Institut für Hämatopathologie Hamburg

Tumor-Informed vs. Tumor-Agnostic ctDNA MRD Testing

ctDNA-based MRD assays differ fundamentally in their test design, sensitivity, and data handling. Understanding these differences is critical when selecting an approach for ultra-sensitive MRD monitoring in clinical practice and research.

Tumor-informed MRD testing

Tumor-informed MRD assays are designed based on patient-specific tumor mutations identified from tumor tissue. These variants are then used as personalized markers for longitudinal ctDNA monitoring in blood samples.

Tumor-agnostic ctDNA testing

Tumor-agnostic ctDNA assays analyze predefined genomic regions or mutation panels without prior knowledge of the individual tumor genome. These approaches can be applied without tumor tissue and are commonly used for mutation profiling or broader screening purposes.

Sensitivity and methodological considerations

Ultra-sensitive MRD detection requires the reliable identification of very low ctDNA levels against a high background of normal DNA. Tumor-informed assays leverage patient-specific variants, which reduces background noise and supports highly specific detection.

Tumor-agnostic approaches rely on recurrent mutations and may be limited by biological background signals such as clonal hematopoiesis, particularly at very low ctDNA levels.

Whole-genome sequencing and assay design

The breadth of genomic information used during assay design directly influences the selection of tumor-specific variants. Whole-genome sequencing enables comprehensive variant discovery across the entire tumor genome, supporting robust personalized assay design for MRD monitoring.

Approaches based on smaller genomic regions or predefined panels focus on a limited subset of variants and serve different clinical purposes.

Methodological comparison at a glance

Methodological comparison diagram Two neutral workflows: tumor-informed MRD uses tumor tissue, whole-genome sequencing, patient-specific variants, and longitudinal ctDNA monitoring; tumor-agnostic MRD uses a predefined panel and ctDNA analysis. Tumor-informed MRD Tumor tissue Whole-genome sequencing (WGS) Patient-specific variants (assay design inputs) Longitudinal ctDNA monitoring Tumor-agnostic MRD Predefined panel ctDNA analysis

Methodological comparison

Dimension Tumor-informed MRD Tumor-agnostic ctDNA
Tumor tissue required Yes No
Test personalization Patient-specific Panel-based
Typical use case Ultra-sensitive MRD monitoring Mutation profiling / screening
Background noise Low Higher (e.g. clonal hematopoiesis)
Sensitivity at very low ctDNA High Method-dependent
Variant selection Tumor-specific Predefined
Longitudinal monitoring Optimized Limited

Test execution and data processing in Germany and Europe

HPH MRD testing is performed entirely in Germany. Sample processing, sequencing, data analysis, and data storage take place locally and remain within Germany and the European Union. No transfer of patient samples or genomic data to the United States is required.

This approach supports compliance with European data protection requirements and provides clarity for clinical studies and healthcare institutions with strict data governance policies.

Clinical evidence

Multiple clinical studies and reviews have demonstrated the value of tumor-informed ctDNA approaches for MRD detection in various cancer types. Key publications include the DYNAMIC trial and multiple studies by Tie et al. and others.

Learn more

Learn more about the HPH MRD approach for tumor-informed, whole-genome sequencing-based MRD testing.

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