Credit: @CireniaSketches / CNIO.
Spain has announced its participation in the European project 'Genome of Europe' (GoE), which will generate the largest database of the European population.
100,000 genomes will be sequenced, a sample in which the entire population of the 27 participating countries will be represented. The data generated will help to determine each person's risk of developing genetically based diseases, such as cancer.
We explain here what genomics is, why it is important for precision medicine and which are the main genomics-based projects in Spain, such as IMPACT. This information was prepared jointly with the Carlos III Institute of Health (ISCIII) and the Spanish National Center for Genomic Analysis (CNAG).
The European project Genome of Europe (GoE) will generate the most exhaustive genetic database of the European population to date, sequencing 100,000 genomes representing all the people on the continent. According to CNIO researcher Anna González-Neira, the data generated will help to determine the risk of each person to develop genetically based diseases, such as cancer.
What is precision medicine? And genomics?
Precision medicine, also related to the term personalized medicine, is a scientific approach to disease prevention, diagnosis, treatment and care that takes into account each person’s individual genetic variability, environment and lifestyle to address health problems. Precision medicine facilitates the work of scientists and healthcare professionals to study and select more precisely which prevention and treatment strategies for a disease will work best for a group of people.
What is the European iniciative 1+Million Genomes (1+MG)?
The European Commission’s initiative aims to ensure secure access to genomic and related clinical data across Europe to support innovative research, health policy formulation, as well as to promote personalized treatments with the potential to improve disease prevention. This is one of the world’s largest projects in the field of genomics and makes a significant contribution to setting global standards in this field.
Why is the Genome of Europe project necessary now?
The Genome of Europe project was initiated in response to the rapid growth in the use of genetic data in research and clinical applications, and the lack of a whole genome sequencing (WGS) reference dataset for Europe.
What is the Genomic Data Infrastructure (GDI) project?
The Genomic Data Infrastructure (GDI) project facilitates access to genomic, phenotypic and related clinical data across Europe. This is achieved by establishing a federated, sustainable and secure infrastructure for accessing such data. This project is materializing the ambition of the 1+ Million Genomes (1+MG) initiative.
Why is genetic information important?
As André Uitterlinden, Coordinator of the Genome of Europe project explains, “many of our characteristics as human beings are encoded in our DNA, including our risk of disease or how we respond to treatment. We carry this information from birth to death, which opens the door to being able to make a very comprehensive prediction of our risk of certain diseases. This prediction can be made through certain tests that are affordable for, for example, inclusion in prevention programs. In fact, genetic information is already used in a multitude of research and clinical applications, especially to understand the biology of diseases, to guide prevention or to make genetic diagnoses.”
The search for cancer-related genes
Currently, only some of those who are at higher risk than normal can know their predisposition to developing cancer. To help many more people know their risk and be able to prevent the onset of cancer, or detect it early, the IMPaCT_VUSCan project has been launched, co-led by the Spanish National Cancer Research Center (CNIO) and the Bellvitge Biomedical Research Institute/Catalan Institute of Oncology (IDIBELL/ICO). It seeks to expand knowledge about the genetic variants that affect cancer predisposition [variants become different versions of a gene; there may be thousands of variants for each gene].
The first beneficiaries of this project will be families with high-risk genes that are passed down from parents to children, presenting therefore more cases of cancer than usual. However, in the medium and long term, knowing more about the relationship between each genetic variant and cancer will bring personalised medicine closer to the entire population.
What is IMPACT?
The Infrastructure for Precision Medicine associated with Science and Technology (IMPaCT) is a state project, coordinated by the ISCIII, whose mission is to establish and transfer the necessary knowledge to facilitate, promote and consolidate the effective deployment of personalized precision medicine in Spain. Its work is distributed in three areas or axes: Predictive Medicine (IMPaCT Cohort), Genomic Medicine (IMPaCT Genomics) and Data Science (IMPaCT Data).
The work of these three axes is complemented by the annual funding of research by the ISCIII within the framework of the call for Precision Medicine Projects (PMP).
The Predictive Medicine Axis (IMPaCT Cohort) seeks to set up a population-based cohort to obtain information on lifestyles, social and environmental context, clinical situation and other factors related to people’s health. This objective will be achieved thanks to the prospective study in which the cohort members, a total of 200,000 people, will take part, and which has 50 nodes in primary care centers throughout Spain. So far, more than 6,000 people have already been recruited for this cohort.
The Data Science Axis, IMPaCT-Data, is oriented towards the development and validation of an environment for the integration and joint analysis of clinical, molecular and genetic data, for secondary use in coordination with the other IMPaCT programs.
IMPaCT Genomics has established a network of high-capacity genomic analysis centers based on existing structures, with the idea of offering services such as whole genome sequencing, together with other biomedical technologies, to the whole of Spain.
