Thanks to breakthroughs in technology, the market for genetic tests that give patients information about their genes has surged over the past decade. According to one recent estimate, there are now more than 60,000 on the market. But in the race to profit from this exploding industry, CBS News found some may be promising more than science can deliver.
In the fight against cancer, a test that could detect a tumor before a patient shows symptoms would be a game-changer. Best case scenario: that's still three to five years away, reports CBS News correspondent Jim Axelrod. But a CBS News investigation found one test on the market now that could give patients a false sense of security about their cancer risk.
At a healthcare conference in Silicon Valley a few weeks ago, biotech pioneers pitched the latest and greatest in personalized healthcare.
"This has the potential to totally change not just cancer but all of medicine," said Dr. Richard Klausner, former head of the National Cancer Institute and a director of Grail, a company developing a liquid biopsy, which is a blood test for cancer.
According to Klausner, someone with no symptoms could get his or her blood drawn and determine whether he or she has cancer.
"That's the holy grail," he said.
The idea holds great promise, but Klausner said proving it works will take time.
"The answers are not going to be clear until we do definitive and large scale studies because we need to know, not that this sounds good, but that it's true," he said.
"And any company saying that that time is now?" Axelrod asked.
"We just don't have the clinical data yet, and we have to get it," Klausner said.
There is a lot of incentive: the liquid biopsy market is estimated to be worth $22 billion by 2020. Another company after a piece of it is San Diego-based Pathway Genomics.
Pathway's board members include the former chair of the Joint Chiefs of Staff Peter Pace, former Secretary of Commerce Barbara Franklin and Newt Gingrich. The company raised $40 million in its last round of fundraising.
Pathway raised their profile on an episode of "Keeping up with the Kardashians."
But what caught our attention is the test Pathway launched in September called the CancerIntercept Detect and Monitor.
Available by physician order for as little at $299, Pathway's marketing claimed it could do what others say is years away.
"CancerIntercept can detect a growing tumor in the body, before the patient may notice symptoms - it's like a cancer stethoscope for detecting and monitoring cancer," a marketing video claimed.
A few weeks ago, we visited Pathway to ask them about their claims. Before we sat down with CEO Jim Plante, they played us that video.
"We just watched a video upstairs and it says the liquid biopsy will detect cancer before symptoms," Axelrod told Plante.
"It may. May, so we say--" Plante responded.
"That's not what the video says," Axelrod pointed out.
"It says it may. We don't say-- we don't say will. We say may," Plante said.
"You don't make the claim that you can detect cancer?" Axelrod asked.
"We say the information can be used to help guide potential early diagnosis," Plante said.
We also asked Plante about a chart showing the advantages of CancerIntercept over a traditional tissue biopsy.
"We never say it replaces solid tissue biopsy," Plante said.
"This chart looks like an either/or, Jim, doesn't it?" Axelrod asked.
"No, it's not an either/or," Plante said.
"Tumor Biopsy versus CancerIntercept Liquid Biopsy?" Axelrod said.
"It's an additional tool in the toolbox," Plante said. "It's one piece of information that helps, you know, guide the physician-patient discussion."
"While it's good to have extra tools, that doesn't mean we should be using them on our patient outside of research studies," said Stanford cancer researcher Dr. Max Diehn.
Pathway cites Diehn's research as evidence their test can detect cancer in otherwise healthy patients.
"I think we're still years away from that possibility," Diehn said. "That absolutely requires thousands of patients, and long-term trials to prove that."
"Thousands of patients, years of testing, millions of dollars," Axelrod said.
"Correct," Diehn said.
"And if a company isn't doing any of those three?" Axelrod asked.
"Then I don't think I would order that test," Diehn responded.
Pathway has three clinical trials underway to study its liquid biopsy, but they all started months after the test was put on the market. Following our interview, Pathway removed that marketing video from its website, telling us they had "proactively decided to limit some of our marketing activities associated with CancerIntercept."
In September, the FDA sent Pathway Genomics a letter about CancerIntercept, citing concerns the test did not have "adequate clinical validation and may harm the public health."
The FDA told CBS News they consider tests like this one a "major health risk," the main concern being that patients and physicians might make major health decisions based on information we don't yet fully understand. The FDA does not currently oversee tests like this, but are in the process of drafting the framework to regulate them.
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