By Deborah Borfitz 

April 15, 2025 | Understanding the trajectory of a disease, including how it developed in the first place, is a bit like reconstructing a crime scene where scientists piece together fragmented information in hopes of mapping out the sequence of events and identifying the culprit. But critical connections can be made by analyzing multi-omics data linked to disease and registry data and turning them into actionable insights at the point of care. 

For cancer and rare diseases, this sort of linkage between research and healthcare has already started to happen. Unfortunately, a lot of the good science coming out of large genomic data sets—including the UK Biobank, All of Us Research Program, The Cancer Genome Atlas, and the international 1000 Genomes Project—are still “snapshots in time,” points out Tuuli Lappalainen, Ph.D., professor of genomics at Sweden’s KTH Royal Institute of Technology and director of the National Genomics Infrastructure at SciLifeLab, a government-supported institution for the advancement of molecular biosciences. 

The best way to learn how to treat or prevent a disease is to use longitudinal data where researchers can track individuals using molecular analysis or biobank specimens together with clinical data documenting changes to their health status over that same period, she says. Efforts are underway to do just that via the Precision Omics Initiative Sweden, or PROMISE, the vision for which was recently published in Nature Medicine (DOI: 10.1038/s41591-025-03631-9) with 41 named authors from academic institutions in Sweden. 

PROMISE aims to generate large-scale multi-omics data, with integration of real-world healthcare data. The intent is to facilitate precision medicine on a national scale by creating a “machine where data flows between research and healthcare in a completely new way,” says Lappalainen. 

One of the key features of PROMISE is a platform recruiting trial participants and returning results, which will likely happen in partnership with genomic medicine centers at university hospitals. This would include clinically relevant genetic findings, for example in rare diseases, pharmacogenomics, and as polygenetic risk scores for complex traits, she says. 

Prospective intervention studies could emerge for testing novel biomarkers in cancer, new ways of conducting population screening, and drug trials where participants are selected based on their omics profile. Sweden also has a population-based registry enabling registry-based randomized clinical trials. 

Critically, creation of a national database would allow researchers to validate polygenic risk scores and other research done in large cohorts elsewhere in a Swedish-only population, she stresses. “A lot of biology is shared between populations, but... you can’t just take a discovery from the UK and slap it onto Swedish healthcare; you need research that validates and calibrates these findings in the Swedish population.”  

Swedish Advantages 

Sweden is well positioned to lead the charge for a multitude of reasons, she notes, including a publicly funded healthcare system. In addition, every resident has been assigned a unique personal identity number and people are highly trusting of public institutions, academia, and doctors. 

SciLifeLab is one of the world-leading institutions providing some of the enabling biomolecular infrastructure in Sweden, Lappalainen says. It offers access to cutting-edge technology platforms across various disciplines ranging from genomics and proteomics to metabolomics, imaging, and bioinformatics. 

Moreover, Sweden has a data-driven life science program, with long-term support from a major Swedish foundation, which is endeavoring to build data analysis capabilities and make use of the large datasets that are emerging in biomolecular science. In a country with roughly 10 million inhabitants, only slightly more than New York City, major stakeholders have come together to lay the foundation for precision and genomic medicine, she says.  

Large-scale research projects in the future would yield even greater benefits from collaboration with other smaller Nordic countries—Denmark, Finland, Iceland, and Norway—which similarly have population-based registries tied to a unique national identity number. “Everyone first needs to get their own house in order,” says Lappalainen.  

Theoretically, it’s possible for any country to adopt some version of this model for translating precision medicine research into clinical practice. Efforts geography to geography would necessarily differ based on the healthcare system setup (e.g., electronic health record) being used and thus the kind of plugins needed to facilitate data exchange and integration with research applications, Lappalainen says. 

The vision of PROMISE is not only to permit scientific discoveries to enhance patient care and health outcomes but to engage international partners toward that end, she adds. Among these is 1+ Million Genomes, which is looking to facilitate the exchange of data and insights between European countries. 

The healthcare system in Sweden is not wholly ideal, as it is sorted into six broad regions that has created some disparities and “headaches” for patient, providers, and policymakers, says Lappalainen. It would be easier to integrate research into the UK’s more centralized National Health Service.  

But, like other Nordic countries, Sweden has an advantage when it comes to its high public and patient engagement and trust in research, as well as a willingness to adopt new technologies, she continues. While Sweden is not the only country hoping to integrate research and healthcare, it is optimally situated to change course. 

Striking the ‘Right Balance’ 

The team is currently putting together a detailed plan for implementation of the vision. Ideally, Sweden will be in a “much stronger position” in another five years when it comes to addressing public health burdens through the application of new precision diagnostic tools and artificial intelligence-driven insights, Lappalainen says. 

Currently, PROMISE is not funded, she adds. But, being a national project, it could receive significant financial support from the government as well as private funders in Sweden and through partnerships with companies developing technologies designed to make research outputs “actionable and accessible to the population.” 

Access to the national database (tentatively termed the PROMISE Data Hub) will be available to qualified researchers with a research proposal that is reasonable and ethically sustainable, she says, but creativity is otherwise to be encouraged and applauded in hopes of seeing “innovations that we can’t even imagine right now.” This has been the track record with other big research consortia, including the 1000 Genomes Project and the Genotype-Tissue Expression project of the National Institutes of Health in the U.S. “That’s the data-driven mindset that we really want to emphasize and empower here.”  

Decision-making about access will fall to a data access committee representing different stakeholder groups who will review research proposals to ensure they are reasonable and that standard data security practices have been followed to respect people’s privacy, says Lappalainen. There will likely be access tiers, which could potentially limit the availability of pseudonymized patient-level data to in-country university researchers. 

Researchers, lawyers, ethicists, and the larger society will engage in discussions about how to strike the “right balance” between facilitating data access to improve public health and data privacy rights, she adds. People need to consent to research use of their data, and in Sweden many residents are “quite happy to do that... if it can help future patients.”  

Finding Clinical Utility 

On the basic research side, topics of potential interest include genetic and molecular risk factors underlying early disease development and categorizing diseases into subtypes to better target treatments and improve patient outcomes. Lappalainen says it is important for researchers to work together with the healthcare system facilitated by infrastructures like Genomic Medicine Sweden. 

“Discoveries are taking place all the time on the research side that could be clinically useful, but most countries really struggle to come up with mechanisms for feeding that information back... to clinicians and providing guidance on what they’re supposed to do with [it],” Lappalainen says. Feedback loops need to be constructed between research and healthcare, expanding on the kind of models already in place for cancer and rare diseases.   

Randomized clinical trials sponsored by pharmaceutical companies are not a core part of PROMISE study design, Lappalainen says, but the initiative could allow those sorts of studies to be conducted “better and cheaper.” The pharmacogenetics field could potentially get a big boost, she adds. Many tests utilize between 50 and 100 genetic markers indicating how individuals might respond to certain drug classes and pathways, including if they are a slow or fast metabolizer.  

Much more of that type of research is happening, but the results aren’t necessarily feeding back into clinical care, as imagined by PROMISE, says Lappalainen. Early research findings could also be more efficiently tested in real-world populations to assess both patient benefit and the impact on health economics.   

“The potential for data-driven precision omics is really transformative,” she reiterates, including the ability to combine data characterizing people’s phenotype with “increasingly rich molecular profiling and genomic data that we can produce at scale now.” The potential for discovery is huge but can no longer be done in an “academic ivory tower.”