INTERVENE
News and Events
Some of the things we have been up to
October 28, 2025
Ethical Considerations in AI Mortality Risk Prediction
Researchers in Finland have developed an artificial intelligence (AI) model that can predict the risk of dying within one year for every resident, using decades of health, demographic, and socioeconomic data. The model analysed more than 8,000 factors from over 5.4 million people and proved highly accurate, outperforming simpler models based only on age or sex. It represents a new type of “digital ageing marker,” which is a quantifiable measure derived from digital data that estimates a person's biological age. This marker can capture biological frailty, a state of increased vulnerability to poor health outcomes due to overall physical and physiological decline, beyond chronological age, which is simply the actual time a person has been alive.
At the same time, the study revealed important ethical and social concerns. The model’s performance varied across demographic groups as it worked best for younger women but less accurately for older men and disadvantaged populations, such as low-income individuals, migrants, and people with mental health conditions. These disparities raise fairness concerns, as they could reinforce existing health inequalities if the tool were used to guide public health or clinical decisions.
Beyond bias, the study also raises concerns about transparency and accountability. Many AI models function as “black boxes,” meaning that even experts cannot easily see how the system reaches its predictions or which factors weigh most heavily. The researchers note that this lack of interpretability can be especially problematic for disadvantaged groups, whose data are often sparser or less complete, which may partly explain why the model performed less effective for them.
To ensure responsible use, the study calls for more inclusive data collection, continuous monitoring of model performance across social groups, and clear communication about how predictions should be applied. Overall, this work demonstrates both the great potential and the ethical complexity of using AI for mortality and health-risk prediction.
Read the full article here: https://www.nature.com/articles/s43587-024-00657-5
September 30, 2025
Responsible Integration of AI-Driven Polygenic Risk Scores in Healthcare
Polygenic risk scores (PRSs) estimate a person’s likelihood of developing certain diseases based on their genetic profile. With the rise of artificial intelligence (AI), especially machine learning techniques like deep neural networks, extended scores are becoming more data intensive as they integrate not just genetic data, but also clinical and lifestyle information obtained from health records. This evolution opens the door to more accurate predictions of health outcomes and proactive healthcare.
However, the growing complexity of AI-driven PRSs also introduces new ethical and societal challenges. One key issue is fairness: since most genetic studies to date have focused on individuals of European ancestry, PRSs may perform poorly in people from other backgrounds, potentially widening health disparities. Privacy concerns are amplified when large amounts of sensitive genetic and health data are processed for AI-driven PRSs. In addition, the inner workings of AI models are often difficult to interpret, which can make it challenging for doctors and patients to understand or trust the results.
To ensure that AI-driven PRSs can be used responsibly and equitably in healthcare, researchers call for more diverse genetic datasets, stronger data privacy protections, clearer communication strategies and education programs, as well as the development of new professional and regulatory standards. Importantly, these efforts should involve not only researchers and clinicians, but also patients and the broader public. While PRSs can help identify disease risks and AI offers powerful tools to calculate and refine them, these technologies need to be approached and applied mindfully to avoid risks such as misleading interpretations, miscommunication, or biased applications. To address this, researchers propose an ethical layering approach: a framework that integrates ethical considerations at every stage of PRS development and deployment. This means embedding fairness, transparency, and accountability into data collection, algorithm design, validation, clinical implementation, and patient communication – rather than treating ethics as an afterthought.
Read the full article here: https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1098439/full
September 18, 2025
New study from the INTERVENE consortium highlights the benefits of combining health records and genetics to predict disease risk
A new international study published in Nature Genetics shows that combining electronic health record (EHR) data with genetic information significantly improves the prediction of common diseases.
The research team, led by Kira Detrois, Tuomo Hartonen and Andrea Ganna from the University of Helsinki, developed phenotype risk scores (PheRS) and compared them with polygenic risk scores (PGS). PheRS estimate the risk of developing certain diseases based on a person’s medical history from electronic health records, while PGS reflect the inherited genetic risk of these diseases. Using nearly 846,000 participants from FinnGen, UK Biobank, and the Estonian Biobank, the researchers assessed the accuracy and transferability of PheRS across healthcare systems in different countries.
The study demonstrates that PheRS are robust and can be applied across different contexts: most PheRS maintained their ability to predict risks even when tested in different biobanks and health systems. While both PheRS and PGS were significantly associated with disease risk, they captured largely independent information. This combination is useful, as models including both scores consistently predicted disease risk better than genetic data alone. The improvement was especially evident for conditions such as type 2 diabetes, asthma, major depressive disorder, gout, and osteoarthritis. Importantly, PGS were generally better at estimating cancer risk than PheRS.
The findings emphasise that health records and genetics provide independent, non-overlapping insights into disease risk. While genetic data capture inherited predisposition, health records reflect lifestyle, comorbidities, and other risk factors that genetics cannot reflect. Together, genetics and health data provide a more comprehensive and accurate view of future disease risk than predictions using only genetic data.
This research lays the foundation for more precise disease risk models and opens opportunities for improved prevention, early detection, and personalized care across healthcare systems.
Read the full article here: Cross-biobank generalizability and accuracy of electronic health record-based predictors compared to polygenic scores | Nature Genetics
September 1, 2025
FUTURE-AI: A Guideline for Trustworthy and Equitable Use of Artificial Intelligence in Healthcare
Artificial intelligence (AI) can improve healthcare by, for example, helping doctors diagnose diseases or predict treatment outcomes. However, many AI tools haven’t been used in a real-life clinical setting yet because people are concerned about trust, fairness, and safety. To address these concerns, a large team of experts from various disciplines created the FUTURE-AI guideline to help make sure that AI used in healthcare is trustworthy, safe, and useful for everyone.
The FUTURE-AI framework is built around six key principles: fairness, universality, traceability, usability, robustness, and explainability. These principles aim to ensure that AI tools treat all patients equally, work well in different settings, are transparent in how they make decisions, are easy to use, perform reliably, and can explain their reasoning to doctors and patients. The consensus guideline includes 30 practical steps, like collecting data from diverse populations, testing tools in real clinics, and making sure patients’ data are kept private and secure.
By following these recommendations, developers and healthcare providers can take steps towards more equitable and trustworthy use of AI tools. This will help AI become a safe and helpful part of medical care, improving diagnoses, treatments, and overall health outcomes for patients all over the world.
Read the full article here: https://www.bmj.com/content/388/bmj-2024-081554.long
August 21, 2025
Building Trust in Medical AI
Artificial intelligence (AI)- based systems are becoming more common in health care, but patients and health care professionals often wonder if these tools can be trusted. While many efforts focus on making AI accurate, this article argues that trust in medical AI is more than just a technical issue. It is also about human relationships, clear communication, and how AI is introduced and used in real medical settings. People trust people, not just machines, so trust depends on the involvement of health care professionals, patients, and institutions.
To address the public’s questions and concerns, experts from medicine, law, ethics, and computer science, working in four different European research projects (EuCanImage, INTERVENE, BIOMAP and Bigpicture) came together for a workshop to explore what trustworthy medical AI in healthcare really means. The key takeaway is that trust must be built across the entire life cycle of AI - from early design to real-world use. They strongly recommend that AI development teams involve a wide range of stakeholders at every stage, including doctors, nurses, patients, ethicists, social scientists, and legal experts. This helps ensure that AI tools are not only safe and effective but also fair, understandable, and aligned with real-world needs.
In this article, the authors (six of them members of INTERVENE: Mónica Cano Abadía, Kaya Akyüz, Michaela Th. Mayrhofer, Marie-Christine Fritzsche, Alena Buyx and Pekka Marttinen) offer a step-by-step guide to make this happen. For example, in the design phase, clinicians and patients can help define what a tool should do and how to explain its results. During development, technical teams should work with users to ensure fairness and usability. Once validated and then deployed, AI tools should be closely monitored with input from all sides to catch problems early and maintain public trust. This approach puts people at the center, helping make practices around AI more trustworthy.
Read the full article here: https://www.jmir.org/2025/1/e71236
March 31, 2025
Annual Meeting in Turin
The INTERVENE consortium got together for two day on March 27 and 28 to discuss the progress of the project in Turin, hosted by Giuseppe Matullo and his team.
​
The meeting included lots of updates on exciting science from the researchers and excellent presentations from guest speakers Nicola Pirastu and Emanuele Di Angelantonio from the Human Technopole who presented results and plans for population studies and clinical trails in Italy. The Key Note Speech was delivered by SAB member Jacques Fellay, who shed light on the role of genetics in infectious diseases.
​
The meeting also featured workshops on plans for the future, including the sustainability of the GeneticScores.org platform. After enjoying the inspiring talks and discussions and the warm spring weather and tasty food, the consortium is well-set to complete the final tasks and deliverables of the project by the end of the year.
February 5
Clinical consensus statement on using PRS in CVD risk prediction published in EHJ
In line with the projects aim to contribute to the utility of PRS in clinical practice, INTERVENE researchers discuss the implementation of polygenic risk scores for predicting cardiovascular disease (CVD) in a clinical consensus statement published in the European Heart Journal in February 2025. They review the basics of PRS and their role in predicting the risk of CVD and highlight current challenges that need be be addressed before PRS can enter mainstream clinical use. The researchers propose clinical scenarios where PRS may currently offer some utility in CVD prediction and support a research framework for use in other clinical settings.
Read the publication here: Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease | European Heart Journal | Oxford Academic
Free Webinar on calculating PGS with the PGS calculator on Dec 4, 2024
EMB-EBI are organising a webinar to demonstrate how to use scoring files from the PGS Catalog (or custom files) to calculate PGS in your own samples using the PGS Catalog Calculator (pgsc_calc). The pgsc_calc software reproducibly automates PGS calculation in commonly used genotyping formats (plink, VCF) alongside capabilities for adjusting PGS in the context of genetic ancestry (necessary for proper interpretation of PGS across diverse populations). This webinar introduces the software and describes the ancestry adjustment process included in the Calculator, along with information about how to run the tool and interpret results.
This webinar is suitable for researchers, clinicians and bioinformaticians working in the field of human genomics. Experience using command line interface (CLI) applications on Linux or macOS is highly recommended but not essential.
​
Register here:
Calculating polygenic scores with the Polygenic Score Catalog Calculator | EMBL-EBI Training
September 27, 2024
Updates to the Polygenic Score Catalog, including data from multi-ancestry or non-European populations, and the PGS Catalog calculator have now been published in Nature Genetics paper
July 27, 2024
The PGS Catalog Calculator has been installed at diverse biobanks and trusted research environments
INTERVENE supports the development of the Polygenic Score (PGS) Catalog Calculator, which reproducibly calculates PGS, conducts genetic similarity analysis, and adjusts calculated scores in the context of genetic ancestry.
​
The Calculator includes automatic genetic ancestry similarity analysis using population reference panels. PGSs can be normalized across genetic ancestry similarity groups making it particularly useful for working on multiple biobanks to analyse diverse cohorts in a systematic way. Currently many PGS have ancestry biases and transferability problems. INTERVENE is using the adjusted calculator scores to investigate PGS effects on cumulative disease incidence in a diverse cohort including over 1 million global biobank participants. The Calculator is portable, meaning analysts can bring "code to the data" on any platform without transferring sensitive data. It supports offline environments and is scalable to population biobanks. Extensive documentation, a GitHub issue tracker, and a community forum support users.
So far, the Calculator has been deployed to over 10 global biobanks, including HUNT, Genes & Health, China Kadoorie Biobank, and All of Us. Read more about the PGS Catalog Calculator.
​
June 12, 2024
The flagship paper has docked at Nature Communications
INTERVENE proudly presents our flagship paper that describes the new framework we developed for estimating cumulative disease incidences over the life course. We considered country-specific differences in disease incidence as well as how risk estimation of polygenic scores (PGS) varies by both age and sex. We integrated PGS associations from seven studies in four countries (N=1,197,129) with disease incidences from the Global Burden of Disease and found that PGSs had a significant sex-specific effect on asthma, hip osteoarthritis, gout, coronary heart disease and type 2 diabetes with all but type 2 diabetes exhibiting a larger effect in men than women. The effect of PGS was larger in younger individuals for 13 of 18 diseases studied with the effects decreasing linearly with age. The data we used came from biobank studies including FinnGen, UK Biobank, Genomics England, Trøndelag Health Study, Generation Scotland, Estonian Biobank and Mass General Brigham Biobank.
Our framework allows stratification for risk-based prevention and screening using PGS accounting for country, age and sex for 18 high-burden diseases. By appropriately accounting for age and sex-specific PGS effects, our easily extendable framework increases the generalizability of results from biobank studies and the accuracy of absolute risk estimates. We demonstrate the importance and utility of PGS: by making PGS comparable to other risk factors, we provide a tool for public health officials to make informed decisions on how to use PGS in real-world settings.
The study, which was a multi-centered effort led by INTERVENE coordinators Andrea Ganna and Samuli Ripatti, is now published in Nature Communications.
One of the three first authors, Brooke Wolford, sees the impact of the work as two-fold: “Firstly, we provide a framework for estimating one's lifetime risk of disease based on age, sex, country, and polygenic burden of disease which should facilitate conversations between patients and physicians with numbers that are a bit easier to comprehend than the relative risks that are often used. Secondly, we demonstrate how these more accurate risk estimates might change screening and surveillance programs to deliver on the promise of precision medicine.”
Professor Samuli Ripatti continues: Our study highlights the power of combining 1.2 million biobanked samples across Europe. This allowed us for the first time to show that in many diseases the effects of polygenic risk scores are much higher in young individuals compared to older participants and some effects are also different for males and females. These observations may have implications when implementing the risk scores to clinical practice.
​
Jermy, Läll, Wolford et al. Nature Communications June 12, 2024
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk
May 3, 2024
INTERVENE featured in the We're doomed, we're saved podcast
INTERVENE researchers Brooke Wolford and Kristi Läll joined hosts Andreas Horchler and Louise von Stechow in the latest episode of the biorevolution podcast We're, doomed We're saved to talk about polygenic risk scores.
Check out the discussion:
Apple:
https://podcasts.apple.com/de/podcast/we-are-doomed-we-are-saved-22/id1638090318?i=1000654391391
Spotify:
https://open.spotify.com/episode/4gOIgDvLz8NB2yUrf3Hiqi?si=3Q4iZEtQTHq_m8wuRIj3yA
Youtube:
https://www.youtube.com/watch?v=_eImY2_NODE
February 9, 2024
Helen Cooper (UH) has started as the new Communications Officer for INTERVENE.
​
We are also anticipating the arrival of our flagship paper. Watch this space!
News in the New Year
December 7, 2023
INTERVENE goes Copenhagen
Members from INTERVENE attended a workshop “Future of Predictive Genomics in Denmark”, sponsored by Thermo Fisher Scientific and Allelica, to take part in a discussion on the state of predictive genomics in the Nordics. INTERVENE's Andrea Ganna held the keynote on PRS in Nordics and Europe today, presenting the project and its key achievements, as well as participated in a panel discussion on the present status and future prospects of PRS. Many thanks to the organizers for having us!
October 11-12, 2023
Annual Meeting in Rotterdam
It’s that time of year again! This October, INTERVENErs came together for a consortium-wide Annual Meeting in beautiful and unusually warm Rotterdam. The meeting was hosted by INTERVENE partner ttopstart – for which many thanks for ensuring a productive, hospitable, well-organized event encompassing great science, good food in the beautiful Netherlands.
The event featured scientific presentations from across the consortium and work packages, small-group planning sessions and interactive workshops. To interface with similar initiatives for inspiration and possible collaborative synergies, the meeting began with a session featuring external talks within the larger theme of clinical utility of polygenic risk scores. Following insightful presentations from Francesco Florindi (Thermo Fisher), Sowmiya Moorthie (PHG Foundation), and Suzette Delaloge (Gustave Roussy), INTERVENEs Elisabeth Widén moderated a panel discussion focusing on whether and when polygenic risk scores are ripe for the clinic.
Following several excellent research updates from across INTERVENE, we convened for an afternoon workshop to discuss a key priority for the consortium - the joint effort on embedded ethics. We rounded off the day with a working dinner and networking event.
​
The following day was focused on strategy, with the morning session dedicated to plans for the second half of the project. Following presentations and discussions on the project’s business plan and infrastructure platform, we departed Rotterdam with renewed and reinforced excitement toward our joint effort as well as fresh ideas, connections, and perspectives.
Our warmest thanks to all speakers, participants, and organizers of this intense, productive and well-executed event. We hope to see you all soon again!
INTERVENE coordinator Andrea Ganna recaps the achievements for the first half of the project
Sunny faces under cloudy skies in Rotterdam
September 21, 2023
Project review - past the midway point
At the turn of summer, INTERVENE reached its midway point. We have now reached 30 months of project activities, with 30 more months to go until the project ends in December 2025.
In connection with our half-way mark, the project was subjected to a periodic review by European Commission staff and external reviewers. During an intense full-day meeting in September, the project leadership presented the main achievements as well as forward-looking activities and directions for the latter half of the project. As part of the review, INTERVENE prepared a comprehensive periodic report, which together with project deliverables and financial statements was scrutinized by our reviewers.
In its evaluation report, the Reviewers commended the project for its leadership and its continued excellent performance in scientific output. It was noted that the overall project progress is good and convincing, that work foreseen for the period has been performed according to the original plan with all planned deliverables and milestones successfully achieved.
The review issued 10 recommendations for the consortium to consider, which we will incorporate into our strategy for the latter half if the project. As before, presentations were clear and well prepared, and we are pleased that the dialogue with the reviewers was positive and constructive throughout the intense day.
Many thanks to all INTERVENErs for making our first half a very successful one!
June 21, 2023
Paper spotlight: The flagship has left the harbor
Polygenic scores offer the ability to predict genetic risk for complex disease across the life course. To produce risk estimates relevant for clinical and public health decision making, it is important to account for any varying effects due to common risk factors such as age and sex. In a flagship paper from INTERVENE, we report the development of a novel framework to estimate for cumulative incidences over the life course. Using data on more than 1.3M individuals, we provide a PRS-based framework for country-, age-, and sex-specific estimates of the cumulative incidence for 18 high-burden diseases. Our easily extendable framework increases the generalizability of results from biobank studies and the accuracy of absolute risk estimates by appropriately accounting age and sex-specific PGS effects. Our paperhighlight the potential of PGS as a screening tool which may assist in the early prevention of common disease.
​
The preprint for "A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk" is available at: https://www.medrxiv.org/content/10.1101/2023.06.12.23291186v1
April 13-14, 2023
INTERVENE analyst workshop in Siena
Analysts from across the project met up for a two-day workshop in beautiful vernal Siena, Italy to discuss the status and future plans of the project. The meeting took place at the University of Siena’s Historical Aula Magna with plenty of visual inspiration for highflying ideation.
The first day of the workshop was dedicated to alignment and discussion on the current status of ongoing and planned work. Following opening words from INTERVENE coordinator Andrea Ganna, project groups gave presentations on the status, opportunities and possible challenges in the project. This was followed short teaser presentations from partner biobanks for a discussion of new data modalities available at each INTERVENE biobank.
​
The second day of the workshop was devoted to the planning of upcoming work, task allocation, and work on analyses or deliverables. The day started with group discussions on machine learning for epidemiology & improving PRS and biomarker trajectories & utilizing available omics data. The workshop concluded with a one-hour session for presenting the outline of the upcoming scientific papers from INTERVENE.
This was a very inspiring workshop that helped form many new and great ideas. Thank you to all presenters, discussion leaders, and other participants!
March 7, 2023
INTERVENE featured in German newspaper Tagesspiegel
Today, INTERVENE was featured in German newspaper Tagesspiegel, with Henrike Heyne and Christoph Lipper of Hasso Plattner Institute commenting on INTERVENE and the possibilities to improve predictions of the individual disease risk and progression by application of AI-based technologies to a large pool of genomic and health data.
​
December 24, 2022
Merry Christmas and A Successful 2023!
As the year 2022 is on its final stretches, we want to wish all INTERVENErs, collaborators, and other stakeholders Happy Holidays and a happy new year 2023!
December 1, 2022
Polygenic risk scores or family information? Why not both?
How do polygenic risk scores complement family history information? A recent paper from INTERVENE researchers leverages family relationships, 50 years of nationwide registries, and genome-wide genotyping seeks to find out by examining the interplay of family history and genome-wide polygenic risk scores across 24 common diseases. The article shows that family history and PRS are independent and not interchangeable measures, but instead provide complementary information on inherited disease susceptibility. The PRSs explained on average 10% of the effect of first-degree family history, and first-degree family history 3% of PRSs, and PRS effects were independent of both early- and late-onset family history. The PRS stratified the risk similarly in individuals with and without family history. In most diseases, including coronary artery disease, glaucoma, and type 2 diabetes, a positive family history with a high PRS was associated with a considerably elevated risk, whereas a low PRS compensated completely for the risk implied by positive family history. This study provides a catalogue of risk estimates for both family history of disease and PRSs and highlights opportunities for a more comprehensive way of assessing inherited disease risk across common diseases.
November 4, 2022
INTERVENE featured in the ASHG Thought Leadership Series
A new INTERVENE video is out on our YouTube channel. In connection with the Annual Meeting 2022, we hosted a film crew to sit down with our research leaders and talented analysts to talk about the mission of INTERVENE, and the potential for polygenic risk scores in informing better health care decisions going forward. Check out the video below!
November 3, 2022
INTERVENE moves forward with RCT on risk awareness effects on health behaviour
The first of two clinical pilot programmes assessing the impact of genetic disease risk awareness on health behaviour and decision support has now been registered at ClinicalTrials.gov. Led by Mikk Jürisson from the University of Tartu, the registered study will explore to what extent awareness of high polygenic risk for cardiovascular disese (CVD) can influence changes in health behavior among young overweight adults in Estonia.
Another forthcoming study, carried out in Helsinki, Turin, and Siena, will evaluate the impact of polygenic risk information for decision support and primary prevention of breast cancer.
​
The Estonian study will enroll more than 1,500 overweight young adults (ages 25-44) with high either high or low genetic risk for CVD. The trial will be conducted in a primary care setting, for which the high genetic-risk subjects will be invited to visit their family physician. In the course of the first visit, the family physician will assess the participant's health status and will counsel the participant on healthy choices for increasing their level of physical activity and losing weight. If necessary, the physician will start treatment to lower the participant's blood pressure or cholesterol following current treatment guidelines. The participants in the intervention group will be informed of their high polygenic risk for CVD at the start of the study, while the control subjects at the end of the study. There will be three study visits at 6-month intervals. Between visits, the participants will receive reminders via a mobile health application to change their health behavior. At the end of the trial (month 12), the health indicators of the participants will be assessed and compared between the three trial groups. If a significant difference in BMI is found, it will presumably be related to the fact of learning of the high genetic risk, in which case the use of genetic data in primary prevention may be considered effective.
​
Read more about the trial here
October 25-29, 2022
Strong visibility for INTERVENE at the ASHG 2022 meeting
The Annual Meeting of the American Society of Human Genetics is held in Los Angeles, CA on October 25-29, 2022.
​
We are very proud to announce that no less than four talks at the ASHG will be coming from the INTERVENE project:
​
-
Brooke Wolford (Norwegian University of Science and Technology): Variability in lifetime risk of 20 complex diseases across European countries and polygenic score strata in over 1 million individuals
-
Julian Wanner (Hasso Plattner Institute): Potential clinical utility of PRS in disease prognosis. The glass is half full
-
Bradley Jermy (Institute for Molecular Medicine Finland, University of Helsinki): Testing for interaction using >1 million individuals and 20 diseases shows considerable differences in PRS estimates across age groups and sexes
-
Nina Mars (Institute for Molecular Medicine Finland, University of Helsinki): Can genetic associations for disease onset be used to predict disease prognosis? The glass is half empty
​
In addition, Brooke has been selected as a postdoctoral finalist for the prestigious Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research. We wish Brooke and the other speakers best of luck for their talks.
​
Finally, the meeting will also serve as the premier for the short video feature of INTERVENE in the ASHG 2022 Thought Leadership Film Series. To check out the video, click here!
October 12-13, 2022
INTERVENE Annual Meeting 2022
Following nearly two years of Covid-19 imposed travel and meeting restrictions, INTERVENE finally convened for its first consortium-wide, in-person Annual Meeting at Hilton Helsinki Kalastajatorppa for a two day meeting to enjoy excellent science, good food, and the magnificent splendor of Finnish Autumn. In all, approximately 60 INTERVENE members attended the meeting in person, including the INTERVENE Scientific Advisory Board Members, Profs. Cathryn Lewis, Jacques Fellay, and Jukka Corander.
​
The event featured scientific presentations from across the consortium and work packages, small-group planning sessions and interactive workshops. The keynote was delivered by Saskia Sanderson, Chief Medical Scientist at Our Future Health, presenting the new UK-based national health research cohort for early detection and prevention research and approaches for returning polygenic risk scores results to study participants. We thank Saskia for her excellent talk and valuable lessons learned from the Our Future Health project.
​
As we departed on October 13, it was with a renewed and reinforced enthusiasm with new ideas, connections, and perspectives in our carry-on. Our warmest thanks to all speakers, participants, and organizers of this intense, productive and well-executed event. We hope to see you all soon again!
All smiles at the INTERVENE Annual Meeting group photo.
September 10-12, 2022
Two Nature journal papers to start off September
Fall is here, and we are excited to announce two recent papers from the INTERVENE consortium:
​
In a Nature Medicine article, Sakari Jukarainen and colleagues from the Institute for Molecular Medicine Finland, University of Helsinki, ask the question to what extent genetic risk factors impact overall disease burden. The study combines genetic and disease outcome information with data on healthy life years measured by disability-adjusted life years to estimate the effect of genetic variants on the risk of developing 80 major diseases. The results show that genetic risk factors account for a sizable number of healthy life years lost, both at the individual and population level. Given that genetic risk factors seem to have a substantial impact on healthy life years, the framework will help to inform the development and implementation of genetic-based clinical applications.
​
For more information, see the article Genetic risk factors have a substantial impact on healthy life years and a separate commentary by the lead authors.
​
In a paper in Nature Communications, Remo Monti and colleagues from the Hasso Plattner Institute present an improved tool for genetic variant effect prediction to aid discovery and interpretation of genetic associations for rare variants. Using exome sequencing data from 200,000 individuals, the authors compare different gene-based association test across 193 significant gene-biomarker associations, and introduce a new and statistically powerful combination of tests that found 36% more associations than standard implementations. The work will facilitate discovery and interpretation of genetic associations for rare variant diseases, and facilitate the development of new and improved risk scores for INTERVENE.
For more information, see Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes.
June 11-14, 2022
INTERVENE at ESHG 2022
The Annual Meeting of the European Society for Human Genetics was held in hybrid format in Vienna, Austria on June 11-14, 2022.
INTERVENE was strongly represented during the meeting, presenting posters and talks on ongoing work covering the application of polygenic scores for risk assessment and disease progression, as well as a new powerful approach for synthetic data generation.
​
Many thanks to our presenters:
-
Sophie Wharrie (Aalto University): A fast method to generate hundreds of thousands of synthetic genomes and phenotypes (poster)
-
Brooke Wolford (Norwegian University of Science and Technology): Effect of sex and age on disease prediction with polygenic scores in INTERVENE
-
Julian Wanner (Hasso Plattner Institute): Polygenic risk scores for disease progression in clinically related events
-
Bradley Jermy (Institute for Molecular Medicine Finland, University of Helsinki): INTERVENE: exploring the generalizability of polygenic risk scores on disease
June 11, 2022
INTERVENE's Andrea Ganna awarded the 2022 Leena Peltonen Prize
We are happy and proud to announce that Andrea Ganna, FIMM-EMBL group leader and co-coordinator of INTERVENE, has received this year's Leena Peltonen prize at the ESHG annual meeting Vienna. Many congratulations, Andrea!
April 13-14, 2022
Berlin workshop
After nearly two years of COVID-imposed remote work, INTERVENE analysts finally got together for a face-to-face meeting from 13-14 April 2022 in Berlin, Germany. A group of international analysts and representatives from organisations in the project attended the two-day workshop.
February 16, 2022
A review of year 1
In early 2022, INTERVENE underwent a comprehensive scheduled evaluation by the European Commission to examine all project activities so far.
​
November 3, 2021
INTERVENE Annual Meeting
On November 2, 2021 we held the first INTERVENE Annual Meeting, uniting the entire INTERVENE consortium for a collegial day of discussion of performed and ongoing work, and to plan the execution of forward steps. Due to COVID-19 restrictions, the meeting was held virtually.
September 13, 2021
INTERVENE Newsletter
Check out the first newsletter from INTERVENE
June 9, 2021
Ranking the risk of heart disease
Samuli Ripatti appeared in the Nature Outlook discussing his work to identify individuals at high risk of coronary heart disease
February 9, 2021
INTERVENE featured on Genomeweb
News piece on INTERVENE on Genomeweb
January 18, 2021
INTERVENE launched!
We are all set to go! Check out the press release on the launch of INTERVENE