Cell-free whole genome and epigenome sequencing to detect and classify cancers from plasma circulating DNA

Advancing early detection, diagnosis and monitoring of cancer through liquid biopsies

A team of researchers in Ontario and BC is hoping to transform how we detect, diagnose and monitor cancer thanks to new funding from the Marathon of Hope Cancer Centres Network (MOHCCN) and the Terry Fox Research Institute.

The team, which is led by Drs. Trevor Pugh (Princess Margaret Cancer Centre, University Health Network) and Samuel Aparicio (BC Cancer Research Institute), will use this new funding awarded through the TFRI-MOHCCN Technology Development Awards to create an innovative blood test (known as a liquid biopsy) which detects small fragments on tumour that are circulating in the blood, helping patient avoid invasive and stress-inducing surgeries and biopsies.

"Our goal is to develop an 'all-in-one' blood testing platform that can detect and classify any type of cancer," explains Dr. Pugh. "If successful, this could provide a powerful tool for early detection and real-time monitoring of cancer, significantly improving patient outcomes."

More specifically, the team hopes to validate a new technology called biomodal evoC, which enables the detection of alterations in both the cancer genome and methylome with unprecedented precision using a simple blood test. They will do this by studying samples from various cohorts supported by the MOHCCN Network, spanning six types of cancer, including individuals who are hereditary cancer gene carriers but have not yet developed the disease.

"Patients with different types of cancer could benefit immensely from this innovation," says Dr. Aparicio. "Not only does it enable early detection, but it also allows us to monitor treatment responses and study inoperable tumours."

In addition to helping advance the use of these tests in the clinic, the project will also help evaluate how this technology can be adopted uniformly throughout the Network. This could mean that in the future, a single, comprehensive test that utilizes a simple non-invasive blood draw could be deployed across the country to cancer patients who do not currently have currently have access to large hospitals.

“There’s a lot of work to do to get there, but the potential for impact is immense,” says Dr. Pugh.