Bert Vogelstein was just a med student in the 1970s when he encouraged his father to see a doctor about a weird lump on his cheek.
After a few tests, doctors diagnosed him with an aggressive salivary cancer. That lump that Vogelstein thought was a tumor? It was an enlarged salivary gland blocked by the cancer. If the inflammation hadn’t happened, his dad might have not have been diagnosed until it was too late for treatment. Instead, his father lived another 40 years. “He only survived because it was detected early.”
Vogelstein, an oncologist and researcher at Johns Hopkins Kimmel Cancer Center, sees a future in which everyone can get a reliable early diagnosis and have a better chance of survival.
Vogelstein recently launched a company called Thrive Earlier Detection that will commercialize a simple blood test to screen otherwise healthy individuals for many forms of cancer—long before they display any symptoms. The test finds cancer by looking for genetic mutations and proteins using a combination of DNA sequencing, protein detection, and artificial intelligence.
The type of test, a liquid biopsy, is not new. Liquid biopsies are frequently used to identify the best course of treatment for cancer patients or as a way to check cancers in hard-to-reach places like the lungs.
But using liquid biopsies on seemingly healthy patients who show no symptoms of cancer is new. If successful, the tests hold the potential to become standard screening at annual exams—a non-invasive yet broad screening routine that could detect cancer long before the disease can spread.
Thrive’s first trial of 10,000 healthy patients is underway at Danville, Pa.-based Geisinger Health Systems. So far, Geisinger’s scientific team is encouraged by the data— but they say more tests are needed. “If it does succeed, it would be a huge breakthrough,” says David Ledbetter, Geisinger’s chief scientific officer. “Because we all know that the earlier you diagnose cancer, the better the outcomes.”
Cancer diagnostics, though, are riddled with cautionary tales of too much optimism and misdiagnoses. The PSA test, or the prostate specific antigen, was met with lots of excitement for its promise of detecting prostate cancer, but it wound up delivering both false positives and negatives. According to the National Cancer Institute, 25% of men receive a false-positive PSA test result that leads to a biopsy.
Debate has also emerged about mammograms—when to get them and whether the benefits outweigh the risks. Many screenings have led to unnecessary biopsies. According to the National Cancer Institute, 9.5% of tested women will have a false-positive exam, and at least half of U.S. women who are screened each year over 10 years will experience a false positive, with 7% to 17% of that group undergoing biopsies.
Launched last spring, Thrive is flush with $110 million from investors, led by Third Rock Ventures and has attracted an experienced executive team drawn from biotech firms like Foundation Medicine, which already offers liquid biopsy genomic tests for late stage cancer patients.