Skip to main content
Premium Trial:

Request an Annual Quote

Genomic Medicine Sweden Gets $4.7M State Investment to Support Precision Dx Studies


NEW YORK – Genomic Medicine Sweden recently received a SEK 49.5 million ($4.7 million) grant from the Swedish Ministry of Social Affairs to support its endeavors in precision diagnostics. GMS will also use the funding for studies related to childhood cancer and rare diseases and to continue the development of a National Genomics Platform.

More specifically, the new state funding will support four initiatives. These include a SEK 15 million grant for a national pilot in precision diagnostics for children with rare syndromes; SEK 10 million allocated to a pilot of precision diagnostics for clinical studies in cancer; SEK 10 million to establish a precision medicine database in pediatric cancer; and a SEK 14.5 million investment to support genomics data sharing.

Richard Rosenquist Brandell, the director of GMS and a professor of clinical genetics in the department of molecular medicine and surgery at the Karolinska Institutet, noted that the government investment will support work already initiated within GMS, as well as the new pilot projects, which he called "very important for an equal implementation of precision medicine in Sweden, and joint learning." Rosenquist Brandell also said the planned clinical study in cancer is an "important piece of the puzzle" for GMS.

Established in 2017, GMS is a national collaboration that aims to provide equal access to genetic analyses, improved diagnostics, and more personalized care, treatment, and prevention. The collaboration is led by the seven regional health authorities in Sweden, including its university hospitals, and seven universities with medical facilities. Also participating are Sweden's remaining 14 regional authorities, some private sector players, patient organizations, and Sweden's Science for Life Laboratory, or SciLifeLab. GMS both works to implement precision medicine in healthcare and to develop diagnostics. 

According to Mikaela Friedman, a research coordinator at the Karolinska Institutet, GMS's main focuses are on cancer, especially solid tumors, hematological malignancies, and childhood cancers; rare and infectious diseases; and also pharmacogenomics and complex diseases.

With regards to the new government investment, Friedman noted that the GMS Childhood Cancer project has been underway as a pilot study since 2021, with support from the Ministry of Social Affairs as well as the Swedish Childhood Cancer Fund. The study has worked to offer whole-genome sequencing to children with cancer in the country as part of routine diagnostics.

Friedman said that because the pilot project has a "unique profile," as whole-genome sequencing that has been offered to all childhood cancer patients in Sweden since it began, the project has led to a population-based cohort that is "excellent for exploring the value of genomics for early diagnosis."

According to Friedman, more than 800 children to date have received precision diagnostics through the study, and the results from the first 117 patients tested revealed clinically relevant genetic alterations in more than 90 percent of cases. This contributed to a refined diagnosis and the identification of treatment targets for more than half of the children, she pointed out. A paper appeared in JCO Precision Oncology last year that detailed the first results from the pilot study.

In November, the Swedish Pediatric Association recommended that the country's healthcare system adopt whole-genome sequencing as a routine diagnostic test for all childhood cancer patients at the time of diagnosis. Friedman said that Sweden's healthcare regions are now in the process of implementing this recommendation. 

"The funding announced in May from the Ministry of Social Affairs will continue supporting [the goal] that all children in Sweden affected by cancer will get access to whole-genome sequencing, and that genomic data will be uploaded to the National Genomics Platform to make data accessible," said Anders Edsjö, vice director of GMS and section head and senior molecular pathologist at Clinical Genetics and Pathology for Region Skåne in southern Sweden. "Furthermore," he said, "the funding will support the establishment of a precision medicine database in pediatric cancer, combining genomic data, imaging data, and AI."

Another pilot study that will continue thanks to the new funding is a national pilot in precision medicine for children with rare syndromes. According to Rosenquist Brandell, this is another case in which whole-genome sequencing has been implemented in routine healthcare for children with a rare syndrome with malformation and/or intellectual disabilities who lack a diagnosis.

"The aim of the project is to prepare the healthcare system to meet the growing need for whole-genome sequencing and to accelerate the introduction of equitable access to precision diagnostics for patients with rare syndromes," said Rosenquist Brandell.

The third pilot supported with the new funding is focused on implementing precision diagnostics in clinical cancer studies. This will support next-generation sequencing testing for patients in a national study similar to the Netherlands Cancer Institute's Drug Rediscovery Protocol (DRUP) study. The funding will also support exploratory testing with proteomics and liquid biopsies in the research part of the study.

Another goal of GMS is the continued development of the National Genomics Platform for data storage, data sharing, and the analysis of data to identify clinically relevant genetic alterations, Friedman said.

Friedman described the National Genomics Platform as a "data lake" that has been established within the Västra Götalandsregionen healthcare region in the south of Sweden. Agreements are in place that allow the sharing of data between the seven regions and seven universities that are formal partners of GMS, but as of today, this can only be done for research studies with ethical approval.

"We are awaiting a change of legislation regarding secondary use of healthcare data in Sweden," she said.

Currently within the National Genomics Platform, each region has its own repository data, and metadata are retrieved from local laboratory and repository information systems and securely transferred into each region's repository, Friedman said. She said that development is now focused on data storage, indexing, and processing, as well as on operation and security.

"An important development concerns the possibility of being able to share data with clinicians and researchers nationally and, in the long term, also with quality registers, industry and internationally," she added.

According to Friedman, the funding for GMS has come mainly from the Swedish Innovation Agency Vinnova, as well as the partner healthcare regions and universities. But this is budgeted only through mid-2025, and GMS is now discussing with the Ministry of Social Affairs and others to set up a long-term funding model.

She noted that Sweden's university healthcare regions, together with relevant stakeholders in the Swedish life science system, are working to produce a road map for the implementation of precision medicine in healthcare. This combined with other national strategies, such as the country's eHealth Data Strategy, will "most likely be the route in Sweden for the next-coming years."