Wide variation in use and interpretation of gene mutation profiling panels among health care providers of patients with myelodysplastic syndromes: Results of a large web-based survey Journal Article


Authors: Pine, A. B.; Chokr, N.; Stahl, M.; Steensma, D. P.; Sekeres, M. A.; Litzow, M. R.; Luger, S. M.; Stone, R. M.; Greenberg, P. L.; Bejar, R.; Bewersdorf, J. P.; Gore, S. D.; Zeidan, A. M.
Article Title: Wide variation in use and interpretation of gene mutation profiling panels among health care providers of patients with myelodysplastic syndromes: Results of a large web-based survey
Abstract: Next-generation sequencing (NGS) is increasingly employed for diagnosis, risk stratification, and management of patients with myelodysplastic syndrome (MDS). We aimed to describe beliefs and practice patterns among providers who treat MDS patients with respect to the utility of NGS in diagnosis, risk stratification, prognosis, and treatment decisions at various points along the disease trajectory, response assessment, and development of institutional guidelines for MDS-specific molecular profiling. Using a 23-question web-based survey in May–June 2018, we identified a widespread use of molecular profiling with MDS-specific panels (N = 53; 39%) and general panels including MDS-related genes (N = 63; 47%), with the majority done at diagnosis (92%). We found substantial variations in genes tested in assays, providers beliefs, practices, testing logistics, and interpretation of results, and recognized multiple challenges limiting a wider utilization of molecular profiling. High-quality data are needed to develop evidence-based guidelines for the role of NGS in the care of MDS patients. © 2020, © 2020 Informa UK Limited, trading as Taylor & Francis Group.
Keywords: myelodysplastic syndrome; mutations; next-generation sequencing; prognosis
Journal Title: Leukemia and Lymphoma
Volume: 61
Issue: 6
ISSN: 1042-8194
Publisher: Taylor & Francis Group  
Date Published: 2020-01-01
Start Page: 1455
End Page: 1464
Language: English
DOI: 10.1080/10428194.2020.1723013
PUBMED: 32026740
PROVIDER: scopus
DOI/URL:
Notes: Article -- Export Date: 1 July 2020 -- Source: Scopus
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  1. Maximilian Stahl
    42 Stahl