Researchers Develop Liquid Biopsy Approach to Identifying Early-Stage Cancers

Researchers have developed a “novel liquid biopsy approach to identify early-stage cancers by measuring the random variation in DNA methylation patterns, rather than the absolute level of those patterns as in other liquid biopsies.”

The method, utilizing a new metric called “Epigenetic Instability Index (EII), successfully distinguished – with high accuracy – patients with early-stage lung and breast cancers from healthy individuals.” This suggests that “quantifying the randomness of the cancer epigenome – a phenomenon the authors describe as ‘epigenetic instability’ – could provide a more robust and universal biomarker for early cancer detection than currently available methods.”

Liquid biopsies typically “detect specific, absolute changes in methylation, a chemical reaction in which a methyl group is added to DNA at individual sites in the genome. However, these tests are typically developed through studying a specific cohort of people — who are similar in age, race or disease development, for example — and tend to work for that cohort of people but fail to perform as well in broader, more diverse populations.” The research team analyzed “publicly available cancer DNA methylation datasets from 2,084 samples to identify a panel” of genomic regions that captured methylation variability across multiple cancer types.

The team trained a machine learning model to “distinguish cancer signals from healthy signals.” Stage 1A lung adenocarcinoma was identified with “81% sensitivity at 95% specificity,” and the tool detected “early-stage breast cancer with approximately 68% sensitivity at 95% specificity.”