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.

Keywords:

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

Acknowledgements

The authors thank all survey responders for their time and reporting. We extend special thank-you to Marissa Six of the Clinical Education and Awareness Team of Eastern Cooperative Oncology Group-American College of Radiology Imaging Network (ECOG-ACRIN) for her help in the distribution of the survey and collection of data.

Disclosure statement

A.M.Z. received research funding from Celgene, Acceleron, Abbvie, Otsuka, Pfizer, Medimmune/AstraZeneca, Boehringer-Ingelheim, Trovagene, Incyte, Takeda, Novartis, Aprea, Astex, and ADC Therapeutics. A.M.Z had a consultancy with and received honoraria from AbbVie, Otsuka, Pfizer, Celgene, Jazz, Incyte, Agios, Boehringer-Ingelheim, Novartis, Acceleron, Astellas, Daiichi Sankyo, Cardinal Health, Seattle Genetics, BeyondSpring, Trovagene, Takeda, Ionis, and Epizyme. A.M.Z received travel support for meetings from Pfizer, Novartis, and Trovagene. None of these relationships were related to the development of this manuscript. Other authors have no relevant disclosures.

Additional information

Funding

A.M.Z. is a Leukemia and Lymphoma Society Scholar in Clinical Research and is also supported by a NCI’s Cancer Clinical Investigator Team Leadership Award (CCITLA). Research reported in this publication was in part supported by the National Cancer Institute of the National Institutes of Health under Award Number [P30 CA016359]. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.