Lexicon for Clonal Hematopoiesis in Liquid Biopsy

Area of Science:

• Genomics
• Biomarkers
• Oncology

Background:

• Clonal hematopoiesis (CH) historically confounded cell-free DNA (cfDNA) testing.
• Emerging evidence highlights CH as a health risk factor and a source for liquid biopsy diagnostics.
• Standardization gaps hinder the clinical translation of CH-based liquid biopsy assays.

Purpose of the Study:

• To address the need for accurate identification and removal of CH from liquid biopsy results.
• To develop a standardized lexicon for CH/CHIP and liquid biopsy terminology.
• To facilitate communication and unify data collection across stakeholders in the field.

Main Methods:

• Establishment of the CH/clonal hematopoiesis of indeterminate potential (CHIP) Working Group by the BLOODPAC Consortium.
• Development of a unified vocabulary for CH, CHIP, liquid biopsy, DNA sequencing, biomarkers, and clinical applications.
• Focus on standardizing terms to improve interpretability of CH/CHIP results.

Main Results:

• A lexicon has been developed to standardize terminology related to CH/CHIP.
• The lexicon aims to unify vocabulary for liquid biopsy, DNA sequencing, biomarkers, and clinical use cases.
• This initiative supports the accurate identification and interpretation of CH/CHIP in liquid biopsies.

Conclusions:

• Standardized terminology is crucial for advancing CH/CHIP diagnostics in liquid biopsies.
• Agreement on terminology will improve communication among researchers, clinicians, and regulatory bodies.
• The developed lexicon facilitates consistent data collection and enhances the clinical utility of liquid biopsy assays.