A large genome map in Galicia will analyze the DNA of 15% of the population to predict diseases

The DNA of 15% of Galicians will form part of a large data bank that will be available for researchers to trace the origin of diseases in genes. The so-called Xenoma Project begins a pilot phase this month to collect the first 2,000 samples, but hopes to gather a total of 400,000 in the next five years to create a large map of the Galician genome. The first results will materialize in the second quarter of 2025, when the participants in this initial phase will know if they have any genes associated with familial hypercholesterolemia, hereditary breast and ovarian cancer or Lynch syndrome, also linked to tumors.

The project is developed by the Galician Foundation of Xenomics Medicine – dependent on the Ministry of Health – and its director, the expert geneticist Ángel Carracedo, presented it as “unique in the world due to its size” within medical research to better predict diseases. of the population and develop adapted drugs. The idea of ​​creating a biobank with genetic information to characterize the population is not being developed for the first time in Galicia. The reference cited by those responsible is the United Kingdom biobank (UK Biobank), which has mapped the DNA of 500,000 people.

The scientific coordinator of the Xenoma Project, María Brión, explains that the objective is to know the genetics of the Galician population to predict the risk of certain diseases and implement personalized medicine strategies. The expert emphasizes that the better the population is categorized, the more accurate these forecasts will be and the progress will be made in rare diseases, but also in common ones.

In Galicia, samples will be obtained from 400,000 people between 35 and 70 years of age, with the same representation of women and men. The choice is random, independent of medical history or family history. The only requirements are to be within that age range, to be included in the community’s public health system and to have the capacity to sign the informed consent. Genetic data will be extracted from all these people and incorporated into the Galician biobank. And 100,000 of them will also be asked to provide blood, which will be stored with plasma and serum separately for future studies. The budgetary limitation is what explains why this biological sample will be saved in only one out of every four participants.

Authorization of the ethics committee

The first steps of the study begin with a pilot experience that includes 2,000 Galicians. 1,000 of them have been scheduled for December 14 and 21 to extract that blood sample. In the first months of 2025, the rest of the participants in this first group will continue, who must give a saliva sample, and the forecast is that the first evaluation will be done in the first semester. The initial phase will screen only nine genes, explains María Brión. Each study in which the genetic information collected is used will require authorization from the ethics committee, which, for the moment, has approved that researchers only search for those genes related to familial hypercholesterolemia, hereditary breast and ovarian cancers. and Lynch syndrome. We do not start here because there is a greater risk in the Galician population, but because there is solid evidence of the link between these variants and diseases.

The idea with this pilot phase is to check the response of the citizens who are mentioned – “very good”, according to Brión – and detect possible deficiencies before moving on to “the big project” and reaching 400,000 Galicians. In total, the researchers will work for five years to include that number of participants, so that it is foreseeable by 2030 that results from large-scale mapping will begin to be known. In this initial screening for the diseases already mentioned, participants will receive information within six months and this data will be incorporated into the medical history. That is, if the genetic variation is found related, for example, to hereditary breast cancer, that person will be referred to a doctor to check if they have already developed the disease and give them treatment. If you have not developed it, specific controls will be carried out.

The scientific coordinator of the project emphasizes that finding one of the variants is not a diagnosis: “It does not mean that you have breast cancer, but it does mean that you have an increased risk and a study and mammograms can be done.”

Next phases

When the bank is created, researchers – from Galicia or outside Galicia – can propose new screenings or other studies with all the information provided by the DNA. In the future, Brión assures that the objective is to “carry out many studies” and develop “what are called polygenic risk estimates,” in which the risk of a common disease associated with the accumulation of more than one genetic variant is seen. Each one on its own, he adds, is not indicative of a risk, but when several of them are added together, they do increase the chances of developing a certain disease.

This enormous amount of data is “a super valuable source” to advance knowledge of genetic disease and personalized medicine, emphasizes the researcher, who returns to the example of the UK Biobank, which “has helped a lot to improve” in these fields.

The processing of sensitive data

The study is based on very sensitive information: the DNA of hundreds of thousands of people. The person responsible for data protection is Sergas, which will apply a system by which the information will be pseudonymized and only the public health itself will be able to have access to the name of each participant when incorporating the results into the medical record. When information is transferred to third parties, it will be anonymized.

In the invitations that the Galician public health system is sending by SMS, a link is included with the project data and with documentation of informed consent. Those who agree to participate – it is voluntary – can decide if they want to know the results, if they authorize their data to be incorporated into the biobank or if they give permission for it to also be transferred to the structures of the European data space. For each new study that is proposed and that is not anonymized, consent will be requested again from those who have provided their samples.

As a limit for research, María Brión points to the question of whether there is the possibility of intervening to cure or stop the disease. “With this data we could try to predict the risk of some diseases that are not treatable. At an ethical level we have to assess whether it is interesting, or if a particular person would be interested, in knowing the risk of a disease against which we cannot take action. I don’t think so, that on an ethical level it doesn’t make sense to do so,” he reasons.

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