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  • Berglund, Eva CarolineUppsala universitet,Uppsala University,Department of Immunology, Genetics and Pathology, Clinical Genomics Uppsala, Science for Life Laboratory, Uppsala University, Uppsala, Sweden,Uppsala Univ, Sweden,Molekylär evolution,Science for Life Laboratory, SciLifeLab (författare)

A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias

  • Artikel/kapitelEngelska2022

Förlag, utgivningsår, omfång ...

  • 2022-03-24
  • Lausanne, Switzerland :Frontiers Media SA,2022

Nummerbeteckningar

  • LIBRIS-ID:oai:lup.lub.lu.se:68d86b85-4910-4a80-8363-e0eadd2bb330
  • https://lup.lub.lu.se/record/68d86b85-4910-4a80-8363-e0eadd2bb330URI
  • https://doi.org/10.3389/fmed.2022.842507DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-196179URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-185421URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:149588943URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-475123URI
  • https://gup.ub.gu.se/publication/315212URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:art swepub-publicationtype
  • Ämneskategori:ref swepub-contenttype

Anmärkningar

  • On behalf of the Clinical Genomics Platform at SciLifeLab and Genomic Medicine Sweden.Funding: This work was supported by Vinnova, the Swedish Innovation Agency, the Swedish Childhood Cancer Fund, the Swedish Cancer Society, the Swedish Research Council, regional ALF funding from Region Skåne, Region Västra Götaland, Karolinska Institutet, and Karolinska University Hospital. The sequencing of the retrospective cohort was funded by the SciLifeLab National Projects (NP00043).
  • Background: Whole-genome sequencing (WGS) and whole-transcriptome sequencing (WTS), with the ability to provide comprehensive genomic information, have become the focal point of research interest as novel techniques that can support precision diagnostics in routine clinical care of patients with various cancer types, including hematological malignancies. This national multi-center study, led by Genomic Medicine Sweden, aims to evaluate whether combined application of WGS and WTS (WGTS) is technically feasible and can be implemented as an efficient diagnostic tool in patients with acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). In addition to clinical impact assessment, a health-economic evaluation of such strategy will be performed. Methods and Analysis: The study comprises four phases (i.e., retrospective, prospective, real-time validation, and follow-up) including approximately 700 adult and pediatric Swedish AML and ALL patients. Results of WGS for tumor (90×) and normal/germline (30×) samples as well as WTS for tumors only will be compared to current standard of care diagnostics. Primary study endpoints are diagnostic efficiency and improved diagnostic yield. Secondary endpoints are technical and clinical feasibility for routine implementation, clinical utility, and health-economic impact. Discussion: Data from this national multi-center study will be used to evaluate clinical performance of the integrated WGTS diagnostic workflow compared with standard of care. The study will also elucidate clinical and health-economic impacts of a combined WGTS strategy when implemented in routine clinical care. Clinical Trial Registration: [https://doi.org/10.1186/ISRCTN66987142], identifier [ISRCTN66987142].

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Barbany, GiselaKarolinska Institutet,Karolinska Institute,Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics, Karolinska University Hospital, Solna, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Clin Genet, Solna, Sweden. (författare)
  • Orsmark-Pietras, ChristinaLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Translationella genomiska och funktionella studier av leukemi,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Translational Genomic and Functional Studies of Leukemia,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Department of Clinical Genetics and Pathology, Office for Medical Services, Division of Laboratory Medicine, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden; Clinical Genomics Lund, Science for Life Laboratory, Lund University, Lund, Sweden,Div Lab Med, Off Med Serv, Dept Clin Genet & Pathol, Lund, Sweden.;Lund Univ, Dept Lab Med, Div Clin Genet, Lund, Sweden.;Lund Univ, Sci Life Lab, Clin Genom Lund, Lund, Sweden.(Swepub:lu)med-cio (författare)
  • Fogelstrand, Linda,1974Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine(Swepub:gu)xsvlin (författare)
  • Abrahamsson, Jonas,1954Queen Silvia Children’s Hospital,Clinical Sciences, Queen Silvias Childrens Hospital, Gothenburg, Sweden,Queen Silv Childrens Hosp, Clin Sci, Gothenburg, Sweden.(Swepub:gu)xabrjo (författare)
  • Golovleva, IrinaUmeå universitet,Umeå University,Medicinsk och klinisk genetik,Univ Umeå, Dept Med Biosci, Umeå, Sweden.(Swepub:umu)irgo0001 (författare)
  • Hallböök, HeleneUppsala universitet,Uppsala University,Department of Medical Sciences, Uppsala University, Uppsala, Sweden,Uppsala Univ, Sweden,Hematologi(Swepub:uu)helehall (författare)
  • Lazarevic, VladimirDepartment of Hematology, Oncology and Radiation Physics, Skåne University Hospital, Lund, Sweden,Skane Univ Hosp, Dept Hematol Oncol & Radiat Phys, Lund, Sweden.(Swepub:lu)med-lzv (författare)
  • Levin, Lars-Åke,Professor,1960-Linköpings universitet,Linköping University,Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden,Avdelningen för samhälle och hälsa,Medicinska fakulteten,Linköping Univ, Dept Hlth Med & Caring Sci, Linköping, Sweden.(Swepub:liu)larle77 (författare)
  • Nordlund, JessicaUppsala universitet,Uppsala University,Department of Medical Sciences and Science for Life Laboratory, Uppsala University, Uppsala, Sweden,Uppsala Univ, Sweden,Science for Life Laboratory, SciLifeLab(Swepub:uu)jesno775 (författare)
  • Norén-Nyström, UlrikaUmeå universitet,Umeå University,Pediatrik,Umeå Univ, Dept Clin Sci Pediat, Umeå, Sweden.(Swepub:umu)kagr0007 (författare)
  • Palle, Josefine,1964-Uppsala universitet,Uppsala University,Women’s and Children’s Health, Uppsala University, Uppsala, Sweden,Uppsala Univ, Sweden,Institutionen för kvinnors och barns hälsa,Science for Life Laboratory, SciLifeLab(Swepub:uu)jopal516 (författare)
  • Thangavelu, TharshiniLinköpings universitet,Linköping University,Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden,Avdelningen för samhälle och hälsa,Medicinska fakulteten,Linköping Univ, Dept Hlth Med & Caring Sci, Linköping, Sweden.(Swepub:liu)thath65 (författare)
  • Palmqvist, Lars,1965Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine(Swepub:gu)xpalla (författare)
  • Wirta, ValtteriKarolinska Institutet,Karolinska Institute,Department of Microbiology, Tumor and Cell Biology, Clinical Genomics Stockholm, Science for Life Laboratory, Karolinska Institutet, Solna, Sweden,Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Sci Life Lab, Clin Genom Stockholm, Solna, Sweden. (författare)
  • Cavelier, LuciaUppsala universitet,Uppsala University,Department of Immunology, Genetics and Pathology, Clinical Genomics Uppsala, Science for Life Laboratory, Uppsala University, Uppsala, Sweden,Uppsala Univ, Sweden,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik(Swepub:uu)lucicava (författare)
  • Fioretos, ThoasLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Translationella genomiska och funktionella studier av leukemi,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Translational Genomic and Functional Studies of Leukemia,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Department of Clinical Genetics and Pathology, Office for Medical Services, Division of Laboratory Medicine, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden; Clinical Genomics Lund, Science for Life Laboratory, Lund University, Lund, Sweden,Div Lab Med, Off Med Serv, Dept Clin Genet & Pathol, Lund, Sweden.;Lund Univ, Dept Lab Med, Div Clin Genet, Lund, Sweden.;Lund Univ, Sci Life Lab, Clin Genom Lund, Lund, Sweden.(Swepub:lu)kgen-tfi (författare)
  • Rosenquist, RichardKarolinska Institutet,Karolinska Institute,Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics, Karolinska University Hospital, Solna, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Clin Genet, Solna, Sweden. (författare)
  • Höglund, MartinUppsala universitet,Hematologi(Swepub:uu)martinhl (författare)
  • Uppsala UniversityDepartment of Immunology, Genetics and Pathology, Clinical Genomics Uppsala, Science for Life Laboratory, Uppsala University, Uppsala, Sweden (creator_code:org_t)
  • the Clinical Genomics Platform at SciLifeLab
  • Genomic Medicine Sweden

Sammanhörande titlar

  • Ingår i:Frontiers in MedicineLausanne, Switzerland : Frontiers Media SA9, s. 1-92296-858X

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