BillionToOne, a Menlo Park-based molecular diagnostics company, will present new data showcasing significant advancements in liquid biopsy technology at the upcoming American Association of Cancer Research (AACR) Annual Meeting, taking place April 25-30, 2025, in Chicago.
The company's research focuses on improving the accuracy and clinical utility of circulating tumor DNA (ctDNA) analysis, with three distinct innovations being highlighted at the conference.
"These data presented at AACR represent our dedication in advancing liquid biopsy testing with our proprietary single molecule precision technology and setting new standards in what can be achieved with plasma-based tests," said Dr. Gary Palmer, Chief Medical Officer, Oncology at BillionToOne.
Enhanced Tumor Fraction Estimation
BillionToOne researchers will present a novel approach for tumor fraction estimation and tissue copy number inference using copy number signals from liquid biopsy assays. This methodology aims to provide more accurate assessment of tumor burden from blood samples, potentially eliminating the need for invasive tissue biopsies in certain clinical scenarios.
The presentation, titled "Tumor fraction estimation and tissue copy number inference using copy number signal from a liquid biopsy assay," will be displayed on April 29th from 9:00 AM to 12:00 PM in Poster Section 20.
Novel GNA11 Pseudogene Discovery
In a significant finding for cancer diagnostics, BillionToOne scientists have identified a previously unknown processed pseudogene of GNA11. This discovery has important implications for liquid biopsy accuracy, as pseudogenes can potentially interfere with mutation detection if not properly accounted for in diagnostic algorithms.
Details of this discovery will be presented in "Detection of a novel GNA11 processed pseudogene from cfDNA and implications for liquid biopsy" on April 29th from 2:00 PM to 5:00 PM in Poster Section 31.
Epigenetic Approaches to Tumor Burden Measurement
The third presentation focuses on the correlation between circulating cell-free methylated tumor DNA measurements and plasma variant allele frequency (VAF)-based tumor fraction estimates. This epigenetic-based approach offers a complementary method for assessing tumor burden, potentially providing more comprehensive information about cancer progression and treatment response.
This research, titled "Circulating cell-free methylated tumor DNA measurements correlate with plasma VAF-based tumor fraction estimates," will be presented on April 29th from 2:00 PM to 5:00 PM in Poster Section 32.
Clinical Implications
These technological innovations collectively enhance the accuracy and robustness of ctDNA-based cancer profiling and monitoring. Improved liquid biopsy techniques could significantly impact clinical practice by enabling more precise treatment decisions, earlier detection of disease progression, and better monitoring of treatment response.
The ability to accurately analyze tumor DNA from a simple blood draw represents a major advance in precision oncology, potentially reducing the need for invasive procedures while providing clinicians with more timely and comprehensive information about a patient's cancer.
About BillionToOne's Technology Platform
BillionToOne's innovations are built upon their proprietary single-molecule NGS (smNGS) platform, which includes the patented Quantitative Counting Template (QCT) technology. This platform is unique in its ability to accurately count DNA molecules at the single-molecule level, enabling highly sensitive detection of rare genetic variants.
The company's multiplex methodology allows for simultaneous analysis of multiple genetic markers, making their tests both comprehensive and efficient. This technological foundation supports BillionToOne's mission to make molecular diagnostics more accurate, efficient, and accessible to all patients.
Founded with a focus on precision diagnostics, BillionToOne continues to push the boundaries of what's possible in liquid biopsy testing, with potential applications across multiple cancer types and stages of disease.
