Evidence map›Paper›PMID 42410492›Full record

ReviewJournal of internal medicine2026

Genomic Medicine Sweden: Advancing precision medicine at the national level.

Anders Edsjö, Anna Lindstrand, Panagiotis Baliakas, David Gisselsson, Paula Mölling, Mia Wadelius, Åsa Johansson, Hannes Olauson, Hans Ehrencrona, Lovisa Lovmar and 49 more

Abstract readReview
In one paragraph

Review in Journal of internal medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

59 authors.

Anders EdsjöDepartment of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden.ORCID https://orcid.org/0000-0001-8783-8284
Anna LindstrandDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0003-0806-5602
Panagiotis BaliakasDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID https://orcid.org/0000-0002-5634-7156
David GisselssonDepartment of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden.ORCID https://orcid.org/0000-0002-0301-426X
Paula MöllingDepartment of Laboratory Medicine, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.ORCID https://orcid.org/0009-0000-1143-9105
Mia WadeliusDepartment of Medical Sciences, Clinical Pharmacogenomics, Uppsala University, Uppsala, Sweden.ORCID https://orcid.org/0000-0002-6368-2622
Åsa JohanssonDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID https://orcid.org/0000-0002-2915-4498
Hannes OlausonDepartment of Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden.
Hans EhrencronaDepartment of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden.ORCID https://orcid.org/0000-0002-5589-3622
Lovisa LovmarDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden.ORCID https://orcid.org/0009-0005-5151-0523
Christian G GiskeDepartment of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
Henrik GreenDepartment of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.ORCID https://orcid.org/0000-0002-8015-5728
Ann NordgrenDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0003-3285-4281
Fulya TaylanDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0002-2907-0235
Martin HallbeckDepartment of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.ORCID https://orcid.org/0000-0001-6716-0314
Erika Tång HallbäckDepartment of Infectious Diseases, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.ORCID https://orcid.org/0000-0002-0787-8786
Anna GreenDepartment of Laboratory Medicine, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.ORCID https://orcid.org/0000-0003-4804-9703
Markus HeidenbladClinical Genomics Lund, Science for Life Laboratory, Lund University, Lund, Sweden.ORCID https://orcid.org/0000-0002-0668-2263
Kina HöglundDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden.
Anders JemtGenomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden.ORCID https://orcid.org/0000-0002-2219-0197
Carl Mårten LindqvistClinical Genomics Örebro, Science for Life Laboratory, Örebro University, Örebro, Sweden.ORCID https://orcid.org/0000-0003-3887-9519
Maria Johansson SollerDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Magnus SabelChildhood Cancer Centre, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden.ORCID https://orcid.org/0000-0002-3072-657X
Colum WalshDepartment of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.ORCID https://orcid.org/0000-0001-9921-7506
Hartmut VogtDepartment of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.ORCID https://orcid.org/0000-0001-6009-7789
Craig E WheelockUnit of Integrative Metabolomics, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0002-8113-0653
Martin BergöDepartment of Medicine, Huddinge, Karolinska Institutet, Huddinge, Sweden.ORCID https://orcid.org/0000-0002-6915-7140
Jens EnokssonDepartment of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden.
Ann Ekberg JanssonRegional Executive Office, Region Västra Götaland, Gothenburg, Sweden.
Cecilia FagerströmDepartment of Research, Region Kalmar County, Kalmar, Sweden.ORCID https://orcid.org/0000-0002-4257-282X
Jan HolgerssonDepartment of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.ORCID https://orcid.org/0000-0003-2202-6511
Stephanie Anja JuranRare Diseases Sweden, Stockholm, Sweden.
Mats G KarlssonRegional Executive Office, Region Örebro County, Örebro, Sweden.ORCID https://orcid.org/0000-0001-6881-237X
Frida LundmarkLif, the research based pharma companies, Stockholm, Sweden.
Eva Tiensuu JansonDepartment of Medical Sciences, Endocrine Oncology Unit, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID https://orcid.org/0000-0002-1649-4880
Andreas Muranyi ScheutzRegional Executive Office, Region Stockholm, Stockholm, Sweden.
Malin SundDepartment of Diagnostics and Intervention/Surgery, Umeå University, Umeå, Sweden.ORCID https://orcid.org/0000-0002-7516-9543
Päivi ÖstlingDepartment of Oncology-Pathology, Data Center SciLifeLab, Karolinska Institutet, Solna, Sweden.ORCID https://orcid.org/0000-0001-5501-466X
Sofia Gruvberger-SaalDepartment of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden.ORCID https://orcid.org/0000-0002-8478-9920
Marene LandströmDepartment of Medical Biosciences, Umeå University, Umeå, Sweden.ORCID https://orcid.org/0000-0001-6737-7230
Malin MelinDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID https://orcid.org/0000-0002-6589-2375
Lars PalmqvistDepartment of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.ORCID https://orcid.org/0000-0001-9274-360X
Richard PalmqvistDepartment of Medical Biosciences, Umeå University, Umeå, Sweden.ORCID https://orcid.org/0000-0002-9933-2843
Bianca StenmarkClinical Genomics Örebro, Science for Life Laboratory, Örebro University, Örebro, Sweden.ORCID https://orcid.org/0000-0003-4637-8626
Anna WedellDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0002-2612-6301
Malin KarnåRegion Västra Götaland, Gothenburg, Sweden.ORCID https://orcid.org/0009-0005-7554-5624
Katarina NyströmSahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Tobias StridDepartment of Precision Medicine Laboratory, Region Östergötland, Linköping, Sweden.ORCID https://orcid.org/0000-0002-2166-5170
Per SikoraDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Region Västra Götaland, Gothenburg, Sweden.
Maria JohanssonLund University Collaboration Office, Lund University, Lund, Sweden.
Therese FagerqvistResearch and Partnership Support, Uppsala University, Uppsala, Sweden.ORCID https://orcid.org/0009-0001-6198-204X
Mirja Carlsson MöllerDepartment of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden.
Oskar FrisellThe Swedish Institute for Health Economics, Lund, Sweden.ORCID https://orcid.org/0009-0004-3890-1848
Mats UlfendahlRegional Executive Office, Region Östergötland, Linköping, Sweden.ORCID https://orcid.org/0000-0002-5692-7169
Mikaela FriedmanDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0002-5483-9771
Lucia CavelierDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0009-0003-8195-370X
Valtteri WirtaClinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.ORCID https://orcid.org/0000-0003-3811-5439
Thoas FioretosDepartment of Clinical Genetics, Pathology and Molecular Diagnostics, Skåne University Hospital, Lund, Sweden.ORCID https://orcid.org/0000-0002-3235-6154
Richard RosenquistDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0002-0211-8788

Funding

Swedish Childhood Cancer FundSwedish Innovation Agency Vinnova
6 · The paper itself

Abstract

High-throughput sequencing has transformed clinical diagnostics of rare diseases (RD), cancer and infectious diseases by enabling the identification of disease-causing genetic alterations and facilitating individualised treatment and care. In response to these advances, Genomic Medicine Sweden (GMS) was established in 2017 as a national collaborative effort to accelerate implementation of genomics-based precision medicine within Sweden's regionally organized, publicly funded healthcare system. GMS brings together the seven university healthcare regions and their associated medical faculties, in collaboration with healthcare regions across Sweden, Science for Life Laboratory, patient organizations, industry and governmental agencies. Activities are coordinated through national disease-specific expert groups, supported by cross-cutting functions in bioinformatics, health economics, ethics, education and patient engagement. At the operational level, seven Genomic Medicine Centres, embedded at university hospitals, develop and deliver harmonised genomic diagnostics nationwide. The National Genomics Platform provides secure infrastructure for large-scale data storage, analysis, and national and international data sharing. Following initial project-based funding, GMS now receives long-term governmental support. This review describes the national implementation of genomic-based precision diagnostics, discusses challenges and lessons learnt, and highlights key milestones across disease areas, including whole-genome sequencing in RD and paediatric cancer, comprehensive genomic profiling of haematological malignancies and solid tumours, pathogen genomics in microbiology, pharmacogenomic testing and emerging applications of polygenic risk scores in complex diseases. Collectively, these efforts have contributed to more than 500,000 genomic tests being performed within Swedish healthcare between 2017 and 2025. Finally, we outline future diagnostic needs and priority areas to ensure sustainable, scalable and equitable access to precision medicine.

Indexed as

Genomic MedicineGenomicsPrecision MedicineHigh-Throughput Nucleotide SequencingHumansNeoplasmsSwedencancercomplex diseasesgenomic medicinehealth economicsmicrobiologypharmacogenomicsprecision medicinerare diseases

Identifiers

PMID42410492
PMCPMC13569294

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.