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.

journal_name

Leuk Lymphoma

journal_title

Leukemia & lymphoma

authors

Pine AB,Chokr N,Stahl M,Steensma DP,Sekeres MA,Litzow MR,Luger SM,Stone RM,Greenberg PL,Bejar R,Bewersdorf JP,Gore SD,Zeidan AM

doi

10.1080/10428194.2020.1723013

subject

Has Abstract

pub_date

2020-06-01 00:00:00

pages

1455-1464

issue

6

eissn

1042-8194

issn

1029-2403

journal_volume

61

pub_type

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