Dr. Victor Velculescu envisions a day — not so far off — when screening for cancer will become as simple as a blood test during your annual physical.
Unique cancer mutations show up in microscopic fragments of DNA in a patient's blood, which can give physicians a telltale sign of the presence of the disease in almost all types of cancer mutations — within cells or floating freely in the bloodstream.
The "liquid biopsies," as the tests are known, have become something of a Holy Grail in cancer treatment among physicians, researchers and companies betting big on the technology. Liquid biopsies — unlike traditional biopsies involving invasive surgery — rely on an ordinary blood draw. Advances in sequencing the human genome, enabling researchers to detect genetic mutations of cancers, have made the tests possible.
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Cancer cells
"It is revolutionary," said Velculescu, the co-director of cancer biology and professor of oncology and pathology at the Johns Hopkins University Kimmel Cancer Center. "I think in the next, let's say, five years, it'll become part of an annual physical."
That could lead to early detection of cancers, said Velculescu, who, along with colleagues at Hopkins, has studied liquid biopsies in hundreds of patients with lung, breast, colon, pancreatic and ovarian cancers.
"Early detection has exciting possibilities because it allows us to imagine getting cancers at the time at which they could still be taken out surgically," Velculescu noted. "It allows us to think about using therapies that'll be more effective, because they'll be applied earlier on in the disease — with all sorts of improvements in the overall outcome, survival and morbidity or how patients do — just based on detecting the cancer earlier."
The liquid biopsies are already being used commercially on a limited basis, though mainly in patients with Stage 3 or Stage 4 cancers, to help determine how well treatment is working.
An exciting medical breakthrough
As recently as a few years ago, the liquid biopsies were rarely used except in research. Today, thousands of the tests are being used in clinical practices in the United States and abroad, including at the M.D. Anderson Cancer Center in Houston; the University of California, San Diego; the University of California, San Francisco; the Duke Cancer Institute and numerous other cancer centers.
And Silicon Valley venture firms like Sequoia Capital, New Enterprise Associates and Khosla Ventures have invested tens of millions of dollars in the technology. That's because the market potential is huge.
Velculescu and fellow Hopkins researcher Luis Diaz have co-founded Baltimore-based Personal Genome Diagnostics to develop the tests. PGD raised $21 million in October from New Enterprise Associates, a venture capitalist firm in Menlo Park, California.
On Sunday, Illumina announced the formation of a new company, called GRAIL, which will focus on blood-based cancer screening. The company is majority owned by Illumina and funded by more than $100 million in Series A financing from Illumina and ARCH Venture Partners, with participating investments from Bezos Expeditions and Sutter Hill Ventures.
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