Genomic Medicine Sweden: Advancing precision medicine at the national level.
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Edsjö Anders, Lindstrand Anna, Baliakas Panagiotis, Gisselsson David, Mölling Paula, Wadelius Mia, Johansson Åsa, Olauson Hannes, Ehrencrona Hans, Lovmar Lovisa, Giske Christian G, Green Henrik, Nordgren Ann, Taylan Fulya, Hallbeck Martin, Hallbäck Erika Tång, Green Anna, Heidenblad Markus, Höglund Kina, Jemt Anders, Lindqvist Carl Mårten, Soller Maria Johansson, Sabel Magnus, Walsh Colum, Vogt Hartmut, Wheelock Craig E, Bergö Martin, Enoksson Jens, Jansson Ann Ekberg, Fagerström Cecilia, Holgersson Jan, Juran Stephanie Anja, Karlsson Mats G, Lundmark Frida, Janson Eva Tiensuu, Scheutz Andreas Muranyi, Sund Malin, Östling Päivi, Gruvberger-Saal Sofia, Landström Marene, Melin Malin, Palmqvist Lars, Palmqvist Richard, Stenmark Bianca, Wedell Anna, Karnå Malin, Nyström Katarina, Strid Tobias, Sikora Per, Johansson Maria, Fagerqvist Therese, Möller Mirja Carlsson, Frisell Oskar, Ulfendahl Mats, Friedman Mikaela, Cavelier Lucia, Wirta Valtteri, Fioretos Thoas, Rosenquist Richard
Аннотация
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.