Our Genes Change! New Study Tracks Real-Time Genetic Changes Using Blood-Based Long-Read Sequencing

Ellison Medical Institute researchers have shown that the rate of change of DNA sequence can be tracked over time, opening doors to personalized cancer prevention programs and better early cancer detection

LOS ANGELES, June 11, 2025 /PRNewswire/ -- Researchers at the Ellison Medical Institute (EMI) have developed a novel method to monitor the accumulation and rate of change of genetic mutations in real time using blood samples. Unlike earlier studies that relied on patient samples provided at single timepoints, EMI's study was able to longitudinally follow changes over time. These findings demonstrate that it's possible to observe the buildup of mutations as they happen over short intervals, offering a dynamic view into the rate of change and an individual's biological state.

Published in the Nature Journal, Scientific Reports, the study marks a significant step in the development of personalized prevention strategies and may enable better early cancer detection.

"Rather than waiting for symptoms to emerge, we're using technology to identify who is at higher potential of developing DNA changes, and hence cancer – this could help us intervene sooner with preventive strategies, tailor care more precisely, and improve patient outcomes in impactful ways," said Dr. David Agus, EMI Founding CEO and study senior author. "By integrating advanced sequencing with clinical insight, we're expanding our knowledge of cancer risk assessment and creating new possibilities for personalized care that starts before a diagnosis."

To conduct the study, EMI researchers collected blood samples every three to six months from more than 100 participants – including individuals with and without cancer – over a nine to 18-month period. Using long-read sequencing technology, they analyzed each participant's germline genome in peripheral blood cells at multiple timepoints to detect newly acquired somatic mutations – random mutations that occur over time as cells grow and divide rather than being inherited.

The study found that the number of these mutations increases with age, with roughly 27 additional mutations per decade of life. Researchers further categorize those mutations based on their origin, distinguishing those that arise from the natural aging process, from exposure to tobacco, or from loss of fidelity in DNA replication. It showed that, for certain types, measurable changes can occur within just a few months, reinforcing the value of longitudinal monitoring.

"To enable this research, we built a secure, cloud-based infrastructure and a custom bioinformatics pipeline that applies deep learning to rapidly extract valuable insights from large datasets," said Xingyao Chen, EMI Manager of Data Science and lead author of the study. "This system not only supports reliable scaling but also paves the way for a national validation clinical trial and future clinical integration."

The findings reflect EMI's broader mission to advance patient-centered research and reimagine cancer care. By leveraging emerging technologies and interdisciplinary research, EMI aims to transform how disease is understood, treated, and ultimately prevented.

"What excites me most about this work is its potential to reshape how we think about cancer prevention," said Dr. Naim Matasci, EMI Senior Director of Applied AI Research and corresponding author. "We can now envision a future where care is not reactive, but predictive and personalized to the individual patient, based on their rate of change of DNA. Important insight into DNA repair and fidelity can also be gleaned from the observed outliers."

About the Ellison Medical Institute

The Ellison Medical Institute strives to spark innovation, leverage technology, and drive interdisciplinary, patient-centered research to continually enhance health, reimagine and redefine cancer care, and transform lives.

Established in 2016 as a medical research and development center, the Institute features innovation labs for artificial intelligence and molecular analytics and was among the first organizations to vertically integrate the interdisciplinary study and treatment of disease. We offer multifaceted programs, including a preventative medicine and cancer clinic, cross-disciplinary research laboratories, a health policy think-tank, and community outreach and educational programs.

SOURCE Ellison Medical Institute