liquid biopsy

When excitement around early cancer detection first surfaced, we heard about the “pan-cancer” test that would look for any and all cancers, and early. Now that we’re some years into it, the approach is turning out to be more of a narrow one. Which cancer will we likely see targeted first with an FDA cleared test? Colorectal, according to today’s guest.

We’re joined by Lance Baldo, Chief Medical Officer at Freenome, a company based in South San Francisco, California that has raised over a billion dollars to pursue early cancer detection. They are engaged in several large studies, including the largest prospective study ever to detect colorectal cancer with over 40,000 enrollees.

Lance readily admits that early cancer detection is difficult. The company is using a multi-omic—genomics and proteomics-- approach to improve the sensitivity and specificity of its testing which sets them apart from its competitors. But Lance says there can be a trade-off between sensitivity and specificity. And he points out that each cancer is different when making the call.

“It’s our philosophy that every cancer will have a slightly different need in terms of the interplay between sensitivity and specificity. That philosophy is different from others in this space."

Why is Freenome pursuing colorectal cancer first? Where are they at on their timeline of commercialization? And what will the product launch look like—how will patients engage with this new kind of testing?

The great promise of liquid biopsy technology is in early cancer detection. That is, it's the great future promise. Right? This past month at the annual cancer conference, ASCO, we heard about one such flagship company announcing just which technology they were going to use to do it--DNA methylation.

Well . . .it turns out there is a company, Laboratory for Advanced Medicine, that has been using DNA methylation for their liquid biopsy early cancer detection tests for a couple years already. Tests which are for sale now. On their website, they say they are "saving lives by detetecting cancer early." Presenting data for their technology back in 2017, the company offers two liquid biopsy tests commercially: one for liver cancer and the other, a broader test which confirms that a patient has a cancer, either lung, breast, colon or liver.

“This general test has clinical utility because often times the physician and the patient might have a concern about cancer because of symptoms. The physician has done other tests and eliminated other ailments, and the patient and physician have come to a working hypothesis that maybe the patient has a particular type of cancer. And so they do this test with us, and we report back with high accuracy that, yes, they do have a cancer or, no, they do not.”

Richard Brand, the CFO for Laboratory for Advanced Medicine, reviews with Theral the company’s tests, telling of several use cases over the past couple years and previews the tests on the horizon. The company looks to be ahead of the pack in a growing field.

Nathan and Laura join Theral for our final review show before the summer break. Have you already headed out on vacation? Take us along and stay current with the top stories in genomics.

This month it's gene patents (yes, Congress is really reviving that debate), another gene therapy with another astronomical price tag, and remembering Dr. Henry Lynch of Lynch Syndrome fame.

Sequencing goes to the world of infectious disease.

Building on the work with cell free DNA in prenatal diagnostics and cancer genomics, the team out of Steve Quake’s lab that brought us Moleculo has now launched a new company in infectious disease called Karius. In today’s interview, Karius CEO and co-founder, Mickey Kertesz, recalls the day four years ago when a clinician urgently contacted he and his team with an infected patient that could not be diagnosed by any traditional method. The team took on the case, and though the patient died within a couple days--Mickey recalls the Saturday when the team heard—they went on working on the diagnosis.

“We were very focused and went on fixing the software as if not wanting to believe what we heard.”

After a week the team did arrive at a diagnosis which was confirmed by the autopsy. That patient became patient zero, and the event turned Mickey again into an entrepreneur.

"This was not just cool research, this needs to go quickly into patient and clinician hands,” he thought.

Today Karius is an active company, selling their tests to hospitals around the country, working first on the most difficult cases.

Will these diagnostic tests by sequencing replace the traditional blood tests some day?

“Oh yeah. In a few years, this will be the first line of defense," Mickey says.

By listening to him, you wouldn’t know that Peter Maag, the CEO of CareDx, was fighting to keep his company from the brink. We booked Peter for the show after news came out that CMS was once again threatening to lower reimbursement rates of established diagnostic tests.

Peter sounds remarkably positive in the face of the recent announcement by the Center for Medicare and Medicaid Services (CMS) that, come January, they would be cutting the reimbursement rate for CareDx's Allomap test by 70%. Because the test is used mostly by Medicare patients, this cut could threaten the company's very existence.

Why is this happening? Ten years ago, yes . . . but why is CMS still jerking diagnostics companies around when these products offer the very promise that President Obama talked about when he announced the Precision Medicine Initiative?

CareDx and the other companies, such as well known Genomic Health and Veractye, have thirty days to reply. Peter has some strong voices backing him up and is optimistic about getting the disastrous change negated.

He’s also very happy about a new test CareDx is working on using cell free DNA from not only heart transplant recipients but also for the transplant organs as well.

If diagnostics companies could focus more on their new products and less on continually fighting for a dime over a nickel with CMS, the future of precision medicine would be much brighter.