Nyheter | Genomic Medicine Sweden

Sweden’s regions surpass 500,000 completed genomic analyses – national coordination drives precision diagnostics forward

Frida Jones — Mon, 11 May 2026 11:58:44 +0000

More than half a million genomics-based analyses have now been performed in routine healthcare in Sweden. This milestone represents a major breakthrough for precision diagnostics and highlights the results of nearly a decade of national collaboration to make advanced diagnostics accessible to patients across the entire country.

Sweden has reached an important milestone in precision diagnostics, according to an inventory of NGS-based analyses in Sweden conducted in 2025. Over the past nine years, the regions have together carried out more than 500,000 genomics-based analyses in routine healthcare, a clear result of shared initiatives, standards, and investments.

Through advanced genetic diagnostics, healthcare providers can today make more accurate diagnoses and take more precise treatment decisions. The fact that these technologies are now established throughout the country is a direct result of national coordination.

— Shared working methods and coordinated investments are absolutely crucial to ensure that advanced genomics benefits patients equitably and at scale across the entire country. No single region could have achieved this on its own, says Ann Ekberg Jansson, Head of Research and Development in Healthcare at the Västra Götaland Region.

In a short period of time, genomics-based diagnostics have evolved from a future vision into an integrated part of healthcare, particularly in cancer and rare diseases. Genomic Medicine Sweden (GMS) has played a central role in this development, together with the Clinical Genomics platform at SciLifeLab. Through national coordination, shared methods, standards, and infrastructure have made it possible to implement these technologies and make them accessible to patients throughout the country.

The number of analyses continues to increase in line with both medical needs and improved structures for collaboration.

For patients, this development means faster investigations, more reliable diagnoses, and better opportunities for precise, individualized treatment. For healthcare, it means higher quality, more efficient use of resources, and better conditions for knowledge development.

— Reaching more than 500,000 analyses within healthcare demonstrates that our collaborative efforts are delivering results and that the goal of one million analyses by 2030 is entirely realistic with continued effective national coordination. Through joint efforts, we can ensure that Swedish patients gain access to the next step in precision medicine, says Richard Rosenquist Brandell, Director of Genomic Medicine Sweden.

Electronic Informed Consent to Facilitate Research on Rare Diseases

Mikaela Friedman — Thu, 29 Jan 2026 09:00:08 +0000

Research on rare diagnoses and the development of precision medicine depend on patients being able to share their health data in a secure and ethical manner.The research study in which a digital platform was developed to collect electronic informed consent shows that many participants want to contribute to research and appreciate the digital solution, but also that the technology needs further development.

A digital consent platform was tested at three Genomic Medicine Centres in Sweden: in Stockholm, Gothenburg, and Lund. More than 2,200 individuals, who had previously undergone whole-genome sequencing, were invited to give consent electronically for research and data sharing. For those who lacked an electronic identity verification system, or who preferred traditional methods, paper-based consent was also available. As a comparison, a national patient cohort within Undiagnosed Diseases Network Sweden (UDN Sweden)was studied, where recruitment took place in close collaboration with patient organisations.

The results show that eConsent works well for some. Among adult patients, around 30 percent chose to give consent through the eConsent platform, while participation was much lower among families with children. In contrast, participation in the UDN Sweden cohort was very high, 94 percent.

Katja Ekholm. Photo: Rick Guidotti.

“The UDN cohort showed that when patients feel informed, motivated and involved, their willingness to contribute to research is very high,” says Katja Ekholm, one of the first authors of the study and PhD student in rare diseases at the Department of Molecular Medicine and Surgery, Karolinska Institutet

The study identified several challenges, including technical login problems, language barriers, and more complex consent processes for families. At the same time, many participants expressed a strong willingness to contribute to research and appreciated the digital solution.

Hans Ehrencrona. Foto:privat.

Hans Ehrencrona, last author and project manager for the study, as well as co-chair of GMS Rare Diagnoses, comments on the ongoing work:
“In addition to facilitating a modern and more accessible way of giving consent, the digital consent platform is an important long-term infrastructure for research within GMS. A key strength is the ability to also register previously collected paper consents in the database, making them electronically searchable and usable for future research.”

At present, more than 5,000 digital consents are registered in the database, of which nearly 60 percent have been entered manually based on earlier paper consents. This clearly demonstrates the value of consolidating both historical and newly collected consents into a shared digital solution.

In summary, the study shows that electronic informed consent has the potential to strengthen patient involvement and make research on rare diseases more accessible, provided that the solutions are flexible, inclusive, and adapted to the diverse needs of patients.

The study was carried out within Genomic Medicine Sweden and funded through a Vinnova project applied for in collaboration between GMS, Region Stockholm, Region Skåne, Region Västra Götaland, Uppsala University, and the Swedish National Organisation for Rare Diseases. Individual researchers in the project were also funded by the Swedish Research Council and the Swedish Brain Foundation.

Publication

“Implementing electronic informed consent in rare disease genomics” Katja Ekholm, Annelie Augustinsson, Johan Sundström, Christian Johansen, Maria Storgärds, Lena Ljöstad, Fulya Taylan, Eva Ekblom, Stephanie Juran, Marlene Ek, Charlotta Ingvoldstad Malmgren, Maria Johansson Soller, Mikaela Friedman, Sofia Thunström, Lovisa Lovmar, Ann Nordgren, Hans Ehrencrona, Anna Lindstrand. Scientific Reports, 2025 Dec 23;15(1):44419. doi: 10.1038/s41598-025-32740-1.

Image: iStock photos.