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

Alexander B. Pine, Nora Chokr, Maximilian Stahl, David P. Steensma, Mikkael A. Sekeres, Mark R. Litzow, Selina M. Luger, Richard M. Stone, Peter L. Greenberg, Rafael Bejar, Jan P. Bewersdorf, Steven D. Gore, Amer M. Zeidan

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)1455-1464
Number of pages10
JournalLeukemia and Lymphoma
Volume61
Issue number6
DOIs
StatePublished - May 11 2020

Keywords

  • Myelodysplastic syndrome
  • mutations
  • next-generation sequencing
  • prognosis

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

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  • Cite this

    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. (2020). 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. Leukemia and Lymphoma, 61(6), 1455-1464. https://doi.org/10.1080/10428194.2020.1723013