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Circulating Nucleic Acids/Liquid Biopsy Interest Group

Although cell free DNA was discovered in human plasma by scientists in the 1940s, only recently has interest in circulating nucleic acids risen in prominence. The most commonly-studied species, circulating cell-free DNA, has a very short half-life and is typically associated with the turnover of normal or diseased tissues. However, studies of cell-free nucleic acids also extend to the repertoire of circulating mitochondrial DNA, DNA of fetal or placental origin, methylated DNA, damage associated molecular patterns (DAMPs), aggregates of DNA particulates, cancer-associated circulating tumor DNA, and stable, circulating RNAs. In September 2018, NIEHS Inflammation Faculty hosted a workshop focused on Circulating Cell-Free DNA. With almost 100 registered attendees, the focus of this workshop was to identify methods used in clinical practice that would be relevant to toxicology studies. Representation from NIH intramural labs included investigators from NHGRI, NCI, NHLBI and NIEHS. Scientific focus areas of circulating nucleic acids (CNA) research and biomarker studies discussed included: (a) identifying mechanisms of recurrence in prostate cancer; (b) earlier screening of prenatal genomic abnormalities; (c) understanding tissue damage associated with sickle cell crises; (d) monitoring stress; (e) tissue-specific exposures to environmental toxins in adults and the unborn; (f) guiding treatment of metastatic tumors; and (g) following patients diagnosed with systemic lupus erythematosus. Key areas of discussion included limitations of detection, controlling error rates in analysis, and interpretation of results with appropriate biological context.

We have proposed the creation of a new SIG focusing on liquid biopsies and circulating nucleic acids with the purpose of: (1) working towards establishing standard practices for CNA studies; (2) sharing and optimization of CNA techniques; (3) communication of CNA research. We anticipate broad appeal across many NIH institutes. Anyone interested in joining should contact Adam Sowalsky at


The page was last updated on Monday, November 19, 2018 - 4:00pm