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Building a precision medicine infrastructure at a national level: The Swedish experience
Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, Lund, Sweden; Division of Pathology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics, Karolinska University Hospital, Solna, Sweden; Genomic Medicine Center Karolinska, Karolinska University Hospital, Stockholm, Sweden.
Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
Department of Laboratory Medicine, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
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2023 (engelsk)Inngår i: Cambridge prisms. Precision medicine, ISSN 2752-6143, Vol. 1Artikkel, forskningsoversikt (Fagfellevurdert) Published
Abstract [en]

Precision medicine has the potential to transform healthcare by moving from one-size-fits-all to personalised treatment and care. This transition has been greatly facilitated through new high-throughput sequencing technologies that can provide the unique molecular profile of each individual patient, along with the rapid development of targeted therapies directed to the Achilles heels of each disease. To implement precision medicine approaches in healthcare, many countries have adopted national strategies and initiated genomic/precision medicine initiatives to provide equal access to all citizens. In other countries, such as Sweden, this has proven more difficult due to regionally organised healthcare. Using a bottom-up approach, key stakeholders from academia, healthcare, industry and patient organisations joined forces and formed Genomic Medicine Sweden (GMS), a national infrastructure for the implementation of precision medicine across the country. To achieve this, Genomic Medicine Centres have been established to provide regionally distributed genomic services, and a national informatics infrastructure has been built to allow secure data handling and sharing. GMS has a broad scope focusing on rare diseases, cancer, pharmacogenomics, infectious diseases and complex diseases, while also providing expertise in informatics, ethical and legal issues, health economy, industry collaboration and education. In this review, we summarise our experience in building a national infrastructure for precision medicine. We also provide key examples how precision medicine already has been successfully implemented within our focus areas. Finally, we bring up challenges and opportunities associated with precision medicine implementation, the importance of international collaboration, as well as the future perspective in the field of precision medicine.

sted, utgiver, år, opplag, sider
2023. Vol. 1
Emneord [en]
genomic medicine; implementation; national infrastructure; precision medicine
HSV kategori
Identifikatorer
URN: urn:nbn:se:liu:diva-202605DOI: 10.1017/pcm.2023.3PubMedID: 38550923OAI: oai:DiVA.org:liu-202605DiVA, id: diva2:1852275
Merknad

Funding agencies: GMS is supported by the strategic innovation program Swelife and Vinnova, the Swedish Innovation Agency; the Ministry of Health and Social Affairs; SciLifeLab; the Swedish Childhood Cancer Fund; funding from the participating healthcare regions Region Skåne, Region Västra Götaland, Region Östergötland, Region Stockholm, Region Uppsala, Region Västerbotten and Region Örebro län and the medical faculties at Gothenburg University, Linköping University, Lund University, Karolinska Institutet, Umeå University, Uppsala University and Örebro University. SciLifeLab provides funding to the Clinical Genomics platform and to several projects performed in collaboration with GMS as a partner. Illumina has provided reagents for sequencing a subset of the patients in the acute leukaemia combined WGS and WTS study.

Tilgjengelig fra: 2024-04-17 Laget: 2024-04-17 Sist oppdatert: 2024-04-17

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