Reducing cytogenetic testing in the era of next generation sequencing: Are we choosing wisely?
Eri Kawata
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Department of Hematology, Panasonic Health Insurance Organization Matsushita Memorial Hospital, Moriguchi, Japan
Division of Hematology and Oncology, Department of Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan
Search for more papers by this authorBenjamin D. Hedley
Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorBenjamin Chin-Yee
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
Search for more papers by this authorAnargyros Xenocostas
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
Search for more papers by this authorAlejandro Lazo-Langner
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
Search for more papers by this authorCyrus C. Hsia
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Search for more papers by this authorKang Howson-Jan
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
Search for more papers by this authorPing Yang
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Cytogenetics Laboratory, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorMichael A. Levy
Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorStephanie Santos
Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorPratibha Bhai
Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorChristopher Howlett
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorHanxin Lin
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorMike Kadour
Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, Ontario, Canada
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorBekim Sadikovic
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorCorresponding Author
Ian Chin-Yee
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Correspondence
Ian Chin-Yee, London Health Sciences Centre, Victoria Hospital, 800 Commissioners Road East Room E6-211, London ON N6A 5W9 Canada.
Email: [email protected]
Search for more papers by this authorEri Kawata
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Department of Hematology, Panasonic Health Insurance Organization Matsushita Memorial Hospital, Moriguchi, Japan
Division of Hematology and Oncology, Department of Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan
Search for more papers by this authorBenjamin D. Hedley
Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorBenjamin Chin-Yee
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
Search for more papers by this authorAnargyros Xenocostas
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
Search for more papers by this authorAlejandro Lazo-Langner
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
Search for more papers by this authorCyrus C. Hsia
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Search for more papers by this authorKang Howson-Jan
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
Search for more papers by this authorPing Yang
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Cytogenetics Laboratory, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorMichael A. Levy
Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorStephanie Santos
Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorPratibha Bhai
Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorChristopher Howlett
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorHanxin Lin
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorMike Kadour
Department of Pathology and Laboratory Medicine, London Health Sciences Centre, London, Ontario, Canada
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorBekim Sadikovic
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Molecular Diagnostic Division, London Health Sciences Centre, London, Ontario, Canada
Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada
Search for more papers by this authorCorresponding Author
Ian Chin-Yee
Division of Hematology, Department of Medicine, London Health Sciences Centre, London, Ontario, Canada
Division of Hematology, Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada
Correspondence
Ian Chin-Yee, London Health Sciences Centre, Victoria Hospital, 800 Commissioners Road East Room E6-211, London ON N6A 5W9 Canada.
Email: [email protected]
Search for more papers by this authorAbstract
Introduction
In most laboratories, next generation sequencing (NGS) has been added without consideration for redundancy compared to conventional cytogenetics (CG). We tested a streamlined approach to genomic testing in patients with suspected myeloid and plasma cell neoplasms using next generation sequencing (“NGS first”) as the primary testing modality and limiting cytogenetics (CG) to samples with morphologic abnormalities in the marrow aspirate.
Methods
Based on morphologic interpretation of bone marrow aspirate and flow cytometry, samples were triaged into four groups: (a) Samples with dysplasia or excess blasts had both NGS and karyotyping; (b) Samples without excess blasts or dysplasia had NGS only; (c) Repeat samples with previous NGS and/or CG studies were not retested; (d) Samples for suspected myeloma with less than 5% plasma cell had CG testing cancelled.
Results
Seven hundred eleven adult bone marrow (BM) samples met the study criteria. The NGS first algorithm eliminated CG testing in 229/303 (75.6%) of patients, primarily by reducing repeat testing. Potential cost avoided was approximately $124 000 per annum. Hematologists overruled the triage comment in only 11/303 (3.6%) cases requesting CG testing for a specific indication.
Conclusions
Utilizing NGS as the primary genomic testing modality NGS was feasible and well accepted, reducing over three quarters of all CG requests and improving the financial case for adoption of NGS. Key factors for the success of this study were collaboration of clinical and genomic diagnostic teams in developing the algorithm, rapid turnaround time for BM interpretation for triage, and communication between laboratories.
CONFLICT OF INTERESTS
The authors have no competing interests.
Open Research
DATA AVAILABILITY STATEMENT
Data available on request from the authors.
Supporting Information
| Filename | Description |
|---|---|
| ijlh13747-sup-0001-FigS1.jpgJPEG image, 945.2 KB | Figure S1 |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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