A framework for the clinical implementation of optical genome mapping in hematologic malignancies
Levy, Brynn (Department of Pathology and Cell Biology. Columbia University Irving Medical Center)
Kanagal-Shamanna, Rashmi (Department of Hematopathology. The University of Texas MD Anderson Cancer Center)
Sahajpal, Rashmi Kanagal (Greenwood Genetic Center (California, Estats Units d'Amèrica))
Neveling, Nikhil S. (Radboud University Medical Center (Nijmegen, Holanda))
Rack, Katrina (UZ Leuven)
Dewaele, Barbara (UZ Leuven)
Olde Weghuis, Daniel (Department of Human Genetics. Radboud University Medical Center)
Stevens-Kroef, Marian (Department of Human Genetics. Radboud University Medical Center)
Puiggros, Anna (Hospital del Mar (Barcelona, Catalunya))
Mallo, Maria del Mar (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Clifford, Benjamin (Bionano (California, Estats Units d'Amèrica))
Mantere, Tuomo (University of Oulu)
Hoischen, Alexander (Radboud University Medical Center (Nijmegen, Holanda))
Espinet, Blanca (Hospital del Mar (Barcelona, Catalunya))
Kolhe, Ravindra (Department of Pathology. Augusta University (Georgia, Estats Units d'Amèrica))
Sole, F. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Raca, Gordana (Department of Pathology and Laboratory Medicine. Children's Hospital Los Angeles)
Smith, Adam C. (University of Toronto)
Universitat Autònoma de Barcelona

Data:	2024
Resum:	Optical Genome Mapping (OGM) is rapidly emerging as an exciting cytogenomic technology both for research and clinical purposes. In the last 2 years alone, multiple studies have demonstrated that OGM not only matches the diagnostic scope of conventional standard of care cytogenomic clinical testing but it also adds significant new information in certain cases. Since OGM consolidates the diagnostic benefits of multiple costly and laborious tests (e. g. , karyotyping, fluorescence in situ hybridization, and chromosomal microarrays) in a single cost-effective assay, many clinical laboratories have started to consider utilizing OGM. In 2021, an international working group of early adopters of OGM who are experienced with routine clinical cytogenomic testing in patients with hematological neoplasms formed a consortium (International Consortium for OGM in Hematologic Malignancies, henceforth "the Consortium") to create a consensus framework for implementation of OGM in a clinical setting. The focus of the Consortium is to provide guidance for laboratories implementing OGM in three specific areas: validation, quality control and analysis and interpretation of variants. Since OGM is a complex technology with many variables, we felt that by consolidating our collective experience, we could provide a practical and useful tool for uniform implementation of OGM in hematologic malignancies with the ultimate goal of achieving globally accepted standards.
Ajuts:	Generalitat de Catalunya 2017SGR288 Generalitat de Catalunya 2021SGR00560
Nota:	Collectively all authors sincerely thank all the technicians, technologists, and research personnel who have played a pivotal role in the development of OGM in each of centers represented by the Consortium. This work was supported in part by a grant from the 2017 SGR288 (GRC) and 2021 SGR00560 (GRC) Generalitat de Catalunya (to FS) and economical support from CERCA Programme/Generalitat de Catalunya and Fundació Internacional Josep Carreras (to FS). The authors KN, DOW, MS-K, and AH thank the Genome Technology Center at Radboudumc and the management team of the Department of Human Genetics at Radboudumc for infrastructural and financial support. ACS thanks the support of the Management Team of the Laboratory Medicine Program and specifically the support of the Laboratory Medicine Program Small Grants Program and UHN Pathology Associates Academic Enrichment Fund.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article de revisió ; recerca ; Versió publicada
Matèria:	Chromosome Mapping ; Hematologic Neoplasms ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping
Publicat a:	American journal of hematology, Vol. 99 Núm. 4 (april 2024) , p. 642-661, ISSN 1096-8652

DOI: 10.1002/ajh.27175

20 p, 5.0 MB

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Documents de recerca > Documents dels grups de recerca de la UAB > Centres i grups de recerca (producció científica) > Ciències de la salut i biociències > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP) > Institut de Recerca contra la Leucèmia Josep Carreras
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