When Santa Cruz professor Richard Otte, 61, got an annual screening test for prostate cancer, called a PSA, the results came back negative. Shortly thereafter, he reached out to his son Gabriel, an entrepreneur and computational biologist, to let him know the good news.
But Gabriel was skeptical. He knew that the PSA test sometimes doesn't pick up on the cancer, even when it's present. So he asked his dad to take a test that was developed by Gabriel's own biotech startup, Freenome, which uses advanced computing to unearth biological signatures or signs of cancer from DNA fragments in the blood. Otte is hoping that Freenome's cancer-detection test will hit the market in the next nine months, once it has been peer-reviewed.
"I knew he was getting older and could potentially have it," Gabriel Otte told me. "So I asked if he wanted to take our test just in case. And it came back positive."
Sure enough, Richard's doctors found evidence of tumors from a standard tissue-based biopsy. He was diagnosed with a fairly aggressive form of prostate cancer, and immediately began treatment. He's currently awaiting a follow-up appointment to determine if he's in remission. "An annual screening would have been insufficient in this case," Otte says. "Let's just say, I'm glad we caught it when we did."
Prostate cancer affects 1 in 7 men, but some patients with the more high-risk form of the disease don't get diagnosed until it's too late. One challenge is that the cancer often presents with no symptoms in the earlier stages. And in cases where patients opt for a PSA, false negatives are fairly common. In 2015, more than 27,540 in the U.S. men died from the disease (although it's worth noting that many of these patients actually died from heart disease because their cancer was so slow-growing).
Freenome is just one of a growing number of startups in the so-called liquid biopsy space. This crop of biotech companies are taking advantage of the decades-old scientific discovery that microscopic amounts of DNA from cancerous cells are traceable in the blood. Rather than relying on tissue biopsies, which are invasive and expensive, the new liquid biopsy tests only require a smallish sample from the blood.
The liquid biopsy market is currently split into two camps. One group of companies is researching new ways to detect and diagnose early-stage cancers (a veritable moonshot); the other is developing tests that oncologists can use to understand how an individual patient's cancer is progressing and treat it accordingly (a near-term opportunity, but smaller market). By far the most mature company in the space, Guardant Health, is in the latter category. It has a test on the market that has been used by about 20,000 patients with advanced cancers.
But Otte is well aware that patients have a better shot at survival if they're diagnosed when the cancer is still in the early stages. "What we're trying to do is save lives by finding the disease, and more specifically, figuring out the nature of the tumor," he says. Freenome and a handful of competitors, including Grail, which is funded by the biotech giant Illumina, have entered the race to bring a diagnostic test to market. Among the myriad hurdles they face is that the resolution of tumor DNA in the blood is tiny and therefore easy to miss. These companies are essentially looking for a needle in a haystack, but without advanced warning that the needle even exists.
Otte remains confident that the test will be available in the coming year, at a price point that will be affordable even to those who lack insurance. Otte declined to provide specifics, but shared that the company will initially focus on cancers that are the most aggressive. "To put it generally, we are looking for cancers where finding something at the right time can make a difference between life and death."