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Articles by Anders Edsjö
Genomic Medicine Sweden: Advancing precision medicine at the national level
Introduction The widespread adoption of high-throughput sequencing (HTS) in the past decade has transformed biomedical research and clinical practice [1, 2]. These technologies have enabled large-scale identification of molecular alterations linked to disease, leading to the discovery of numerous genes responsible for rare diseases (RD), a deeper understanding of the genomic complexity of major cancer types and pathogen recognition at unprecedented scale [3-5].
Towards an ecosystem of clinical decision support tools for precision cancer medicine
Abstract Molecular tumor boards are supported by clinical decision support system (CDSS) tools for the interpretation of complex molecular data towards personalized treatments. Current CDSS tools are genomics-focused and characterized by tight couplings between data ingestion, guideline-based reasoning logic and curated knowledgebases.
Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare - Nature Medicine
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Data-driven research and precision ‘-omics’ technologies have immense transformative potential to provide tailored treatment and care, embodying the principles of precision medicine. Sweden is a global leader in adopting genomic tools in healthcare. Still, national research datasets from human cohorts are too fragmented or too small to meet the needs of modern precision ‘-omics’ research.
By Anders Kämpe, Åsa Johansson, Adam Ameur, Anders Edsjö, Hans Ehrencrona, Daniel Eriksson, Tove Fall, Paul W. Franks, Ulf Gyllensten, Janne Lehtiö, Yi Lu, Patrik Magnusson, Erik Melén, Ann Nordgren, Jessica Nordlund, Jochen Schwenk, Johan Sundström, Fulya Taylan, Bethany Van Guelpen, Mia Wadelius, Valtteri Wirta, Bo Jacobsson, Tobias Sjöblom, Richard Rosenquist, Anna Lindstrand, Lao H. Saal
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Nature
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The 1+Million Genomes Minimal Dataset for Cancer - Nature Genetics
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Defining minimal standards for data collection is key to creating interoperative, searchable genomic and clinical databases. We highlight here the 1+Million Genomes Minimal Dataset for Cancer, encompassing 140 items in 8 domains to foster the collection of cancer data, inform transnational cooperation and advance precision cancer medicine.
By Michela Riba, Cinzia Sala, Aedín C. Culhane, Åsmund Flobak, Attila Patócs, Kjetil Boye, Karla Plevova, Giorgia Gandolfi, Gabriele Bucci, Anders Edsjö, Ulrik Lassen, Fátima Al-Shahrour, Nuria Lopez-Bigas, Randi Hovland, Edwin Cuppen, Alfonso Valencia, Hélène A. Poirel, Richard Rosenquist, Serena Scollen, Jeroen A. M. Beliën, Arcangela De Nicolo, Ruggero De Maria, Marco J. Morelli, Juan Arenas Marquez, David Torrents
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Nature
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High‐throughput molecular assays for inclusion in personalised oncology trials – State‐of‐the‐art and beyond
Introduction Personalised medicine, also referred to as precision medicine, has become increasingly important in cancer care. The concept, defined by the European Commission as ‘using phenotypes and genotypes for tailoring the right therapeutic strategy for the right person at the right time’ [1], is intimately linked to the plethora of novel options for the treatment of cancer, many of them targeted to specific molecular alterations [2].
Precisionsmedicin kräver samverkan och långsiktighet
Vi har i Sverige varit tidiga med att använda den nya generationens sekvenseringsteknologi för bred genetisk diagnostik av patienter med sällsynta ärftliga sjukdomar, cancer och infektionssjukdomar. Resultaten från dessa analyser kan sedan användas för att individanpassa behandlingen, det vill säga precisionsmedicin.
Full article: UROSCAN and UROSCANSEQ: a large-scale multicenter effort towards translation of molecular bladder cancer subtypes into clinical practice - from biobank to RNA-sequencing in real time
Abstract Abstract Background Bladder cancer is molecularly one of the most heterogenous malignancies characterized by equally heterogenous clinical outcomes. Standard morphological assessment with pathology and added immunohistochemical analyses is unable to fully address the heterogeneity, but up to now treatment decisions have been made based on such information only. Bladder cancer molecular subtypes will likely provide means for a more personalized bladder cancer care.
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