Circulating Tumor DNA Quantification Method Helps to Select Patients for Liquid Biopsy WES

NEW YORK (GenomeWeb) – Researchers from several Boston-area institutions have developed a method to quantify circulating tumor DNA in a blood sample, allowing them to quickly identify which patients have high enough levels to allow for accurate genome-wide sequencing without the need to take a tissue biopsy.

In a study this week in Nature Communications, investigators from the Broad Institute, Dana Farber Cancer Institute, the Koch Institute for Integrative Cancer Research, and Massachusetts General Hospital described their evaluation of the tool — called ichorCNA — in 1,439 blood samples from 520 metastatic breast or prostate cancer patients.

The approach uses low-coverage whole-genome sequencing to both detect copy number alterations and to quantify tumor fraction. According to the paper, the authors have filed a patent application on their method, but their use of it currently is centered on applying it to research studies.

“Using copy number [changes] to distinguish tumor from normal is not new, but using it to quantify tumor fraction has been challenging,” the study’s first author Viktor Adalsteinsson said this week.

Adalsteinsson, who leads the Blood Biopsy Team at the Broad, a multi-institutional collaboration to profile cancer genomes from blood, has been in charge of a variety of

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