Next-Generation Sequencing for Measurable Residual Disease Detection in Acute Myeloid Leukemia: From Concept to Clinical Application

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Home breadcrumb-arrow Next-Generation Sequencing for Measurable Residual Disease Detection in Acute Myeloid Leukemia: From Concept to Clinical Application

Juan C. Gomez-Gelvez, MD 
Section Head, Molecular Hematopathology — Henry Ford Health System 

Measurable residual disease (MRD) represents the small number of leukemic cells that persist after treatment—undetectable by morphology yet clinically decisive. MRD status is now recognized as one of the strongest predictive and prognostic biomarkers in acute myeloid leukemia, influencing relapse risk, survival, and post-remission management. 

In this on-demand session, Dr. Gomez-Gelvez walks through the principles, practicalities, and clinical impact of using NGS to detect MRD with high sensitivity. 

What You’ll Learn 

  • Why MRD matters in AML 
    Its role as a predictor of relapse, marker of treatment response, and surrogate endpoint in clinical trials. 
  • How NGS compares to existing modalities 
    Insights into ELN recommendations, and sensitivity comparisons with flow cytometry and other molecular methods. 
  • Building a reliable NGS-MRD workflow 
    Key considerations for assay design, including: 
    – Optimal sampling time points 
    – Marker selection and deamination-filtering criteria 
    – Pre-analytic and analytic validation requirements 
  • Early findings from a 33-gene NGS panel analysis 
    Demonstrating achievable sensitivity down to 0.01% (10⁴) and highlighting its broad applicability across AML patient profiles. 

Key Takeaways 

  • NGS-based MRD assays deliver high sensitivity, even in patients lacking recurrent fusions or PCR-amenable mutations. 
  • MRD positivity by NGS is strongly associated with higher relapse risk and worse survival
  • Standardization across sampling, assay parameters, and reporting is critical for clinical implementation. 
  • As evidence grows, NGS-MRD is poised to become central in risk stratificationpost-remission therapy decisions, and clinical trial endpoints

Why Watch? 

If you’re advancing AML diagnostics or shaping MRD strategies, this session provides clear, practical guidance from clinical concept through real-world application. 

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