Periodic Reporting for period 3 - INTERVENE (International consortium for integrative genomics prediction)
Okres sprawozdawczy: 2023-07-01 do 2024-12-31
Data science and artificial intelligence (AI) are set to revolutionize how we understand diseases and develop new, personalized treatments. However, bringing these technologies into everyday healthcare still faces big challenges.
Most diseases aren't caused by just one or two genes. Instead, they result from a mix of many small genetic factors, along with lifestyle and environmental influences. That’s why predicting and treating disease is so complex.
Thanks to new methods for analyzing genes and the growing availability of digital health records, we now have the tools to move toward more personalized care. One key tool is the genetic risk score—a number that sums up how a person’s genes may affect their risk for a specific disease.
The INTERVENE project is an international effort to use AI to create better genetic risk scores. By working with large, diverse datasets from global biobanks, INTERVENE aims to make these scores more accurate and useful for both common and rare diseases. These risk scores are designed to help doctors and patients understand disease risk and guide screening and treatment decisions.
INTERVENE's main goals are to:
Combine genetic and health data from over 1.7 million people and make it easier to compare across studies.
Develop AI-powered risk scores that keep improving and cover more diseases.
Test how these scores can be used in real healthcare settings and plan how to roll them out across Europe and beyond.
Most diseases aren't caused by just one or two genes. Instead, they result from a mix of many small genetic factors, along with lifestyle and environmental influences. That’s why predicting and treating disease is so complex.
Thanks to new methods for analyzing genes and the growing availability of digital health records, we now have the tools to move toward more personalized care. One key tool is the genetic risk score—a number that sums up how a person’s genes may affect their risk for a specific disease.
The INTERVENE project is an international effort to use AI to create better genetic risk scores. By working with large, diverse datasets from global biobanks, INTERVENE aims to make these scores more accurate and useful for both common and rare diseases. These risk scores are designed to help doctors and patients understand disease risk and guide screening and treatment decisions.
INTERVENE's main goals are to:
Combine genetic and health data from over 1.7 million people and make it easier to compare across studies.
Develop AI-powered risk scores that keep improving and cover more diseases.
Test how these scores can be used in real healthcare settings and plan how to roll them out across Europe and beyond.
The INTERVENE project has completed four out of its five planned years and is successfully meeting its goals. Most of the key tasks outlined in our plan have been achieved, and we’re making strong progress in using AI to analyze large sets of genetic and health data to create the next generation of disease risk scores.
So far, the project has produced over 80 scientific papers. This includes a major study that shows how to estimate disease risk for 18 common illnesses in different countries, as well as papers introducing new AI methods for better predictions. Our cloud-based tool for calculating genetic risk scores is now being used by several biobanks and is available at geneticscores.org.
Clinical pilot studies in Estonia, Finland, and Italy are on track and will help us learn how knowing one's genetic risk affects health decisions, especially for heart disease and breast cancer. We’re also working with patient groups and ethics experts to ensure AI-based genetic risk scores are used responsibly in healthcare.
INTERVENE promotes teamwork through meetings and workshops and shares results widely, including at top genetics conferences like ASHG and ESHG. Our team has appeared on podcasts, trained users of our risk calculator, and is actively engaging with different groups to maximize the project’s impact.
Overall, we’re on course to meet our goals and contribute to a new era of genetic risk prediction that benefits both science and society.
So far, the project has produced over 80 scientific papers. This includes a major study that shows how to estimate disease risk for 18 common illnesses in different countries, as well as papers introducing new AI methods for better predictions. Our cloud-based tool for calculating genetic risk scores is now being used by several biobanks and is available at geneticscores.org.
Clinical pilot studies in Estonia, Finland, and Italy are on track and will help us learn how knowing one's genetic risk affects health decisions, especially for heart disease and breast cancer. We’re also working with patient groups and ethics experts to ensure AI-based genetic risk scores are used responsibly in healthcare.
INTERVENE promotes teamwork through meetings and workshops and shares results widely, including at top genetics conferences like ASHG and ESHG. Our team has appeared on podcasts, trained users of our risk calculator, and is actively engaging with different groups to maximize the project’s impact.
Overall, we’re on course to meet our goals and contribute to a new era of genetic risk prediction that benefits both science and society.
INTERVENE is using advanced tools to analyze large collections of genetic and health data from biobanks. This helps scientists understand how our genes, lifestyle, and environment affect our risk of getting certain diseases.
In the coming years, INTERVENE will lead the way in developing improved risk scores that combine genetic data with medical records and other information. These new scores will be much better at predicting, explaining, and diagnosing disease than current methods.
By bringing together data from more than 1.7 million people, INTERVENE will have a large enough sample to create powerful and accurate risk scores. These scores will also be able to predict things like how a person's risk changes over time, how it varies across different groups (like by ethnicity or social background), and what the overall outlook for a disease might be.
INTERVENE is also creating an open-source platform to make these risk scores widely available and easier to improve, helping scientists everywhere develop better tools for predicting many different diseases.
In its final year, INTERVENE is focusing on two clinical pilot projects. One is for preventing heart disease and has finished recruiting participants and is now analyzing the results. The other is for breast cancer, with 1,000 patients already enrolled in Italy and Finland. Most have had their genes analyzed, and now researchers are collecting data from their healthy relatives. This follow-up will continue even after the INTERVENE project ends.
In the coming years, INTERVENE will lead the way in developing improved risk scores that combine genetic data with medical records and other information. These new scores will be much better at predicting, explaining, and diagnosing disease than current methods.
By bringing together data from more than 1.7 million people, INTERVENE will have a large enough sample to create powerful and accurate risk scores. These scores will also be able to predict things like how a person's risk changes over time, how it varies across different groups (like by ethnicity or social background), and what the overall outlook for a disease might be.
INTERVENE is also creating an open-source platform to make these risk scores widely available and easier to improve, helping scientists everywhere develop better tools for predicting many different diseases.
In its final year, INTERVENE is focusing on two clinical pilot projects. One is for preventing heart disease and has finished recruiting participants and is now analyzing the results. The other is for breast cancer, with 1,000 patients already enrolled in Italy and Finland. Most have had their genes analyzed, and now researchers are collecting data from their healthy relatives. This follow-up will continue even after the INTERVENE project ends.