Towards systematic nomenclature for cell-free DNA

Abel J. Bronkhorst, Vida Ungerer, Frank Diehl, Philippe Anker, Yuval Dor, Michael Fleischhacker, Peter B. Gahan, Lisa Hui, Stefan Holdenrieder, Alain R. Thierry*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

37 Scopus citations


Cell-free DNA (cfDNA) has become widely recognized as a promising candidate biomarker for minimally invasive characterization of various genomic disorders and other clinical scenarios. However, among the obstacles that currently challenge the general progression of the research field, there remains an unmet need for unambiguous universal cfDNA nomenclature. To address this shortcoming, we classify in this report the different types of cfDNA molecules that occur in the human body based on its origin, genetic traits, and locality. We proceed by assigning existing terms to each of these cfDNA subtypes, while proposing new terms and abbreviations where clarity is lacking and more precise stratification would be beneficial. We then suggest the proper usage of these terms within different contexts and scenarios, focusing mainly on the nomenclature as it relates to the domains of oncology, prenatal testing, and post-transplant surgery surveillance. We hope that these recommendations will serve as useful considerations towards the establishment of universal cfDNA nomenclature in the future. In addition, it is conceivable that many of these recommendations can be transposed to cell-free RNA nomenclature by simply exchanging “DNA” with “RNA” in each acronym/abbreviation. Similarly, when describing DNA and RNA collectively, the suffix can be replaced with “NAs” to indicate nucleic acids.

Original languageAmerican English
Pages (from-to)565-578
Number of pages14
JournalHuman Genetics
Issue number4
StatePublished - Apr 2021

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