On 1 June 2026, Genomic Medicine Sweden (GMS) and the Hartwig Medical Foundation (Hartwig) signed a Memorandum of Understanding (MoU) to accelerate precision oncology for cancer patients in Sweden, the Netherlands, and beyond.

The agreement establishes a strategic partnership to advance the implementation of whole genome sequencing (WGS) in routine clinical care and to speed up the translation of genomic insights into tangible patient benefits. It also enables the secure and efficient secondary use of genomic and clinical data across national borders.

This partnership marks an important step towards making precision oncology a standard and equitable part of cancer care. By aligning our efforts with Hartwig, we can more rapidly translate genomic knowledge into improved patient outcomes in Sweden and internationally, says Richard Rosenquist Brandell, Director of Genomic Medicine Sweden.

The collaboration brings together two of Europe’s leading national initiatives in genomic medicine. By combining Sweden’s established infrastructure for genomic diagnostics with Hartwig’s expertise in sequencing, bioinformatics, and data platforms, the partners aim to give patients faster and more equitable access to high-quality diagnostics while advancing research that benefits patients worldwide.

By standardizing, harmonizing, and enabling federated analysis of cancer genomics data, we can learn from far more patients than any single initiative could alone—and translate these insights into clinical benefit more quickly,” says Edwin Cuppen, Scientific Director of Hartwig Medical Foundation.

Direct benefits for patients

The MoU defines four priority areas with clear clinical impact. GMS and Hartwig will:

• Advance WGS as a standard diagnostic tool for adult patients with acute leukemia

• Validate and implement the OncoAnalyser tool (based on Hartwig’s WiGiTS platform) for hematological malignancies

• Evaluate and progressively introduce WGS for selected solid tumors

• Harmonize data models for genomic and associated clinical data

Together, these efforts aim to shorten the time from sequencing to actionable results, improve the quality and comparability of diagnostic reports, and enable knowledge sharing across healthcare systems.

Enabling secondary use of data

A key ambition of the partnership is to unlock greater value from genomic and clinical data generated in routine care. Through standardized and harmonized data models, the collaboration will support research, quality assurance, and the development of new diagnostics and treatments.

In the longer term, the partners aim to enable federated analyses, allowing researchers and clinicians to analyze data across countries without transferring sensitive information. This approach strengthens data privacy and compliance with national regulations, while increasing dataset value, statistical power, and clinical insight.

About Hartwig Medical Foundation

Hartwig Medical Foundation is a Dutch, independent, non-profit organization dedicated to improving cancer diagnosis and treatment through large-scale genomics and data-driven precision medicine. The organization was founded in 2015 by oncologist Emile Voest and entrepreneur Rob Defares.

Related link

Hartwig Medical Foundation: https://hartwigmedicalfoundation.nl/en

A new Lancet Commission on Precision Health has been launched to develop a comprehensive framework for integrating precision approaches into health systems worldwide. Researchers from Karolinska Institutet, Lund university and Genomic Medicine Sweden are contributing to the work, with a particular focus on ensuring equitable access, including in resource-limited settings

The Lancet Commission on Precision Health brings together experts from around the world with the aim of developing the evidence base for a final report that will provide recommendations on how precision health can be implemented equitably at a global level. The work is led by Chair Paul Franks, Professor at Lund University and from Karolinska Institutet participates Richard Rosenquist Brandell, Anders Kämpe and Zahra Haider.

Working groups map different areas

“I lead one of the working groups focusing on mapping how precision medicine and precision health have been implemented globally to date, as well as assessing the extent to which individuals have access to these approaches,” says Richard Rosenquist Brandell, Professor of Clinical Genetics, the Department of Molecular Medicine and Surgery, Karolinska Institutet and Director of Genomic Medicine Sweden.

Richard Rosenquist Brandell. Photo: Cecilia Österholm Corbascio

“As part of this work, we will analyze the types of infrastructure and competencies required to enable precision health, and identify the changes needed to make this feasible going forward,” he continues.

The Commission focuses on cancer, cardiometabolic diseases, respiratory disorders, and mental health. The goal is to formulate concrete and actionable recommendations for how precision health can be integrated into the future of healthcare systems, regardless of varying economic conditions.

“This is critically important work, particularly to ensure that advances in precision health do not contribute to widening disparities, either between or within countries. A central focus is to promote equitable access, especially for underrepresented groups,” says Richard Rosenquist Brandell.

Read the full news article from Karolinska Institutet.

Publication

The Lancet Commission on precision health: equitable, data-driven health outcomes for all.
Franks PW, Lim LL, Ramsay M, Chotirmall SH, Abedalthagafi MS, Ali R, K SB, Ford J, Giordano GN, Hamdi Y, Kieling C, Leal J, Li F, Lopes-Cendes I, Lyons L, Misra S, Owolabi MO, Rosenquist R, Tandon N, Tsosie KS, Udler MS, Smeden MV, Verguet S, Wason J
Lancet 2026 May.

Photo: Lancet Commission Precision Health kick-off meeting in Kuala Lumpur (Dr. LIM Lee-Ling) 

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.

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.

Pharmacogenomics is the field of research that investigates how our genes influence the body’s response to medicines. By understanding these genetic differences, treatments can be tailored to each individual, reducing the risk of side effects and increasing the likelihood that the medicine will work as intended.

Genomic Medicine Sweden (GMS) is now investing in a national pharmacogenetic gene panel analysed with modern sequencing technology. The panel covers all genes where variations have been shown to be important for the choice of medicine and dosage. It has already been developed and validated at two of the country’s Genomic Medicine Centres.

Read the full press release from the Ministry of Health and Social Affairs here (in Swedish).

The government has decided on a national coordination structure for precision health, with the goal that all patients will have equal access to the personalised care of the future. The assignment has been given to the National Board of Health and Welfare, which, together with the regions, Genomic Medicine Sweden, SciLifeLab and other stakeholders, will contribute to ensuring that new diagnostic methods and treatments are introduced in an equitable way across the country.

The new coordination means that the state is taking clearer responsibility for ensuring that precision health, where advanced diagnostics and data analysis are used to tailor treatments, is implemented uniformly throughout Sweden. This is a crucial step to avoid regional differences and to strengthen the quality and efficiency of healthcare.

Genomic Medicine Sweden has, since its inception, worked to integrate precision diagnostics and medicine into Swedish healthcare. The national coordination is fully in line with Genomic Medicine Sweden’s vision that all patients should have access to precision diagnostics and treatment, that collaboration between university hospitals, regions and academia should be strengthened, and that Sweden should be a leader in research and innovation related to precision health.

Genomic Medicine Sweden will be part of the steering group that the National Board of Health and Welfare will appoint for the coordination structure. The Board’s assignment also includes developing models for how funds should be allocated to the regions for a five-year implementation programme for precision diagnostics and for long-term support to Genomic Medicine Sweden through a government regulation.

The National Board of Health and Welfare will also allocate additional funds to Genomic Medicine Sweden for coordinating a national implementation project in pharmacogenetics.

“This decision is an important recognition of the work already being done within Genomic Medicine Sweden. Through national coordination, we can, together with regions, academia and patient organisations, create the conditions for precision health to become accessible to all patients, regardless of where in the country they live,” says Richard Rosenquist Brandell, Director of Genomic Medicine Sweden.

With a national collaboration structure and an implementation programme for precision diagnostics, new diagnostic methods can be introduced more quickly into clinical practice and patients can receive more targeted treatments and better prognoses. The government’s announcement signals a clear direction for the future of healthcare, and Genomic Medicine Sweden will continue to contribute expertise, infrastructure and research to ensure that the initiative delivers real benefits for patients and healthcare professionals.

Genomic Medicine Sweden looks forward to working closely with the government, regions and other stakeholders to realise the vision of equitable and modern precision health throughout the country.

Read the press release from the Ministry of Health and Social Affairs (in Swedish).

Image: SciLifeLab Clinical Genomics Solna. Photo: Samuel Avraham.

Genomic Medicine Sweden (GMS) has published the report Collaboration in Precision Medicine since 2017, which summarises recent developments in precision medicine in Sweden. The report shows how national collaboration between healthcare, academia, government agencies, patient organisations, and industry has, in just eight years, contributed to more patients gaining access to more accurate diagnostics and personalised treatment.

Since its inception in 2017, GMS has established seven regional Genomic Medicine Centres, implemented whole-genome sequencing in healthcare for rare diseases and childhood cancer, and developed national gene panels for blood cancers and solid tumours. Another important milestone is the creation of the National Genomics Platform (NGP), which enables secure storage and sharing of genomic data across the country.

“The report clearly shows the tremendous journey GMS has made since its start. It reflects the strength of national collaboration and how far we have come in making precision medicine accessible to patients throughout the country. We can now truly see the results of the combined efforts of healthcare regions, universities, and our partners—not least patient organizations and companies,” says Mats Ulfendahl, Chair of the GMS Steering Group and Director of Research at Region Östergötland.

The report also includes stories from patients who have received diagnoses and treatments thanks to genetic analysis, as well as examples of how GMS’s work has helped strengthen Swedish research, innovation, and international collaboration.

Read the report: Samverkan inom precisionsmedicin sedan 2017 (October 2025), in Swedish

Photo: Liza Samuelsson

FOCU.SE is a new Swedish study in which genetic analysis of tumours is used to match cancer patients with targeted drugs outside of approved indication. The aim is to give more people access to effective treatment, while gathering valuable knowledge for the future.

In the national clinical study FOCU.SE, approved drugs will be tested on new patient groups with advanced cancer where treatment options have been exhausted. By analysing the genetic profile of the tumours, patients can be matched with targeted therapy. Even before the study has begun, four targeted drugs have been secured. More drugs will be included as the study progresses. As part of the Swedish government’s investment in precision health, the study is being funded with SEK 44 million.

“We are delighted with the support from the government which enables us to now launch the FOCU.SE study. With the FOCU.SE study, we can provide targeted treatments in a structured way to patient groups where it is otherwise difficult to conduct large drug studies, such as pancreatic cancer, bile duct cancer and sarcoma,” says Edvard Abel, medical director at the Clinical Trial Unit Oncology Sahlgrenska University Hospital and responsible for the study.

Digital collaboration on treatment decisions

A central part of the study is the so-called molecular tumour boards, where the results of the analyses are discussed to determine whether any of the study’s treatments may be suitable for the patient. The Molecular Tumor Board Portal (MTBP) tool – a digital platform and clinical decision support system for test results and data – will be used as support. With the help of this tool, doctors from different hospitals can participate in national conferences and discuss treatment options in real time.

The technical solution was first tested within the European research collaboration Cancer Core Europe and is now being adapted for national use in Sweden.

Patient council contributed to study protocol

Early on in the development of FOCU.SE, a patient council was formed, which has been active in developing study protocols and consent forms.

“We have shown how important it is for patients to be involved early on in the design of studies. Our commitment has also made it easier to include patients in the study”, says Margareta Haag, patient representative and chair of the Network Against Cancer:

Edvard Abel agrees:

“Working with the patient council has been time well spent and a great benefit to the entire project.”

Valuable knowledge for future treatment decisions

FOCU.SE makes it possible to systematically follow up on treatments outside of approved indications. This generates new knowledge about the effects and side effects of treatments – knowledge that can form the basis for future approvals and better treatment decisions.

In addition, FOCU.SE serves as a national platform for molecular testing, enabling patients to be identified more quickly for participation in other studies.

“The established collaborations for data sharing with similar studies provide entirely new opportunities to quickly answer research questions that are difficult to address in a single country. The ability to continuously add new drugs is also built into the study design. The broad genomic profiling that is carried out can both support clinical decisions and help identify patients for other studies. In this way, FOCU.SE, in collaboration with industry and international initiatives, can become a key to more clinical trials in Sweden,” says Anders Edsjö, senior physician in pathology at Region Skåne and deputy director of GMS.

About FOCU.SE

• FOCU.SE has been developed within the framework of the Testbed Sweden Precision Health Cancer project, with funding from Vinnova and Swelife.
• The project is backed by a broad consortium of stakeholders, including Genomic Medicine Sweden (GMS), SciLifeLab, university hospitals, the Swedish Institute for Health Medical Economics, the Stockholm School of Economics, industry partners and patient organisations.
• FOCU.SE is being conducted at all university hospitals in Sweden, which means that patients from across the country can participate.
• The study is a continuation of the work in the previous regional study MEGALiT and is being conducted in collaboration with several European countries within the EU projects PCM4EU and PRIME-ROSE, with focus on drug repurposing, i.e. evaluating existing drugs for new cancer indications.
• The first four targeted drugs in the FOCU.SE study are Olaparib, Amivantamab, Tepotinib and Ivosidenib, all secured through collaboration within PRIME-ROSE.

Despite rapid advances in genome and exome sequencing, many individuals with rare diseases remain undiagnosed. In a perspective article published in Nature Genetics, researchers highlight how long-read whole genome sequencing, LR-WGS, offers a paradigm shift in genetic testing.

Jesper Eisfeldt. Photo: Rick Guidotti.

Long-read whole genome sequencing, LR-WGS, allow for the detection of previously unrevealed genetic variants, such as complex structural rearrangements, repetitive sequences, as well as epigenetic alterations, offering a more complete picture of the genome.

“With long-read sequencing, we can now access parts of the genome that were previously invisible – complex variants and structural changes that we know play a crucial role in rare diseases”, says first author Jesper Eisfeldt, bioinformatician at Karolinska Institutet.

The article describes the Swedish national efforts bringing LR-WGS into clinical practice. Hundreds of individuals have already been analysed though the Genomic Medicine Sweden (GMS) initiative, and a prospective study of 1,000 individuals with neurological conditions is underway. LR-WGS has shown promise in increasing diagnostic yields and could eventually replace multiple standard genetic tests with a single, comprehensive assay.

Anna Lindstrand. Photo: Stefan Zimmerman.

“We envision a future where long-read sequencing replaces the full spectrum of genetic tests currently used in clinical diagnostics”, says corresponding author, Anna Lindstrand, professor and consultant physician at Karolinska Institutet/Karolinska University Hospital and co-chair GMS Rare diseases.

The authors are supported by the Swedish Research Council, Region Stockholm, the Swedish Brain Foundation, the Swedish Cancer Society, and the Rare Diseases Research Foundation.

Publication

Toward clinical long-read genome sequencing for rare diseases Jesper Eisfeldt, Marlene Ek, Magnus Nordenskjöld, Anna Lindstrand. Nature Genetics 2025 May. doi:10.1038/s41588-025-02160-y

Image: DNA helix. Photo: Getty images