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) 

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

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

The comprehensive EU project Beyond One Million Genome plus (B1MGplus) has officially started. The new project, funded by the European Commission under the Digital Europe Programme, coordinates and supports the 1+ Million Genomes’ initiative to enable secure access to genomics data across Europe. GMS contributes to B1MGplus primarily through its work within health economics.

The B1MGplus project provides continued coordination and support to the 1+ Million Genomes’ (1+MG) initiative, which brings together 25 EU countries and Norway, and aims to enable secure access to genomics and corresponding clinical data across Europe – for better healthcare for all.

On 11-12 of March, a kick-off meeting for B1MGplus was held in Bucharest, Romania. Representing GMS were Richard Rosenquist Brandell, Director GMS, Oskar Frisell, Co-Chair of GMS Health economics and Mikaela Friedman, Co-Chair of GMS Communication & Education. They participated in the kick-off and workshops on the implementation of personalised medicine and health economics.

To support the 1+MG initiative, the B1MGplus project will focus on four areas:

• Support the preparatory work for the creation and operation of a European Digital Infrastructure Consortium (EDIC)
• Facilitate the strategic orientation of the 1+MG initiative
• Support expert work to enable the uptake of genomics for healthcare and public health purposes
• Develop data quality aspects of the 1+MG Framework

GMS represents Sweden in the B1MGplus project and, together with the Danish National Genome Center, leads the work on health economics. GMS also works in several working groups within 1+MG, for example, on the implementation of personalised medicine, user cases within rare diseases, cancer and infectious diseases, data standards, and more.

– We are very pleased to co-lead the work on health economics in B1MGplus together with the Danish National Genome Center. Health economic evaluations are key to effectively implementing personalised medicine in healthcare and international cooperation is very important, says Richard Rosenquist Brandell, Director of GMS.

The project will enable a sustainable development of the 1+MG initiative by supporting the participating countries to create a federated European genomic data infrastructure. It will be able to provide secure access to genomic and related health data and enable the development of personalised healthcare that will ultimately benefit society.

– It was a very inspiring meeting, and I made many new contacts that will be important for the work going forward. An important message from the health economics workshop is that we should start simply and flexibly to identify key components in how we demonstrate the value of whole genome sequencing, and then be able to work further with more advanced models for evaluating what this type of technology might look like, says Oskar Frisell, Health economist at the Swedish Institute for Health Economics (IHE) and Co-chair of GMS Health economics.

Links

Press release: Beyond One Million Genome plus project launches
1+MG Initiative

Living with an undiagnosed disease poses great challenges for both individuals and families. Through initiatives like UDN Sweden and the world’s first Undiagnosed Hackathon for undiagnosed rare diseases, national and international expertise is coming together to solve the riddles behind these complex conditions – and bring a long-awaited diagnosis to more people.

Living with an undiagnosed disease often poses major challenges – not only in care but also in community support. Thanks to technological advances such as whole genome sequencing, more individuals with suspected rare health conditions have been diagnosed in recent years. But despite this, only up to 40% of individuals receive a diagnosis. To change this, collaboration and innovation are needed.

International network and Swedish initiative for undiagnosed diseases

Ann Nordgren. Photo: Cecilia Österholm Corbascio.

The global Undiagnosed Diseases Network International (UDNI) brings together experts from around the world to share knowledge and data to solve more cases of undiagnosed diseases. The Undiagnosed Diseases Programme Karolinska (UDP Karolinska) has been part of UDNI since 2017. In 2023 UDN Sweden was established, where Swedish researchers, clinicians and the Wilhelm Foundation collaborate. The focus is to give children with rare syndromes access to whole genome sequencing regardless of where in Sweden they live.

“It’s about gathering information from families and experts from many areas to think new and reach further,” says Ann Nordgren, professor and senior consultant in clinical genetics at Karolinska University Hospital/Karolinska Institutet and Sahlgrenska Academy.

The world’s first Undiagnosed Hackathon for rare diseases

Helene Cederroth. Photo: private.

In the summer of 2023, a groundbreaking hackathon was held in Stockholm, the first Undiagnosed Hackathon (see box). Nearly 100 experts from around the world came together for 48 intense hours to help 13 children from 10 families get a diagnosis. Some of the children participated with their families, and the event was a unique meeting between researchers, clinicians and the families. During these days, four of the children were diagnosed. The results of the first Undiagnosed Hackathon were published in Nature Genetics in October 2024.

The idea was born during a dinner at the UDNI World Congress 2022, says Helene Cederroth, founder of the Wilhelm Foundation.

“We realised that a hackathon could bring together the power of global expertise and accelerate the development of new diagnostic tools. It was great to see what we could achieve together.”

Håkan Thonberg. Photo: private.

In addition to whole genome sequencing, methods such as long-read sequencing and RNA sequencing were used to analyse samples and visualise data in new ways.

“We became extremely solution-oriented and found new ways to work together. The global network and approach we created is something I take with me in my daily work,” says Håkan Thonberg, hospital geneticist at Karolinska University Hospital.

Innovation and collaboration across borders

The Undiagnosed Hackathon was not only a way to help the participating families, but also a platform for long-term collaboration and an acknowledgement of the interdisciplinary collaboration that has started within GMS UDN Sweden and the next steps to be taken, says Angelica Delgado-Vega, physician and researcher at Karolinska University Hospital/Karolinska Institutet.

Angelica Delgado-Vega. Photo: Cecilia Österholm Corbascio.

“It was a great experience to organise and participate in the hackathon. Despite the hard work, we were not discouraged and are organising a national GMS UDN Sweden Hackathon here in Sweden on 5-6 February,” says Angelica.

International cooperation is also important to support countries with fewer resources.

“In low- and middle-income countries, there is often a lot of expertise, but a lack of infrastructure hinders development. The Undiagnosed Hackathon was important to accelerate further work in these countries,” Angelica continues.

Focus on the individual

An important aspect of the work of UDN Sweden is to see the person behind the disease.

“For us, it’s important to talk about individuals living with undiagnosed diseases, not just “patients”. It’s about seeing the whole person,” says Helene.

Thanks to efforts such as the Undiagnosed Hackathon and the international collaboration within UDNI and national collaboration within UDN Sweden and GMS, we are taking steps towards the goal of giving more people a diagnosis – and thus the opportunity for better care, support and understanding.

Publication

”Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon”. Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD, Wirta W, Lindstrand A, Buske OJ, Cederroth M, Nordgren A. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1.

Links

Undiagnosed Disease Network International (UDNI)

Wilhelm Foundation

Nyhet från Karolinska Universitetssjukhuset: Internationell expertgrupp knäckte koden till olösta diagnoser

Image: Group photo Undiagnosed Hackathon 2023. Photo: Jacob Grange/Wilhelm Foundation.