International dimension
1 + Million Genomes
1 + Million Genomes (1+MG) is one of the most ambitious initiatives in the world in Precision Medicine in which the ISCIII plays a very active role in leading and coordinating Spanish action in this field.
This initiative was endorsed under a Declaration by the signature of 25 EU countries, which carry out their activity in accordance with the approved roadmap and also participate in the 12 Working Groups (WGs), created as part of the governance of the 1+MG initiative.
These 1+MG WGs have their analogues at the national level, which are called “National Mirror Groups”.
IMPaCT Genomics is directly aligned with the 1+MG initiative.
Thanks to this action, the sequencing infrastructures are consolidated into a network structure with the capacity at this time to provide answers to the Spanish research and health system.
The use cases are mimetic with some of those proposed within the 1+MG project, so the Spanish contribution to the aforementioned project will be reinforced.
The three coordinators of the IMPaCT axes participate as experts in the WGs and coordinate the analogous national mirror groups.
Currently, the coordinators of the IMPaCT-Cohort Axis (Marina Pollan) and the IMPaCT-Genomics Axis (Ángel Carracedo), are the Spanish representatives in Working Group 10 (Pharmacogenomics, Uses Case) and coordinate the Spanish mirror group; while the coordinator of the IMPaCT-Data Axis (Alfonso Valencia) is part of Working Group 3 (Common Standards and Minimal data set) and also coordinates the Spanish mirror group.
In this action, another collaborating entity of the project (Ivo Gut-CNAG) participates in Working Group 4 (Good Sequencing Practices) at European level and coordinates the Spanish mirror group.
The CIBER groups and the entities that participate in the IMPaCT-Data Axis also participate in the national working groups, with Pablo Lapunzina being the coordinator of the Spanish mirror group 8 (WG8 Use case – Rare diseases).
The Spanish Interoperability and Data Transfer Working Group 5 is coordinated by Joaquín Dopazo (FPS).
Finally, Marina Pollán (IMPaCT-Cohorte) co-leads the Spanish mirror group analogous to WG12 together with the ISCIII.
Genome of Europe.
The 1+MG initiative is currently implemented through two funded European projects.
The first of these is the project Beyond 1 Million Genomes (B1MG), whose mission is to identify the technological elements and structures necessary (legal, governance, ethical, economic) to create a framework of trust, “1+MG Trust framework” in which this initiative can crystallize. The second project is Genome Data Infrastructure (GDI), running until 2026, which builds on the work carried out at B1MG to this time materialise a federated and interoperable genomic data infrastructure accessible at European level that meets the highest standards of security and quality, where the work carried out in IMPaCT will be incorporated.