In Denmark, we are highly committed towards implementing personalised medicine across our healthcare system. We have successfully established a national infrastructure for offering whole genome sequencing in healthcare and storing these genomic data to be utilized in research. However, precision medicine is more than genetic data. Precision medicine is data-driven medicine.
With this conference we will bring together professional experts e.g. researchers and relevant stakeholders to share knowledge and learn from other great Nordic and European initiatives, nourishing the common ambition of facilitating more efficient and precise treatment by utilising health data in the best possible way.
The conference is aimed at a wide national and international audience working within the area of personalised medicine and data-driven healthcare, including patient organisations, clinicians, researchers, industry representatives, politicians, administrative staff and journalists.
The conference is supported by the Novo Nordisk Foundation.
Sophie Løhde
Minister for Interior and Health, Sophie Løhde, will open the conference with a presentation on the political priorities for personalised medicine in Denmark and Europe.
Fotograf: Venstre
Conference Opening Summary
Personalised Medicine: Political Priorities in Denmark and Europe
Sophie Løhde
Minister for Interior and Health, Denmark
Sophie presented current political priorities for personalised medicine in Denmark. She commended Denmark’s current capacity, where the Danish National Genome Database already holds over 50,000 genomes, while highlighting the need for more progress. Under the new strategy for personalised medicine (PM), Denmark recognises that PM is key to the future of healthcare and, therefore, the strategy aims to broaden the focus from genomics to encompass the entire patient journey. Moving forward, Denmark aims to be a frontrunner in PM, including in the use of the Danish health data as well as AI, and ATMPs – this requires that we maintain the high level of national trust, listen to patient voices, uphold high ethical standards, focus on data reforms, and implement legal reforms.
Sessions
From genomic data to personalised medicine: Where are we and what is the goal?
Personalised medicine is more than genetic data. Personalised medicine is data-driven medicine. Therefore, the purpose of this session is to formulate the overall ambitions and goals for a data-driven healthcare system, and to identify barriers and strategies for the dream scenarios to come true.
Meet the speakers below
Session 1 Summary
Personalised medicine is more than genetic data. Personalised medicine is data-driven medicine. Therefore, the purpose of this session is to formulate the overall ambitions and goals for a data-driven healthcare system, and to identify barriers and strategies for the dream scenarios to come true.
Implementing WGS in Health Care – Insights from the Danish National Genome Center
Bettina Lundgren
Center Director, DNGC, Denmark
Bettina presented experiences from implementing whole genome sequencing (WGS) in Danish healthcare, including progress, lessons learned, and challenges. Denmark has made significant progress in personalised medicine (PM) through strong political commitment, legislation, and collaboration with the regions. The combined efforts have enabled the implementation of WGS into clinical practice and the establishment of the new HPC at the DNGC. Looking to the future, the new PM strategy is ambitious and will make the current data infrastructure stronger and more effective, broaden the scope of PM beyond genomics, and enhance public private partnership (PPP). At the international level, collaboration and common standards are crucial, particularly in the context of the European Health Data Space (EHDS). Denmark aims to contribute actively to Europe’s movement towards data-driven healthcare.
The Treatment of the Future is Tailored to the Individual Patient
Film by DNGC
Bettina presented experiences from implementing whole genome sequencing (WGS) in Danish healthcare, including progress, lessons learned, and challenges. Denmark has made significant progress in personalised medicine (PM) through strong political commitment, legislation, and collaboration with the regions. The combined efforts have enabled the implementation of WGS into clinical practice and the establishment of the new HPC at the DNGC. Looking to the future, the new PM strategy is ambitious and will make the current data infrastructure stronger and more effective, broaden the scope of PM beyond genomics, and enhance public private partnership (PPP). At the international level, collaboration and common standards are crucial, particularly in the context of the European Health Data Space (EHDS). Denmark aims to contribute actively to Europe’s movement towards data-driven healthcare.
Dream Scenarios for a Data-Driven Healthcare System
Clinician’s Perspective: Putting the Patient at the Center of Clinical Care
Britt Elmedal Laursen
Consultant, Associate Professor, Department of Molecular Medicine & Department of Oncology, Aarhus University Hospital, Institute of Biomedicine, Pharmacology & Precision Medicine, Aarhus University, Denmark
Britt shared a clinical perspective on integrating genomic data into oncology practice. In Denmark, patients with incurable cancer are offered WGS to target their treatment, with nearly 300 patients reviewed at national molecular tumour boards in the last three months of 2024. Britt shared examples where WGS enabled targeted treatments and long-term remission in patients with terminal disease. Moving forward, she advocates for expanding the access of WGS to reach more patients, improving data analysis through the development of knowledge databases such as frequency- and variant databases, adopt new sequencing technologies (e.g. long-read sequencing), and incorporating other “omics”-data. However, challenges remain as patients still struggle to get access the necessary targeted treatments, pointing to the need for better implementation pathways.
Researcher’s Perspective: Unleashing the Potential of Danish Health Data for Precision Healthcare
Sisse Rye Ostrowski
Professor, Consultant, Head of Research, Head of Studies for Master’s Programme in Personalised Medicine, Rigshospitalet and University of Copenhagen, Denmark
Sisse discussed the potential of Denmark’s unique health data resources to advance research in personalised medicine. She pointed to opportunities in combining genomic and registry data for data-driven research to improve our understanding of diseases, treatment, and prevention, while noting the importance of addressing ethical, technical, and organisational barriers. She called upon politicians to enable legislation that allows for better use of existing data, ensure transparency for patients and security for researchers, create a steady foundation for projects to continue smoothly, and expand technical competencies for effective data use.
Industrial Perspective: Conditions for an Effective Implementation of Personalised Medicine
Ida Sofie Jensen
CEO, Danish Association of the Pharmaceutical Industry (Lif), Denmark
Ida presented the life science industry’s perspective on creating sustainable conditions for personalised medicine. Denmark already has a strong tradition of public-private partnerships, which are essential to realising national PM goals. She stressed that optimal implementation requires political focus and trust, a robust digital health system, removing legal barriers to progress, building new competencies and capacity in the health sector, the coupling of genomic and clinical data, developing new models for payment, evidence gathering, and risk-sharing (especially for ATMPs), strengthening ATMP Denmark as a single-entry knowledge centre, and a Medicines Council that supports innovation. Ida highlighted that industry is ready to support clinical practice and work in new collaborative models, but the central message: public and private need each other to succeed with the ambitious new strategy for PM.
Barriers and Strategies for Designing a Data-Driven Healthcare System
Digital Health Denmark and the Vision for Better Use of Healthcare Data
Thomas Fredenslund Director General, and Jacob Hartmann Sørensen, Head of Programme
Danish Health Data Authority, Denmark
Thomas outlined the vision for Digital Health Denmark, focusing on better use of healthcare data to support innovation, collaboration, and system efficiency. Digital Health Denmark is the biggest health reform in 20 years, bringing together 20 years, bringing together five organisations (including SDS, NGC, MedCom, sundhed.dk) into one unified body, with the purpose to use health data to support communities, improve patient care, strengthen innovation, and improve system response. To follow, Jacob introduced the Vision for Better Use of Health Data, which aims to establish a more simple and seamless access point for health data. This would offer a better user experience and stronger analysis ecosystem.
Data-Driven Healthcare: Experience of the NHS Genomic Medicine Service
Dame Sue Hill
Professor, Chief Scientific Officer for England & Senior Responsible Officer for Genomics in the NHS, NHS England, United Kingdom
Sue shared lessons from the National Health Service (NHS) Genomic Medicine Service, describing how an ambitious and long-term political focus has made UK a world leader in genomics. The strategic and collaborative approach has created an organisation that effectively supports the use of genomics for both healthcare, research and innovation to the benefit of patients. A wide range of genomic initiatives have successfully been integrated into the national healthcare delivery and by 2035, genomics is expected to be a part of up to 50% of healthcare episodes/interventions. Novel initiatives include developing a Unified Genomic Record that will provide a single point of administration and access to genomic data for each patient. Sue underscored that success in the implementation of genomics depends on strong political and health system leadership and close collaboration with partners to rapidly reuse data for patient benefit.
Data-Driven Personalised Medicine in Sweden
Richard Rosenquist Brandell
Professor, Clinical Genetics at Department of Molecular Medicine and Surgery, Karolinska Institutet, Sweden
Richard presented the Swedish experience with a bottom-up approach to data-driven personalised medicine, where the regionally organised Swedish healthcare system has been integrated through Genomic Medicine Sweden. He explained how the National Genomics Platform supports clinical practice and research, enabling the rapid uptake of genomics in healthcare, particularly in rare diseases. Richard highlighted an upcoming roadmap for implementing precision medicine in Swedish healthcare by combining projects and initiatives to further drive(?) the development of personalised medicine and accelerate the integration of research discoveries to be used in healthcare.
Building a Data-Driven Healthcare System: Challenges, Strategies, and Insights from the Health Data Hub
Emmanuel Bacry
Scientific Director, Health Data Hub, France
Emmanuel presented the role of the French Health Data Hub (HDH) in advancing personalised medicine. The HDH is a public health data platform that provides a single secure gateway to, and a catalogue of, national databases, supporting diverse partners and projects. It was built on the French National Healthcare Data System (SNDS) (covering the French population of 67 million people with >20 years of data, including reimbursement and clinical data). In 2019, it was expanded with additional health databases, and aiming to incorporate public health databases in the future. He highlighted that access to the HDH builds on substantial HPC capacity, storage, and secure analysis environments, enabling the integration and scaling of diverse data sources to benefit both clinical practice and research. Looking ahead, AI initiatives such as the SHAPID project are of major interest.
Summing Up the Common European Challenges
Stinus Lindgreen
Researcher and Member of Parliament, Social Liberal Party, Denmark
Stinus provided a synthesis of common European challenges in building data-driven healthcare systems from the perspective of policymakers. He shared how progress in genomics and PM was initially moving slower than expected, but is now rapidly advancing with the development and implementation of new technologies including “omics”. He highlighted that shared challenges across Europe include maintaining trust while sharing data, making better use of the extensive data currently available, that legislation often lags behind technology, and overly complex access processes. He emphasised that by tackling these challenges, we can enable innovation.
Q&A
The Q&A session focused on how to transform healthcare towards PM to improve patient outcomes and efficiency of the healthcare system. The speakers highlighted the need for political courage and sustained focus to realise the benefits of genomics and make better use of the existing data, for example, to improve treatments or support the transition from a reactive to a proactive healthcare system. Speakers agreed that diagnostics and treatments must be planned and funded together, to give patients access to the right treatment, combined with new risk-sharing reimbursement models helping to spread costs fairly. The shift toward more personalised medicine, including predictive medicine, offers promise but also raises ethical questions and requires competence building and rethinking of how the healthcare system is organised. The UK experience showed that political support depends on proving the system can deliver and keeping a clear, consistent message about the benefits. Overall, strong collaboration between health systems and industry, as well as international collaborations, is seen as key to improving access and outcomes for patients while supporting the transition to personalised, data-driven healthcare.
Infrastructure requirements, data standards and competencies to support personalised medicine and a data-driven healthcare system
This session focuses on unpacking the practical implications when designing and implementing a true data-driven healthcare system. What are the requirements, barriers and bottlenecks regarding it-infrastructures, data standards and competencies both at a local-, national- and EU-level?
Meet the speakers below
Session 2 Summary
This session focuses on unpacking the practical implications when designing and implementing a true data-driven healthcare system. What are the requirements, barriers and bottlenecks regarding it-infrastructures, data standards and competencies both at a local-, national- and EU-level?
Collecting and Utilising Data in the Hospital
Back to Basics: Using Data to Meet Clinical Needs
Dr Laura Anne Whelan
PhD, Lecturer in Human Genetics and Genomics, Project Management Lead, Genomic Data Infrastructure Ireland and Genome of Ireland, RCSI University of Medicine and Health Sciences, Ireland
Laura presented the Irish experience with genomic data infrastructures, noting Ireland’s strong foundation in genomics and its renewed efforts to strengthen infrastructure. The focus is on simple, actionable steps: developing Genome of Ireland (a national reference genome cohort, in line with GoE) to illuminate population genetics, inform research, and improve clinical decision-making; and repatriating data to enable reanalysis and future use. She emphasized the ambition to remove barriers between research and healthcare and to advance genomics through clearly defined steps.
The Value of Data Sharing: A Health Economics Perspective
James Buchanan
Senior Lecturer, Health Economics and Policy Research Unit (HEPRU), Queen Mary University of London, United Kingdom
James explored the value of data sharing from a health economics perspective. He outlined that data sharing supports more robust economic evaluations and enables resource allocation decisions. This can, in turn, facilitate new insights in personalised medicine and result in better diagnostics and more cost-effective treatment. However, economic evaluations measure value narrowly while the value of data sharing for personalised medicine is much broader, resulting in gaps and uncertainties. To tackle uncertainties and harness the potential of data sharing, value frameworks must evolve while direct and indirect empirical evidence is being generated.
New (and Existing) Competencies When Moving to a Data-Driven Healthcare System
Bodil Ørkild
Deputy Director, University Hospital at Herlev and Gentofte, Denmark
Bodil discussed the competencies required to support a transition to data-driven healthcare. She highlighted that Denmark generates vast amounts of valuable data (CPR system, biobanks, EHRs), and with improved data quality and standardisation, this resource could be even more impactful. Strengthening competencies in data engineering and bioinformatics, clinical data use, and hospital leadership will help Denmark fully engage in the EHDS. Moving towards a data-driven healthcare system will also benefit from a digital-first strategy, cultural change in hospitals, and strengthened trust between hospitals, countries, and patients.
Questions
The Q&A focussed on how to utilise hospital data to improve healthcare throughout Europe. While healthcare has always collected data, the big changes today are the vast amount of available data and the chance to share it across sectors and borders. However, systems are still fragmented across sectors, regions, and borders, with different levels of and standards for digitalisation. Harmonisation and standardisation can support sharing of data, while the establishment of common principles and standardised frameworks for assessing value and costs can streamline the assessment process to determine cost-effectiveness in a particular country or setting. Public-private partnerships could help but data must be compatible and shareable. Participants highlighted the importance of developing European-made, standardised systems to reduce reliance on external tools such as EPIC. AI could bring big benefits but is slowed by regulations and needs easy-to-use software and better training for healthcare professionals. A key theme was breaking down barriers between research and healthcare, encouraging interdisciplinary collaboration, e.g. between clinicians, IT-professionals and technicians, and building hospital systems that learn and adapt. Lessons from past digitalisation should guide the next steps.
Best Practices from National IT Infrastructures
Infrastructure Requirements, Data Standards and Competencies to Support Personalised Medicine and a Data-Driven Healthcare System
Henrik Ullum
CEO, Statens Serum Institut, Denmark
Henrik outlined that the development of personalised medicine requires knowledge and research, supported by strong infrastructure. Currently, the Danish Biobank Register addresses the need for better and broader data access. Moving forward Denmark has ambitious plans, there are plans to expand registries and biobanks under the new 2025–2027 PM strategy, many future analyses will rely on AI, and Henrik emphasised that we must be ambitious in data collection, moving to personalised prevention that depends on sequencing earlier in life and enabling lifelong PM.
FinnGen and the Finnish Opportunities for Data-Driven Discoveries
Aarno Palotie
Research Director, Institute for Molecular Medicine Finland FIMM, University of Helsinki, Finland
Aarno presented FinnGen as a model for public–private partnership combining genomic and health data in a shared environment for discovery research. He suggested that the implementation and use of infrastructure must be considered in phases: planning and development, use and maintenance, and upscaling. He underlined that there are ongoing national and international challenges of stiff partnership models, siloed infrastructures, and limitations in data collection that must be considered but not seen as deterrents – infrastructures can’t be perfectly planned, you have to start then refine. He stressed that Europe underperforms due to silos, requiring more international collaboration, both in the EU and globally.
How to Combine Data Across Infrastructures and Sectors: Insights from a National Center of Excellence
Tine Jess
Professor, Center Director, PREDICT National Center of Excellence, Aalborg University Copenhagen, Denmark
Tine highlighted challenges in using health data, including silos, legal barriers, and limited knowledge of available resources. Using inflammatory bowel disease as a model, PREDICT integrates data from multiple sources to map disease trajectories, showing that biomarkers can predict Crohn’s disease up to nine years before onset. Key collaborations span France, the UK, and DNGC, with a long-term goal of shifting from treatment to prevention, supported by EU funding. She emphasizes the need to bridge silos, strengthen international collaboration, and build global capacity as healthcare evolves.
The Value of Cross-Border Collaboration
Is EHDS the Answer to All Our Dreams?
Fulvia Raffaelli
Head of Digital Health, European Commission, Director-General on Health & Food Safety, DG SANTE, EU
Fulvia introduced the European Health Data Space (EHDS) and its potential to enable secure cross-border use of health data, highlighting that it is moving from a vision to a tangible reality for EU citizens. She discussed opportunities for patients, researchers, and health systems, as well as implementation challenges. The success of EHDS depends on trust from patients, healthcare professionals, and industry which is supported by GDPR, cybersecurity measures, and legislative measures. Furthermore, it requires sustained investment in digitalisation to create a truly data-driven Europe.
Precision Health National Initiatives
Peter Goodhand
CEO, Global Alliance for Genomics and Health (GA4GH), Canada
Peter described global initiatives for data sharing and the role of GA4GH in setting standards. He shared that the GA4GH mission is to accelerate progress in genomics and health by developing global standards and policy frameworks. They have a goal to sequence 11 million genomes globally which requires greater interoperability and a movement towards global standards and broader health data.
Digital Europe and Genomic Data
Saila Rinne
Head of Artificial Intelligence in Health and Life Sciences, European Commission, DG CNECT, EU
Saila presented the AI Continent Action Plan with the aim to make Europe a global leader in trustworthy AI, where healthcare plays an important role. To realise this vision, AI factories have been selected to work with healthcare data sharing, and a new applied AI strategy is posed to be released soon. Overall, the EU wants to leverage health data infrastructures to create high-quality datasets for AI research and application, supported by initiatives like 1+MG and GDI.
European Genomic Data Infrastructure – How Far Have We Got and What Is the Potential?
Serena Scollen
Head of Human Genomics and Translational Data, ELIXIR (Intergovernmental)
Serena reported on the progress of the European Genomic Data Infrastructure, highlighting that genomic data is the backbone of personalised medicine. She discussed current issues of fragmentation, silos, poor accessibility at national and EU levels, and how interoperable infrastructures are required to integrate genomics with other data types and harness the potential of genomics. By next year, 15 countries will have fully operational GDI nodes, taking us one step closer to accessible, diverse genomic data at scale, feeding into clinical practice to improve patient outcomes.
Bridging Borders, Cultures and Interests - GDI from a Member State Perspective
Troels Tvedegaard Rasmussen
Senior Adviser, Danish National Genome Center, Denmark
Troels offered a national-level perspective on the GDI, emphasising the importance of connecting research and healthcare. He highlighted that Denmark is small and needs collaboration to gain scale – GDI could provide the supportive infrastructure. However, when building this infrastructure, there are challenges to consider, including different incentives, mindsets, and maturity levels across sectors and countries. He highlighted that to overcome these challenges, we need a consistent genomic data infrastructure that is modular, interoperable opportunities and challenges in cross-border collaboration. We also require clear technical standards, governance, accountability, and co-creation.
Personalised Medicine – Collaboration Across the Public and Private Sectors
Diana Arsovic Nielsen
CEO, Danish Life Science Cluster, Denmark
Diana reflected on how public-private partnerships can advance personalised medicine. She pointed to collaboration as key to innovation, emphasising that if we want to move beyond silos, we must first recognise that they exist. When approaching this collaboration, we must keep the patient pathway and focus and make use of actors’ strengths. She underscored that the private sector excels at understanding patients as customers and that the healthcare sector could learn from this. Partners must align on incentives, highlight the value of PM for end users, and create governance structures that support innovation.
Panel Debate: Is Interoperability the Solution to Realise our Ambitions?
The panel explored whether interoperability is truly the key to realising a data-driven healthcare system. Panellists agreed it is a necessary foundation, enabling both primary and secondary use of data, but noted that clear regulatory frameworks, curated datasets, and supportive ecosystems are essential. While the technology exists, differing interpretations of GDPR and fragmented approaches across countries continue to limit progress. Speakers stressed that interoperability alone is not enough—people, incentives, trust, and sustainability must also be in place. Ultimately, success depends on demonstrating the benefits so that patients, clinicians, and systems see value in using the infrastructure.
Exploring ethical and legal perspectives in the development of personalised medicine and a data-driven healthcare system
The design and implementation of a true data-driven healthcare system must be based on a solid legal and ethical foundation. Therefore, the purpose of this session is to explore ethical and legal perspectives in the development of personalised medicine and a data-driven healthcare system in a "data ethical trial" format.
Meet the speakers below
Session 3 Summary
The design and implementation of a true data-driven healthcare system must be based on a solid legal and ethical foundation. Therefore, the purpose of this session is to explore ethical and legal perspectives in the development of personalised medicine and a data-driven healthcare system in a "data ethical trial" format.
Ethical Dilemma Game
Dilemma 1: Genetic Data Across Borders
Dr. Regina Becker, ELSI Fellow, Luxembourg National Data Service (LNDS), Luxembourg
Richard Rosenquist Brandell, Professor, Clinical Genetics at the Department of Molecular Medicine and Surgery, Karolinska Institutet, Sweden
Dilemma one considered genetic data sharing across borders and ask whether researchers should be able to pool data across EU borders if citizens give their consent. Panellists highlighted the need for international collaboration in genomics, especially in rare diseases and cancer, where stratification of patients into small groups make data sharing critical to find the right diagnosis and treatment, and to enable knowledge and innovation. Informed consent was seen as the cornerstone for data sharing, with patients consenting based on clear information adapted to the local setting and their individual needs. While the GDPR provides a framework for secure cross-border data sharing, barriers may arise from national legislation, differing interpretations, and, in some cases, a lack of trust, including at the policy level. Trust was a recurring theme: many patients are interested in sharing their data to enhance knowledge about their condition, provided that the proper safeguards are in place, but policymakers remain cautious. To make data sharing work across borders, panellists highlighted the need for accessible yet secure data collected and stored in a harmonised manner .
Dilemma 2: Private Access to Public Genetic Data
Ida Sofie Jensen, CEO, Danish Association of the Pharmaceutical Industry (Lif), Denmark
Aarno Palotie, Research Director, Institute for Molecular Medi-cine Finland FIMM, University of Helsinki, Finland
Katharina O’Cathaoir, PhD, Associate Professor, Faculty of Law, University of Copenhagen, Denmark
Dilemma two posed a question on the ethics of private access to public genetic data, asking whether private pharmaceutical companies should be able to buy access to national genomic databases. Panellists agreed that access to public genomic data by private companies is essential for innovation, including development of new treatments, provided it serves a clear societal benefit and maintains public trust. Similar considerations were applied to the public sector. Panellists noted that private companies can protect data as securely as public institutions, and are often working only with pseudonymised data. Challenges shared across both the private and the public sector lies in fragmented national rules that make access to data slow and difficult, especially for rare disease where drug development requires cross-border collaboration to reach the necessary volume of patients. A balanced approach is required to enable secure, consent-based use of data while safeguarding patient rights and public trust.
Dilemma 3: AI and Genetic Data: Maintaining Public Trust
Dr. Anne Cambon-Thomsen, Emeritus Research Director at CNRS, Inserm and University of Toulouse, France
Francisca Nordfalk, PhD, Project Manager, National Center for Ethics / Danish Data Ethics Council, Denmark
Gry Hasselbalch, PhD, Academic Director, DataEthics.eu, Denmark
Dilemma three focused on the use of AI in healthcare, posing the question, should we allow AI models to help diagnose patients and suggest treatment? The panel agreed that AI has great potential in genomics, for example, for managing and analysing large amounts of data, or combining datasets to identify better treatments or determine what is cost-effective. However, the use of AI must be guided by strong ethical frameworks and public trust, and be supported by proper governance, transparency, and communication with patients and professionals. The EU was recognised as being relatively quick in developing regulations such as the AI Act and GDPR, though implementation remains complex due to diverse stakeholders and national differences. Also, it was recognised that legislation generally needs time to be developed and implemented to new technologies. Overall, AI in genomics was seen as valuable and necessary, provided it is implemented responsibly, securely, and with clear safeguards – similarly to other novel technologies.
Looking forward
For the dream of a true data-driven healthcare system to come true, we must work together, embrace new technologies, make smart investments and prioritize our efforts. Therefore, the purpose of this session is to look into the future of personalised medicine and a data-driven healthcare, and to discuss political priorities and funding possibilities.
Meet the speakers below
Session 4 Summary
For the dream of a true data-driven healthcare system to come true, we must work together, embrace new technologies, make smart investments and prioritize our efforts. Therefore, the purpose of this session is to look into the future of personalised medicine and a data-driven healthcare, and to discuss political priorities and funding possibilities.
Think Rare: Harnessing AI for the Early Identification of Patients with Undiagnosed Rare Genetic Diseases
Dr. Kym Boycott
Professor, Senior Scientist, Children’s Hospital of Eastern Ontario Research Institute, Canada
Kym presented insights from harnessing AI to identify patients with rare diseases to tackle the well-known challenge with delayed diagnosis in patients with rare diseases. To address this, her team reversed the thinking, using AI to identify patients with a potential rare disease. They developed and validated Think Rare, a rules-based expert system evolving into an AI-enhanced algorithm that identifies patients for whole genome sequencing (WGS). A validation study identified 36 patients to be candidates for WGS, resulting in a 75% diagnostic yield, demonstrating the tool’s effectiveness. She emphasized the profound clinical and emotional value of a timely diagnosis for patients and their families, and shared the vision to improve and share the tool freely to the benefit of other patients. She also emphasised the importance of responsible AI integration, combined with training and competence building in AI frameworks across the healthcare sector.
The Future of PM and a Data-Driven Healthcare System
Bogi Eliasen
Executive Director, Movement Health Foundation, Switzerland / Honorary Fellow, Copenhagen Institute for Futures Studies, Denmark
Bogi shared his visions for PM and healthcare to tackle future challenges such as an ageing population and increased disease burden. He argued for shifting from a technical to an adaptive strategy to utilise healthcare data in a truly data-driven healthcare system. He argued for treating health as a central societal pillar, shifting from reactive, treatment-focused approach to proactive, preventive approaches with balanced investments in prevention and treatment. Underutilised health data and gaps between personalised and public health, the public and private sector, and research and the healthcare sectors limit progress. He advocated 5P Medicine—predictive, preventive, personalised, participatory, and purpose-driven—guided by clear societal goals and strong leadership.
How Does the Novo Nordisk Foundation See the Future?
Mads Krogsgaard Thomsen
CEO, Novo Nordisk Foundation, Denmark
Mads outlined the Novo Nordisk Foundation’s vision to optimise use of Danish health data for innovation and research, to advance prevention and management of disease, particularly for cardiometabolic diseases. He pointed to barriers for unlocking the unique value of the Danish health data, including limited overview of data and databases, complex legal conditions, and limited computational capacity, and described the Foundation’s DKK 200 million investment to create a standardised “one point of access” to accelerate research and innovation. Examples include the REACT project using AI on deep phenotype data from Denmark and Spain to reduce the disease burden in cardiovascular disorders, and CAPTURE-HFpEF using AI to predict disease trajectories for early heart failure detection. Looking ahead, NNF aims to expand funding beyond Denmark to support Nordic, European, and global collaborations.
Practical Information
What:
Danish National Genome Center Conference 2025
Where:
Radisson Blu Scandinavia Hotel, Amager Boulevard 70, 2300 Copenhagen and online
When:
September 8, 2025, from 8:45 AM to 6:30 PM (CET)
Registration opens at 08:00 AM
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