- The European project Genome of Europe (GoE) will generate the most comprehensive genetic database of the European population to date, sequencing 100,000 genomes representing people across the continent. A total of 27 countries, including Spain, are participating, with a budget of €45 million, of which Spain is contributing approximately €3 million.

- This is the largest genomics project in Europe to date, marking the first step towards sequencing 500,000 genomes that will serve as a reference to enhance early detection, diagnosis, and prevention of numerous genetic diseases.

- The project is part of the European initiative 1+Million Genomes (1+MG), whose main objective is to extend the benefits of genomics to national healthcare systems. The database generated by Genome of Europe will include genetic information from the populations of all participating countries, a key requirement for advancing personalised medicine.

- The main Spanish institutions involved are the Instituto de Salud Carlos III (ISCIII), the Centro Nacional de Análisis Genómico (CNAG), the Centro Nacional de Investigaciones Oncológicas (CNIO-ISCIII), and the Consorcio Centro de Investigación Biomédica en Red (CIBER-ISCIII), all of them public institutions under the Ministry of Science, Innovation and Universities, along with the University of the Basque Country (UPV-EHU).

 

March 4th, 2025. Personalised medicine has just received a new boost within the framework of the European Research Area, with a strong Spanish presence. Scientific structures and national healthcare systems have taken another step forward in fostering precision medicine, adapting treatments and prevention strategies to the individual characteristics of each patient. This progress is thanks to the launch of the European project Genome of Europe, which will enable the creation of the most extensive pan-European population genomics database to date, with significant Spanish participation, collecting over 100,000 whole genomes representing the continent's inhabitants.

The Instituto de Salud Carlos III (ISCIII), the Centro Nacional de Análisis Genómico (CNAG), the Centro Nacional de Investigaciones Oncológicas (CNIO-ISCIII), the Consorcio Centro de Investigación Biomédica en Red (CIBER-ISCIII), and the University of the Basque Country (UPV-EHU), public institutions under the Spanish Ministry of Science, Innovation and Universities, will spearhead this initiative from Spain, contributing to the creation of the largest genetic catalogue of European citizens.
 
The project will be supported by €45 million in funding, involving 27 countries and more than 100 experts from 49 European research institutions. As with many European initiatives, it is co-funded by the EU, meaning that each beneficiary contributes 50% of the total costs. In Spain's case, the budget amounts to almost €6 million, half of which is provided by the EU.
 
Regarding the role of Spanish institutions, ISCIII will contribute coordination and expertise from its involvement in the European Research Area, along with a portion of the budget. CIBER-ISCIII, which oversees the IMPaCT Cohort, will recruit participants and provide their samples. Both CNIO and CNAG will be responsible for sequencing, while UPV-EHU will address the ethical and legal aspects of the project.
 
Genome of Europe will facilitate the integration of genomic data into the European Health Data Space by enabling interaction among the different genomics programmes of each participating country.
 
The Minister of Science, Innovation and Universities, Diana Morant, emphasised that Spain's collaboration in this project is "a decisive step in an unprecedented commitment by the government to strengthen precision medicine based on the application of cutting-edge scientific knowledge."
 
Understanding DNA: the first step towards making personalised medicine a reality
 
The project, which has just begun, is part of the European Commission's 1+Million Genomes (1+MG) initiative, which aims to promote advancements in genomics and their application in medicine. The initiative seeks to collect data from 500,000 representative genomes of the European population to serve as a clinical and research reference. Genome of Europe will take the first step towards this goal by funding the sequencing of the first 100,000 genomes and assessing the long-term potential of genomic sequencing in biomedical research and its integration into European healthcare systems, while ensuring a robust ethical-legal framework and secure data management.
 
Decoding the full genome of citizens is highly valuable information, as genes and their behaviour hold crucial insights into how humans develop and respond to genetically based diseases. The DNA catalogue representing the various population groups that make up European society will provide a foundation for pioneering biomedical science, contributing to the prediction, prevention, diagnosis, and treatment of multiple diseases, including cancer and rare diseases.
 
Genome of Europe and the IMPaCT Cohort: a timely synergy
 
In Spain, participants in this study will be drawn from the IMPaCT Cohort, a key pillar of the IMPaCT infrastructure for Precision Medicine in Science and Technology, launched and coordinated by the Instituto de Salud Carlos III in 2020 to facilitate the effective deployment of precision medicine within the National Health System.
 
The Centro de Investigación Biomédica en Red (CIBER-ISCIII) coordinates the IMPaCT Cohort, which involves healthcare systems from all Spanish autonomous communities. The cohort is already operational, made possible through ISCIII funding. The IMPaCT Cohort currently includes 40 primary care centres recruiting participants aged 16 to 79, selected at random, and will expand to 50 centres across Spain.
 
Beatriz Pérez Gómez, a researcher at the Centro Nacional de Epidemiología (ISCIII), CIBERESP, and coordinator of the IMPaCT Cohort, highlights that the association with Genome of Europe "will help us understand the role of lifestyle habits, genetic susceptibility, and specific characteristics of the Spanish population and its environment in the origin of major diseases and health conditions." She adds that, thanks to this cohort, "we can incorporate specific aspects of lifestyle, social factors, environment, and biology of the Spanish population. To achieve this, the cohort needs access to participants' genetic information, a requirement that will be partially met through the sequencing data obtained from Genome of Europe."
 
Sequencing over 12,000 whole genomes in Spain
 
One of the objectives of Genome of Europe is to create a reference genome based on sequencing data from 100,000 people from the general population. This reference will allow the research and clinical community to compare patient data to identify pathogenic risk variants, diagnose genetic diseases, and advance prevention. Of these 100,000 individuals across Europe, Spain will contribute by sequencing 12,000 whole genomes from its population. Following sample collection, CNAG and CNIO will be responsible for sequencing, using the latest genomic technologies.
 
CNAG, as a European reference centre in genomic analysis, will also play a key role in coordinating the other European sequencing institutions, closely monitoring the selection and shipment of samples to ensure that the genomes obtained are of the highest quality. Additionally, throughout the project, the center will promote the application of cutting-edge technologies for genome sequencing, extending them to the other participating countries to further drive innovation and improve outcomes.
 
According to CNAG Director and project coordinator for Samples and Technology, Dr Ivo Gut: "Genome of Europe is a crucial component of the 1+Million Genomes Initiative. It will be key to deepening our understanding of genetic variation among European citizens, which is essential for developing personalised medical applications based on patients' genetic information to prevent, diagnose, and treat diseases."
 
The CNIO will be responsible for extracting DNA from the 12,000 peripheral blood samples collected by the IMPACT Cohort, quantifying it, and distributing it equally between CNAG and CNIO for sequencing. “The data generated will bring key benefits both in the short and long term,” says Anna González-Neira, head of the Human Genotyping-CEGEN Unit at the centre. She adds, “Beyond documenting and quantifying the genetic diversity of European populations, this work will help develop accurate polygenic risk scores for each population and serve as a reference panel for imputations in large-scale genotyping studies. In the long run, it will enable association studies between genetic and clinical data, driving biomedical research, advancing precision medicine, and ultimately improving public health across Europe.”
 
Participants' rights at the heart of Genome of Europe
 
UPV/EHU will oversee the ethical and legal response to the challenges posed by handling this vast amount of genomic information. This response must be grounded in respect for participants' autonomy and rights, as well as in transparency and the protection of personal data by design and by default.
 
This innovative governance framework, aimed at promoting open science and contributing to the future European Health Data Space, will build on the work carried out in recent years by the Ethical and Legal Aspects Group of IMPaCT-Genómica within the 1+Million Genomes (1+MG) initiative.
 
By taking part in Genome of Europe, Spain strengthens its key role within the European Research Area and reaffirms its commitment to advancing precision medicine, ensuring that science continues to improve people’s health.