| Title: |
Genomic testing in myeloid malignancy |
| Authors: |
Docking, T. Roderick; Karsan, Aly |
| Source: |
International Journal of Laboratory Hematology ; volume 41, issue S1, page 117-125 ; ISSN 1751-5521 1751-553X |
| Publisher Information: |
Wiley |
| Publication Year: |
2019 |
| Collection: |
Wiley Online Library (Open Access Articles via Crossref) |
| Description: |
Clinical genetic testing in the myeloid malignancies is undergoing a rapid transition from the era of cytogenetics and single‐gene testing to an era dominated by next‐generation sequencing ( NGS ). This transition promises to better reveal the genetic alterations underlying disease, but there are distinct risks and benefits associated with different NGS testing platforms. NGS offers the potential benefit of being able to survey alterations across a wider set of genes, but analytic and clinical challenges associated with incidental findings, germ line variation, turnaround time, and limits of detection must be addressed. Additionally, transcriptome‐based testing may offer several distinct benefits beyond traditional DNA ‐based methods. In addition to testing at disease diagnosis, research indicates potential benefits of genetic testing both prior to disease onset and at remission. In this review, we discuss the transition from the era of cytogenetics and single‐gene tests to the era of NGS panels and genome‐wide sequencing—highlighting both the potential and drawbacks of these novel technologies. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1111/ijlh.13022 |
| Availability: |
http://dx.doi.org/10.1111/ijlh.13022; https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijlh.13022; https://onlinelibrary.wiley.com/doi/full-xml/10.1111/ijlh.13022 |
| Rights: |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
| Accession Number: |
edsbas.E1A3E424 |
| Database: |
BASE |