TY - JOUR
T1 - A framework for the clinical implementation of optical genome mapping in hematologic malignancies
AU - Levy, Brynn
AU - Kanagal-Shamanna, Rashmi
AU - Sahajpal, Nikhil S.
AU - Neveling, Kornelia
AU - Rack, Katrina
AU - Dewaele, Barbara
AU - Olde Weghuis, Daniel
AU - Stevens-Kroef, Marian
AU - Puiggros, Anna
AU - Mallo, Mar
AU - Clifford, Benjamin
AU - Mantere, Tuomo
AU - Hoischen, Alexander
AU - Espinet, Blanca
AU - Kolhe, Ravindra
AU - Solé, Francesc
AU - Raca, Gordana
AU - Smith, Adam C.
N1 - Publisher Copyright:
© 2024 The Authors. American Journal of Hematology published by Wiley Periodicals LLC.
PY - 2024/4
Y1 - 2024/4
N2 - 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.
AB - 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.
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U2 - 10.1002/ajh.27175
DO - 10.1002/ajh.27175
M3 - Review article
C2 - 38164980
AN - SCOPUS:85181211887
SN - 0361-8609
VL - 99
SP - 642
EP - 661
JO - American journal of hematology
JF - American journal of hematology
IS - 4
ER -