is shared, the better we will know the population and the more we will be able to advance in research.” She does not rule out the possibility of a genomic study of the population being carried out in Spain: “Personalised medicine is going in that direction, towards the categorisation of our variation to know what risks we have and to be able to take preventive measures.”
