IMPaCT: Advancing Precision Medicine Growth

iSanidad Yearbook 2025
Nieves Sebastian Mongares
Five years after its launch, the Precision Medicine Infrastructure associated with Science and Technology (IMPaCT) has become one of Spain’s great strategic commitments to transfer biomedical research into clinical practice. This articulates network programs of predictive medicine, data science and genomics with a common objective: to advance towards personalized, equitable and evidence-based medicine. Marina Pollán, director of the Carlos III Health Institute (ISCIII), takes stock of the path taken and outlines the next steps planned within the project.

It has been five years since the call to launch IMPaCT was approved. What assessment do you make of this period and what milestones would you highlight within it?
The IMPaCT infrastructure has been consolidated in these five years as a fundamental driver for the development of precision medicine in Spain. It is promoted and financed by the Carlos III Health Institute (ISCIII), and is developed with the support of the Ministry of Science, Innovation and Universities, and the Ministry of Health. Its three programs – Predictive Medicine, Data Science and Genomic Medicine – allow us to advance and respond through research to the challenges posed by personalized medicine.

Along with the work of these three programs, we associate IMPaCT with research projects capable of promoting the implementation of personalized diagnoses and therapies in the National Health System.

“The IMPaCT infrastructure has been consolidated in these five years as a fundamental driver for the development of precision medicine in Spain”

The IMPaCT Cohort is one of the pillars of the project and aims to collect data from 200,000 people over 20 years. How is progress being made in this area and what do you think its data can contribute to the advancement and development of precision medicine in Spain?
There are already more than 26,000 people recruited in this study, which has the collaboration of 51 primary care health centers distributed throughout Spain. The objective is, thanks to a random recruitment that guarantees the population and social representativeness of our population, to know the risk factors of the main diseases that affect us as a society, provide information to know how to prevent them, developing predictive models to identify people at higher risk and, in general, better understand the health of the population.

Participation begins with a telephone call from the health center to randomly selected people. If the person agrees to participate in the study, different clinical tests, sample collection and a questionnaire on lifestyle habits are performed to obtain data on their health status. These anonymous and confidential genomic, clinical and lifestyle data will serve to promote research, better understand the diseases we suffer from, and create personalized prevention strategies considering the different probability of getting sick. Go ahead in time to be able to avoid or delay the disease and thus improve the health of the population.

If you receive a call from your health center, do not hesitate: by being part of the IMPaCT Cohort you will do great social work for the benefit of science and health. For this reason, one of the cohort’s mottos is If they call you, come!

“These anonymous and confidential genomic, clinical and lifestyle data will serve to promote research, better understand the diseases we suffer from, and create personalized prevention strategies.”

The second axis of the plan is related to data science. What tools and/or platforms are being developed in this area and what recommendations have been issued regarding the use of technologies and standards for data management?
This program supports the creation of a common, interoperable and integrated system for the collection and analysis of biomedical data, based on the knowledge and resources of the Spanish Science and Technology System. We want to provide better answers to research questions based on the different clinical and molecular information systems available. It is very important to consolidate that the research community has a population perspective of health based on individual data.

The IMPaCT-Data Axis has already developed a series of recommendations and good practices for the collection of electronic medical history information, guaranteeing the interoperability of all this information. He is also working on the development of a virtual research environment for the analysis of this genomic, clinical history and medical imaging data. Additionally, it identifies and/or develops software tools to analyze this information in a federated manner.

The genomics section of IMPaCT seeks to improve diagnosis in rare diseases, cancer and other genetic pathologies. What are the main challenges in this area currently and how are you working to respond to them?
IMPaCT Genomics promotes complete genome sequencing among people with rare diseases or familial cancer whose mutation has not been identified in order to advance the possible diagnosis that has not yet been possible with the usual care tests. With high-capacity tools and more advanced genomic analysis strategies, we try to offer the best genetic diagnosis to understand the alteration that causes this disease and thus allow the search for new treatments.

“In its first years of life, IMPaCT Genómica has made it possible to sequence the complete genome of more than 2,000 patients with rare diseases without diagnosis and patients with suspected hereditary cancer”

This program has the participation of more than 300 people with whom it collaborates directly, and a network of 110 hospitals in all the autonomous communities. In its first years of life, IMPaCT Genomics has made it possible to sequence the complete genome of more than 2,000 patients with rare diseases without diagnosis and patients with suspected hereditary cancer.

Taking into account the importance of citizen participation, how is the ISCIII working to enhance this part and what response is society offering to the call to participate in the project?
We have incorporated citizen participation in IMPaCT since its initial design, because it is key to defining strategies, development and communication. Citizens must contribute to the health of the future through open science: accessible, efficient, democratic, transparent and dynamic, with the participation of both the scientific community and society. We are very clear that we must guarantee scientific development that truly benefits people, and to do so we need a closer connection between research, society and patients.

In this regard, to give an example, IMPaCT maintains a relationship with entities such as the Platform of Patient Organizations, the Spanish Federation of Rare Diseases (Feder) and the Spanish Association Against Cancer (AECC).

“About 50% of people who receive a call from their health center to collaborate in IMPaCT Cohort decide to participate in the project”

The IMPaCT Cohort is a clear example of how citizen participation is being key in this project. The positive response rate of the people we call from Cohorte is much higher than in other similar international initiatives. About 50% of people who receive a call from their health center to collaborate in IMPaCT Cohort decide to participate in the project. Thanks to this, more than 26,000 people have already been recruited. Society is responding wonderfully.

How is networking within IMPaCT coordinated between all established nodes at the national level? What is the communication like with the European infrastructures linked to IMPaCT and what does establishing this type of partnership provide?
Each IMPaCT program coordinates its nodes, and from the ISCIII, within the framework of its coordination work, follow-up meetings, annual scientific conferences, joint meetings, information events and dissemination of research projects linked to IMPaCT are held. At the international level, the relationship with transnational agents that pursue common objectives cannot be missing. For example, Spain participates in the Genome of Europe initiative, and from IMPaCT we provide genomic information from the sequencing of people who are part of the Cohort.

What tools are being used and how is the progress of the different projects framed within IMPaCT being monitored?
The ISCIII promotes and finances the IMPaCT Infrastructure. As the coordinating body of this initiative, we carry out continuous monitoring of the three programs, which work in collaboration and in a complementary manner, and of all the research projects that are funded in different scientific areas.

“As the coordinating body of this initiative, we carry out continuous monitoring of the three programs, which work in collaboration and in a complementary manner”

We also rely on the ISCIII biobank, which stores samples. The centralization of data (genomic, imaging and clinical) obtained in IMPaCT Genómica and data from PMP projects granted in coordination with IMPaCT Data is being promoted to be able to offer them to the scientific community as a secondary use in projects to benefit the health of patients and citizens.

By way of conclusion, what are the main lines or actions that are currently being carried out and what conclusions or results do you hope to be able to communicate in the short-medium term?
As I have pointed out in previous answers, IMPaCT continues to grow to consolidate excellent, efficient, equitable and sustainable precision medicine in the National Health System. The continuity of this infrastructure is key to better understanding diseases and to taking care of our health in the best possible way.

We are working to have a first tool that makes the first Cohort data visible to the scientific community, we are going to incorporate more genotyping centers into the existing network, and a data lake will be generated with the results obtained in the associated research projects. In short, the three IMPaCT programs will continue to provide knowledge and evidence so that Spain continues to make personalized medicine a flagship of its science.

A series of guides have also been developed on genomic analysis and data management, and models on diagnostic reporting and clinical recommendations, always guaranteeing respect for people’s rights.