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Can exome scans be expected to be part of real‐time decision‐making in patients with haematological cancers?
Author(s) -
Hokland Peter,
Cotter Finbarr E.,
Hansen Marcus C.
Publication year - 2016
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.14183
Subject(s) - exome sequencing , exome , molecular diagnostics , computational biology , dna sequencing , medicine , medical physics , bioinformatics , biology , pathology , mutation , genetics , dna , gene
Summary The laboratory aspects of diagnosis of patients with haematological malignancies are forever changing. Microscopic examination of blood and bone marrow smears, cytogenetics, flow cytometry and single‐assay molecular diagnostics have been and are still essential tools in cancer diagnostics. Flow cytometry has brought the unprecedented possibility of rapid multiplexing and characterization of complex immunophenotypic patterns. However, the advent of next generation sequencing in the haematology laboratory brings a whole new perspective on multiplexing and potentially lowers the cost per analysis effectively. These informative methods still require skilled technicians and bioinformaticians, evolve at a rapid pace, and call for clinical guidelines and best practice. Here, we discuss the potential and caveats of whole exome sequencing as it moves closer to routine laboratory practice. The question is: Will exome sequencing be performed, real‐time, in the standard haemodiagnostic laboratory?