Personalized Medicine Program on Myelodysplastic Syndromes: Characterization of the Patient's Genome for Clinical Decision Making and Systematic Collection of Real World Data to Improve Quality of Health Care

Detailed Summary

BACKGROUND Myelodysplastic syndromes (MDS) typically occur in elderly people and with time, a portion of the patients evolve into acute myeloid leukemia (AML). Therefore a risk-adapted treatment strategy is mandatory. Current prognostic scores present limitations, and in most cases fail to capture reliable prognostic information at individual level. STATE OF THE ART Important steps forward have been made in defining the molecular architecture of MDS and gene mutations have been reported to influence survival and risk of disease progression in MDS. Evaluation of the mutation status may add significant information to currently used prognostic scores and a comprehensive analyses of large, prospective patient populations is warranted to correctly estimate the independent effect of each mutation on clinical outcome and response to treatments. AIMS In this project, the investigators will develop a research platform by integrating genomic mutations, clinical variables and patient outcome derived from real-world data obtained from FISiM (Fondazione Italiana Sindromi Mielodisplastiche) clinical network, including 72 hematological centers. This will allow the investigators to: 1. define the clinical utility of mutational screening in the diagnostic work-up and classification of MDS 2. assess the implementation of diagnostic and therapeutic guidelines (appropriateness) in the real-life 3. evaluate the impact of specific interventions (treatments) on clinical outcomes, long-term complications and costs 4. identify predictors of response to specific treatments, and develop precision medicine programs in hematology based on Real World Evidence RWD 5. measure patient-reported outcomes (PRO) and quality of life (QoL) in a real world MDS setting

Study Details

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