This week the always spectacularly organized Tal Behar and her team put on the 5th annual Personalized Medicine World Conference (#PMWCintl). I want to mention a couple highlights from the conference: prenatal diagnostics and cell profiling.
Prenatal diagnostics, or NIPT, is one of the hottest things going in 2013, if not the hottest. And Tal was able to sign up the three leading companies in the space, Sequnom, Ariosa, and Verinata to speak. It’s stunning to hear about the rapid adoption into the clinic these technologies are receiving. Matthias Ehrich, VP of R & D at Sequenom said they’d saved 500 babies. If you’ve been following these companies in the news, you’ll know that their sales are skyrocketing. This is sequencing technology. In the clinic.
Ira Klein from Aetna, a speaker at the conference and <a href="http://www.mendelspod.com/podcast/dx-from-the-payers-perspective-with-ira-klein-aetna>recent guest on Mendelspod, assured me at the break that the success of these prenatal dx companies lies in their ability to demonstrate strong clinical utility. Mark Trusheim, an economist and speaker, echoed Klein. Mark’s presentation showed the economic dangers of stratification-using diagnostics to target smaller audiences. I asked him a common question from our last series on diagnostics: are they undervalued? “Some are,” he said. “When the diagnostic tells a doctor yes, or no, it’s of value. And perhaps those could be valued higher.” The prenatal testing for chromosomal abnormalities offers just such clear information. I wasn’t aware that so many pregnancies were at risk for chromosomal problems. Sequenom claims that 750,000 women in the U.S. are at high risk.
The three speakers had very different approaches which I think reflects on the difference between the companies. (There is a fourth company, Natera, who offers the tests but was not at the conference.) The companies are all suing each other about patents (which I’ll get to in a moment) so first I noticed how civil and complimentary the speakers were of each other. Ehrich from Sequenom stuck closely to the science of their tests. He made the impressive point that in one study, the non-invasive sequencing technology was more accurate than the invasive amniocentesis.
Though a small man in stature, Ken Song, CEO for Ariosa was the bull in the group. Song put forth the largest market numbers. “If we offer the test to women who are 36 years old, why not to those who are 34 and 32” he asked a room so packed there wasn’t even standing room. Ariosa came across as the most agressive, perhaps because they’ve come in on the coattails of Sequenom. They’re offering a test for $800 for which “the others” are charging close to $3,000.
Verinata was represented by Amy Sehnert. Her approach was a conservative one. She stuck to science and fact, again in a tone complimentary of the other two companies. I wondered if her more reserved talk had to do with the fact that Illumina is currently in the process of scooping up Verinata, which she mentioned in passing at the end of the talk. It’s worth repeating. Illumina is buying this company for $450 million. I reminded the crowd of this pretty interesting number and afterwards a former marketing employee from Complete Genomics whispered loudly in my ear: and BGI offered half that for Complete? It’s a great point. Complete Genomics, just down the highway from Verinata, who has been devoted to sequencing human genomes as a service has received much more notoriety than Verinata.
The best line I’ve read about this growing subindustry comes from Andrew Pollack’s article in the NY Times from last Oct. He quotes Dr. Stephen Brown from the University of Vermont who has no financial stake in the the technology. “It’s a game changer,” says Dr. Brown. “You will have dramatically fewer procedures.”
We’ll be doing our own series on Prenatal Diagnostics this Spring, so stay tuned. We’ll be exploring the differences between the companies: their technology, their pricing, and their approach. Finally, the patent issue. All of this is possible as a result of papers published by a Hong Kong researcher, Dennis Lo. Back in the late ‘90’s, Lo et al established that there is indeed cell free DNA in the mother’s blood, detectable by 5 weeks. Sequenom has licensed Lo’s method and claims the other companies are infringing the patent. Verinata has their own patent based on research from Stanford. In January of last year Sequenom sued Ariosa. In response, Ariosa, Verinata, and Natera along with Stanford sued Sequenom, arguing there are differences among the technologies. Will there be a showdown? All par for the course in this industry.
The other cool science I’m going to mention is work being done by Gary Nolan, a professor at Stanford. Nolan is one of the founders of the diagnostics company, Nodality, and has been chipping away over the years at single cell profiling. I’ll be honest and admit that most of his talk was over my head. But I think I got the jist of it. “Looking at the aggregate of one person’s cells is like taking everyone in this room, blending them up, and saying here is the genetic, or biological makeup of one of you,” he started. Nolan showed that individual cells become gateways in functional pathways or networks. A cell says “yes” or “no” to whether something happens downstream. His diagrams remind look more like circuit logic. If this, then this. Each cell has unique functions. This leads to looking at a network of cells because, some are more important than others.
From his note in the program:
...Metabolic elements in networks far from the originating pathology of a cell can act as surrogates of the pathology, reflections of how a drug might be correcting the pathology, or by themselves those surrogates might be modulated en masse to force corrective action upon the pathology. Often, the network is “silent” about the pathology until it is perturbed to reveal how it thinks (much like when you interview a candidate for a job position—you don’t look at their CV alone, you invite them in for questioning).
Science always comes down to the assumptions made by the researcher. These assumptions dictate the outcome. Gary is stepping back saying, hey, there is another premise here. Another foundation upon which biology depends. Gary’s work is being commercialized by DVS sciences, a company offering a ‘mass cytometer” instrument and reagents which were presented at the show by Joseph Victor, CEO of DVS.
What’s the state of personalized medicine in 2013? Each year at this conference I detect less hype and more specific stories. Of technology, of new science, of new companies. I did miss the higher profile talks in the main room as I was emceeing in Track 2, so perhaps I missed some of the hype.
I’ll make a comment on the format. I heard from speakers in every break that 14 minute talks are not enough time to do them justice. I agree with them. Particularly because there was no time for Q & A. The keynote speaker himself, Lee Hood, told me the night before the conference that he was still trying to cut his presentation down to the 14 minute slot. Tal and her team did a great job booking the best speakers and filling up the show with attendees. There are several personalized medicine conferences each year, and PMWC is one of the best, organized to the “t”. It was truly thrilling to feel the enthusiasm and participation of so many as we see the possibilities for human health become better and more personalized. I hope the format itself will also see improvement. Ideas, especially complex ones, need time and much interaction to develop.
Note: Be sure to check out our current show with a speaker at PMWC, Mike Snyder, of Stanford. We follow up with him on his iPOP study and he shares his view of what health is.