Guiding the global evolution of cytogenetic testing for hematologic malignancies

Cytogenetics has long represented a critical component in the clinical evaluation of hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot of genome-wide copy number and structural variation, which have been shown to drive tumorigenesis, define diseases, and guide treatment. Technological innovations in sequencing have ushered in our present-day clinical genomics era. With recent publications highlighting novel sequencing technologies as alternatives to conventional cytogenetic approaches, we, an international consortium of laboratory geneticists, pathologists, and oncologists, describe herein the advantages and limitations of both conventional chromosome banding and novel sequencing technologies and share our considerations on crucial next steps to implement these novel technologies in the global clinical setting for a more accurate cytogenetic evaluation, which may provide improved diagnosis and treatment management. Considering the clinical, logistic, technical, and financial implications, we provide points to consider for the global evolution of cytogenetic testing.Fil: Akkari, Yassmine M.N.. Legacy Health; Estados UnidosFil: Baughn, Linda B.. Mayo Clinic Cancer Center; Estados UnidosFil: Dubuc, Adrian M.. Harvard Medical School; Estados UnidosFil: Smith, Adam C.. University of Toronto; CanadáFil: Mallo, Mar. Institut D`investigació Biomedica de Girona Dr. Josep Trueta (idib`gi);Fil: Dal Cin, Paola. Harvard Medical School; Estados UnidosFil: Diez Campelo, Maria. Universidad de Salamanca; EspañaFil: Gallego, Marta S.. Hospital Italiano; ArgentinaFil: Granada Font, Isabel. Institut D`investigació Biomedica de Girona Dr. Josep Trueta (idib`gi);Fil: Haase, Detlef T.. Universität Göttingen; AlemaniaFil: Schlegelberger, Brigitte. Leibniz Universitat Hannover; AlemaniaFil: Slavutsky, Irma Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Mecucci, Cristina. Università di Perugia; ItaliaFil: Levine, Ross L.. Memorial Sloan-kettering Cancer Center; Estados UnidosFil: Hasserjian, Robert P.. Massachusetts General Hospital ; Department Of Medicine ; Harvard Medical School;Fil: Solé, Francesc. Institut D`investigació Biomedica de Girona Dr. Josep Trueta (idib`gi);Fil: Levy, Brynn. Columbia University; Estados UnidosFil: Xu, Xinjie. Mayo Clinic Cancer Center; Estados Unido