دورية أكاديمية
A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias
| العنوان: | A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias |
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| المؤلفون: | Berglund, Eva, Barbany, Gisela, Orsmark-Pietras, Christina, Fogelstrand, Linda, Abrahamsson, Jonas, Golovleva, Irina, Hallböök, Helene, Höglund, Martin, Lazarevic, Vladimir, Levin, Lars-Åke, Nordlund, Jessica, Norén-Nyström, Ulrika, Palle, Josefine, Thangavelu, Tharshini, Palmqvist, Lars, Wirta, Valtteri, Cavelier, Lucia, Fioretos, Thoas, Rosenquist, Richard |
| بيانات النشر: | Linköpings universitet, Avdelningen för samhälle och hälsa Linköpings universitet, Medicinska fakulteten Uppsala Univ, Sweden Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden Div Lab Med, Sweden; Lund Univ, Sweden Sahlgrens Univ Hosp, Sweden; Univ Gothenburg, Sweden Queen Silv Childrens Hosp, Sweden Univ Umeå, Sweden Skåne Univ Hosp, Sweden Umeå Univ, Sweden Karolinska Inst, Sweden Lausanne, Switzerland |
| سنة النشر: | 2022 |
| المجموعة: | Linköping University Electronic Press (LiU E-Press) |
| مصطلحات موضوعية: | acute lymphoblastic leukemia, acute myeloid leukemia, whole-genome sequencing, whole-transcriptome sequencing, technical feasibility, clinical utility, health-economic evaluation, Health Care Service and Management, Health Policy and Services and Health Economy, Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi |
| الوصف: | 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. ; 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 ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | Frontiers in Medicine, 2022, 9; http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-185421Test; PMID 35402448; ISI:000789699000001; Scopus 2-s2.0-85130851065 |
| DOI: | 10.3389/fmed.2022.842507 |
| الإتاحة: | https://doi.org/10.3389/fmed.2022.842507Test http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-185421Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.CB8D85A6 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3389/fmed.2022.842507 |
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