Lexicon for Clonal Hematopoiesis in Liquid Biopsy
Historically, clonal hematopoiesis (CH) has been recognized as a confounder of cell-free DNA (cfDNA) testing. Recent evidence now demonstrates the role of CH as a risk factor in health, generating distinct sources of cfDNA that can be leveraged for liquid biopsy diagnostics. Nonetheless, gaps in standardization challenge the advancement of such diagnostics from development to regulatory approval, through clinical trials, and ultimately, to routine implementation. In 2024, the Blood Profiling Atlas in Cancer (BLOODPAC) Consortium, a collaborative infrastructure for developing standards and best practices for liquid biopsy assays, established the CH/clonal hematopoiesis of indeterminate potential (CHIP) Working Group to address the need for accurate identification and removal of CH from liquid biopsy results. As a first step to support the interpretability of CH/CHIP results, the Working Group developed this lexicon to standardize terms and provide a unified vocabulary related to CH and liquid biopsy, DNA sequencing tests, biomarkers, and clinical use cases, facilitating communication within the field. BLOODPAC's CH/CHIP Working Group believes that terminology agreement across these various stakeholders can improve communication in the field and unify future data collection efforts across studies.
Authors
- Christine Lo (ORCID: https://orcid.org/0000-0003-0969-9973)
- Ahmet Zehir (ORCID: https://orcid.org/0000-0001-5406-4104)
- Robert Tell
- Carolyn C. Compton (ORCID: https://orcid.org/0000-0002-6904-2765)
- Michelle Beidelschies (ORCID: https://orcid.org/0000-0002-6344-0674)
- Rina Kansal (ORCID: https://orcid.org/0000-0003-4289-3057)
- Martin You
- John Chih-An Hu
- Marisa M. Juntilla (ORCID: https://orcid.org/0000-0003-0872-9341)
- Donald J. Johann
- Stephen Cristiano (ORCID: https://orcid.org/0000-0002-7375-2364)
- James H. Godsey
- Vaidhyanathan Mahaganapathy (ORCID: https://orcid.org/0000-0003-0577-2870)
- Lauren C. Leiman
- Usha Singh
- Dorys Lopez Ramos (ORCID: https://orcid.org/0009-0008-1415-3135)
- Andrew Anfora (ORCID: https://orcid.org/0000-0003-3849-1784)
- Gargi D. Basu
- Hugh Russell
- Daniel Stetson
- Christian Rolfo
- David Merriam
Institutions
- Johnson & Johnson (United States) (US)
- Larry Ellison Foundation (US)
- Abbott (United States) (US)
- Clinical Research Consulting (US)
- CCC Diagnostics (United States) (US)
- Guardant (United States) (US)
- Exact Sciences (United States) (US)
- Instituto de Investigación Biosanitaria de Granada (ES)
- Tempus Labs (United States) (US)
- Versiti Blood Center of Wisconsin (US)
- Natera (United States) (US)
- AstraZeneca (United States) (US)
- Arizona State University (US)
- University at Buffalo, State University of New York (US)
- Quest Diagnostics (United States) (US)
- University of Arkansas for Medical Sciences (US)
Publication Details
- Journal
- Clinical and Translational Science
- Published
- 2025-12-26
- DOI
- https://doi.org/10.1111/cts.70463
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Bristol-Myers Squibb
- University of Southern California
- Memorial Sloan-Kettering Cancer Center
- Association for Molecular Pathology
- Quest Diagnostics
- Veracyte
- Natera
- Foundation Medicine