NOV 20, 2019 12:27 PM PST

New diagnostic technology seeks out cancer DNA in blood

For many cancers, early detection has a tremendous impact on patient outcomes. Yet, sadly, many of the most common malignancies, like those of the stomach, colon, liver, breast, and lung, still lack robust diagnostic tests.

In a recent TEDx Talk, Dr. Anne Marie Lennon presented exciting clinical findings from testing a new molecular diagnostic platform developed by herself and colleagues at Johns Hopkins University. This cutting edge technology, called CancerSEEK, has the potential of being a game-changer for catching cancer earlier, by accurately detecting trace amounts of cancer DNA with a simple blood test.

Lennon, a medical doctor and Associate Professor of Medicine at Johns Hopkins, is an expert in early cancer detection and prevention, having authored over 100 peer-reviewed papers on the topic.

The problem with spotting cancer molecules circulating in the bloodstream is that they are present only in extremely minute quantities. As Lennon describes it: it’s like finding a needle in a haystack. For every 10,000 DNA fragments in a cancer patient’s blood sample, only between 1 and 5 of those are mutated sequences, indicative of the presence of disease.

The first iteration of the platform, known as Safe-SeqS, used a DNA barcode attached to a single mutant DNA template as a means to gauge the system’s sensitivity. Sequencing DNA in blood draws from cancer patients and healthy controls revealed that Safe-SeqS could positively identify around 30 percent of those taken from pancreatic cancer sufferers.

This was in itself a major milestone, considering no early detection strategies for pancreatic cancer currently exist and consequently, only 7 percent of diagnosed patients survive the disease.

In a bid to improve Safe-SeqS’ diagnostic capabilities, the researchers took a two-fold approach towards designing CancerSEEK. This new platform combed liquid biopsies, picking up both tumor DNA as well as other known molecular markers associated with a variety of common cancers. This system doubled its hit rate with a median of 70 percent of cancer samples correctly identified, with no false-positive hits for healthy controls.

Among CancerSEEK’s most impressive scores was a 98 percent positive discovery of samples from patients with liver and ovarian cancers.

On a positive note, CancerSEEK looks to have a clear path to becoming a routine part of medical care, with the inventors already hauling in $110 million in investment dollars to commercialize the technology.

Sources: TEDx Talks, Johns Hopkins University

About the Author
  • Tara Fernandez is a Cell Biologist who works on commercializing new technology in the biotechnology industry. Her areas of interest include innovation in molecular diagnostics, cell therapies and nanotechnologies. She actively participates in various science communication and public engagement initiatives to promote STEM in the community.
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