
The IMPaCT Cohort aims to advance research in precision preventive medicine through the recruitment of 200,000 participants. For each of them, epidemiological information, a comprehensive physical examination, and environmental exposure measurements will be collected, all of which must be complemented by genomic data.
In Europe, the flagship initiative 1+ Million Genomes (1+MG) seeks, among its main objectives, to create a reference genome based on sequencing data from 500,000 individuals from the general population. This reference will allow researchers and clinicians to compare patient data for the detection of pathogenic risk variants, the diagnosis of genetic diseases, and to promote research and prevention.
Spain has committed to contributing genomic data from 60,000 individuals for this purpose, and the IMPaCT Cohort, which includes 50 recruitment centres across the 17 Autonomous Communities, as well as Ceuta and Melilla, represents the ideal population to achieve this goal. This initiative will therefore mark the beginning of the incorporation of genomic information into the cohort, enabling future assessment of genomic variability across regions, by sex, and by ethnic background within Spain.
In 2024, a European project entitled Genome of Europe (GoE) was awarded funding to cover most of the sequencing costs for the first 12,000 participants in the cohort. Within this context, the present project seeks to initiate the integration of genomic data into the cohort and to help partially fulfil Spain’s commitments to 1+MG. Combined with the GoE, it will enable the availability of genomic sequencing data from at least 18,000 individuals. The project also includes the creation of an infrastructure or platform to store and share this information.
Finally, it is important to highlight that the Cohort is established and maintained within the context of primary care, offering an excellent opportunity to explore the feasibility of using pharmacogenomic information at this level. For this reason, the project includes a pilot study on the return of pharmacogenetic information to physicians and participants, focused on selected, guideline-based and validated genes known to influence the efficacy or toxicity of key medicines commonly used in primary care.
ROLE OF CNAG
Our Director at CNAG, Ivo Gut, will be one of the coordinators of this project. CNAG will contribute to internal standardisation and alignment with international initiatives, sequencing and data processing, as well as data storage and the development of a platform for the exploitation of genomic data from the IMPaCT Cohort.
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