NEW YORK – Swedish researchers and clinicians have proposed a new initiative to better integrate omics research and healthcare in the Northern European country, drawing upon its extensive healthcare records and research infrastructure.
Researchers from Sweden's Science for Life Laboratory (SciLifeLab); KTH Royal Institute of Technology; Karolinska Institutet; Uppsala, Lund, Gothenburg, and Umeå universities; and the Swedish Network Against Cancer patient association recently described their plans for the Precision Omics Initiative Sweden (PROMISE) in Nature Medicine.
With a publicly funded healthcare system, registries containing decades' worth of data connected to an individual's 10-digit personal identification number, and technologies for whole-genome sequencing at scale in place, the researchers believe the country can support the endeavor.
"The Nordic countries almost have a responsibility to leverage this data, because this kind of research is hard to do unless you have these types of data available," said Tuuli Lappalainen, a professor of genomics at KTH and director of the National Genomics Infrastructure at SciLifeLab, the corresponding author on the paper. "And when you integrate that data with the multiomics capabilities of SciLifeLab, which ranges from spatial and single-cell assays to genomics, metabolomics, and proteomics, it's very unique."
"From a clinical perspective, I believe PROMISE could have real patient impact and change how we think about clinical investigations," said Anders Kämpe, a physician and researcher at Karolinska Institutet and Karolinska University Hospital and the first author on the paper. "Our hope is that PROMISE will act as a two-way communication channel, where clinically actionable research results will be returned to the healthcare system."
There have been obstacles, though. According to the authors, Swedish genetic and biomolecular research data is "fragmented and difficult to integrate," leaving Swedish researchers reliant on datasets from other countries. While neighboring countries, including Denmark, Estonia, and Finland, have embarked on similar precision medicine programs and established national infrastructures to collect data for biomedical research, Sweden has remained behind.
According to Lappalainen, Swedish law has been "quite restrictive" when it comes to healthcare data, making an initiative such as PROMISE unfeasible. Earlier this year, though, a new law, the Act on Certain Research Databases, came into effect that enables higher education institutions to create databases for future research projects.
Swedish lawmakers, she noted, amended the law not only to enable the PROMISE initiative but also other European efforts around data sharing and genomics research, such as the European Health Data Space and the 1+ Million Genomes initiative. Sweden also updated its national life sciences strategy last fall, which states it is "crucial" for research results to be implemented in the Swedish healthcare system.
"The obstacles are not disappearing, but they are becoming less daunting," said Lappalainen.
Science as the guiding light
While there is no funding for PROMISE yet, its proponents have stated three main goals: generating and integrating large-scale molecular profiling data from research cohorts, maximizing the use of omics data generated within Swedish healthcare for research purposes, and establishing a national database to help integrate research and healthcare data.
While SciLifeLab has the resources to generate and store such data, Genomic Medicine Sweden, a national infrastructure that was set up in 2018 to support the translation of genomics into healthcare, can help with the adoption of new diagnostics.
"There is not so much new that needs to be built totally from scratch," Lappalainen said. "We need to scale, build some capabilities for federated analyses, but a lot of solutions are there in some form."
PROMISE can also draw on the expertise of similar projects, like the UK Biobank and FinnGen and has already received advice from Aarno Palotie, research director at the Institute for Molecular Medicine Finland and scientific director of the FinnGen project.
Existing resources include the Swedish Infrastructure for Medical Population-Based Life-Course and Environmental Research (SIMPLER), which maintains the Swedish Mammography Cohort (SMC) and the Cohort of Swedish Men (COSM), with a total of 110,000 persons. There is also the Swedish Cardiopulmonary BioImage Study (SCAPIS) cohort, which numbers more than 30,000 people; the Northern Swedish Cohort; the Uppsala/Umeå Comprehensive Cancer Consortium (U-CAN); and the Sweden Cancerome Analysis Network-Breast (Scan-B), which is maintained by Lund University.
PROMISE also plans to build out a large cohort of hundreds of thousands of individuals with links to disease and registry data. Lappalainen also expressed a desire to work with industry to develop new technologies and treatments, though no company researchers were part of the proposal. "We wanted to pursue the PROMISE white paper more purely from the academic and clinical side so that the vision is clear," she said. "We want to have science as the guiding light. But the actual initiative will be more inclusive."
She and her colleagues are now looking into what IT solutions are needed, assessing which research cohorts exist and could be used for multiomics studies, and seeking funding to get the initiative off the ground by next year.
They are also hoping to integrate research and healthcare in a new way. "It's time to think about a world where data and insights flow from healthcare into research and findings from research flow back toward healthcare, with the proper testing and trials," Lappalainen said. "Fundamentally, that is the future we should all be heading towards across the world, and Sweden is particularly well positioned to do that."