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Monday, November 28, 2022

Genomic medicine: without involvement there is no accuracy

Within the framework of the POBLAR programme, dependent on the Secretariat of Planning and Policies in Science, Technology and Innovation of the Ministry of Science, Technology and Innovation, the virtual talk “Genomic Medicine. Participation by Dr. Arcadi Navarro, Co-Director of the European Genome Archive (EGA) There is no accuracy without .

Before the talks, Dr. Navarro held a meeting with Diego Hurtado, Secretary of Planning and Policies in Science, Technology and Innovation, and representatives of POBLAR, who discussed the opportunities involved in sampling across countries and compiling genomic and related data. With a history of mass abortion, as is the case with Argentina.

At the meeting, it was estimated that these populations are “severely underrepresented in the most widely used biobanks worldwide,” according to POBLAR coordinator Rolando González-José, who said that “the benefits of The role of POBLAR in correcting this sampling bias for . The current challenge is to increase the population of Argentina and the above information through appropriate bioethical and scientific procedures.”

The specialist began his dissertation by going back to the first two major genomic projects: the Human Genomic Project (2001), initially “Mapping the sequence of chromosomal variants of 4 populations and (…)”; and the International HapMap project created 15 years later, in which 1,000 genomes from different populations around the world were sequenced.

Both initiatives required participants’ consent: “Whole genome data sharing creates problems, studies that address whole disease consent are signed, ‘We will share your data for research purposes only’ , and there are millions of people who have signed this type of document”, explained Arcadi Navarro, who also serves as research professor at ICREA (Catalan Institute for Research and Advanced Study), Spain’s national bioinformatics Director of the Institute’s Population Genomics Node and Professor of Genetics at the University of Pompeau Fabra (UPF).

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It considers two human rights in conflict: the right to privacy and the right to share the benefits of science. “Faced with this dilemma of genomic information, which cannot be erased and can be easily identified by citizens, my position is that scientific data must be unbiased; we have to be able to find them, that is, to know that Where is that data; they must be easy to request, that we present them to us if they meet the requirements; they must be ambiguous, be able to work with that data; and they must be reusable Should be”, the expert assured.

Information access and access issues

Given the difficulties of access and regulation of genomic data, the Global Alliance for Genomics and Health was created in 2013, an organization “the world reference for standards in genomics, which ensures that shared knowledge is given all its power.” world of health”. In this sense and to measure the scope of the conflict, the expert said that two thirds of drugs approved in 2021 in the United States are mediated by genomic information, they are precision medicine. belong to the era.

As such, “the problem today is the secondary use of information generated from the health environment and not to send the model data to one place but to send algorithms to analyze it. It is a model that uses managed access.” Will coexist with previous models”, Arkady analyzed. How to connect these two models?” he asked, to answer this we should look at newer medical genomics models that are not suitable for establishing controlled access to databases because: they are projects that are built from country to country , are based in specific. Jurisdiction, as in the case of POBLAR. There is a large number of participants, it focuses on different phenotypes and diseases; it is multidisciplinary; and has its own process of accessing the data.

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The second issue is networking; Various European countries signed a treaty to create Federated Human Data, an accessible network of more than 1 million European genomes for research purposes, of which Argentina and South Africa also want to be a part. According to Arkady, the aspiration of the European Genome Archive (EGA) is to support discoveries and secure access to global genomic data. “We are building a global data sharing system,” he said, and at the end of the talk he added that “precision medicine is not a one country project, it is a project of all humanity, and the way to turn it into a network. through the participation of every state and institution in a project for the whole of humanity”.

It should be remembered that the EGA is one of the most important international repositories of genomic data in the world; And it is an issue of significant relevance to the POBLAR program, whose basic objective is to strengthen links between members of the scientific community and health experts to create a biobank of the genomic context and associated metadata of the Argentine population.

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