Open system genomics: Taking a page from tech's playbookNovember 5, 2013: 11:49 AM ET
Data is being used for much more than analyzing social media audiences or selling shoes. It's being used to save lives.
By Bill Ericson
The American Society of Human Genetics met last week in Boston, and it didn't generate anywhere close to the same buzz as South by Southwest. Or even a more modest confab like a TechCrunch Disrupt. But it would have felt quite familiar to the geek squad.
There was lots of discussion about data and about how open platforms will spawn a new genetics application industry.
In fact, the amount of data coming out of genetic research dwarfs anything in traditional data centers. And there's huge application opportunity associated with it. Yet when is the last time you heard it discussed with the same frequency or passion as Twitter (TWTR) or the latest mobile shopping app?
Dan Primack wrote last May, when Yahoo (YHOO) agreed to acquire Tumblr, that while there would be tons of coverage of the $1.1 billion deal, less likely to generate coverage was the day's bigger M&A news: Actavis (ACT) was buying Warner Chilcott for $8.5 billion:
"So why are us media folks so obsessed with the acquisition of a low-revenue blogging platform and so dismissive of an $11 billion combined revenue company that tries to cure disease and improve health? For one, it's easier for most of us to understand what Tumblr makes than what Actavis or Chilcott make. Second, it's a tech story and there are far more tech-focused media sites than healthcare-focused media sites."
I've always appreciated Dan's candid takes on the venture and startup world, but this column left a lasting impression. This leads me back to Boston and the ASHG conference, and the stories that didn't get broader business coverage.
If there had been many tech media walking the halls tapping into the genomics and genetics panels and poster sessions they would be reporting this week on advancements in PCR and the latest sequencing applications.
PCR is one of those acronyms that mean nothing to the average lay person, but within the science community it gets the Sheldon Coopers of the world lathered up and is a standard underpinning of the healthcare system. PCR is short for Polymerase Chain Reaction, which has a storied history. It starts with its colorful inventor Dr. Kary Banks Mullis, whose autobiography topics included astrology, LSD use and an encounter with an extraterrestrial. He also went on to win a Nobel Prize for The Polymerase Chain Reaction in 1993.
Why should the average Jane or Joe care about PCR? In 1983 it changed the rules in molecular biology by creating a technique used to amplify or reproduce the number of copies of a specific region of DNA. Why is this important? Because you need enough DNA to adequately test and create new applications for disease discovery and monitoring. For the first 25 years of its existence, PCR became an essential technique used in medical and biological research labs, but it didn't change all that much. In the past five years, however, a few pioneering companies have not just refined and advanced the lab technique, they've added new technologies around it. There's now qPCR and dPCR (q for quantitative and d for digital).
And the new growth is just beginning. Frost and Sullivan research shows the worldwide PCR Market generates in excess of $1.2 billion for research, plus another $4 billion for PCR-based diagnostics.
A handful of companies continue to move PCR from analog to digital in a big way, following a path similar to the tech industry. As a long time IT investor, I see many other similarities to well-known tech interoperability breakthroughs. One of the novel digital PCR technologies comes from RainDance Technologies (where I am a board member). RainDance calls their system the "RainDrop" due to its ability to digitize biological molecules and disease markers.
The RainDrop system acts as the "Bluetooth of the Lab," distilling complex specimens into actionable information. For new genetic application developers, the appeal of the RainDrop is that its open system sits on top of billions of dollars of chemistry investments already made in the PCR market.
Not surprisingly, the company is working with teams at leading world research centers on new disease discovery and monitoring applications. What was once a labor-intensive, manual process requiring people in lab coats today sits in a computationally sophisticated box that could easily be mistaken for a small desktop computer. The RainDrop system processes DNA, RNA or microRNA data with accuracy, sensitivity and speed that would make any geek proud.
For instance, consider taking your standard one-liter bottle of water and dividing it into 200 billion containers, enough for every person on the planet to take 20 sips. That's the size of the droplets the RainDrop dPCR system is dealing with. The droplets are so small, you can't see them, yet the company has devised a way to move them around using chips based on SONY's Blu-ray disc technology, which has grooves small enough to manipulate up to 10,000,000 droplets per sample. By isolating genetic material into these picodroplets, RainDance is able to find and count "single disease needles" from the biological haystack.
Researchers are using this technology for highly sensitive and early detection of cancer mutations, viral infections, bacterial pathogen infections, as well as inherited disease screening in ways Dr. Kary Mullis and the Nobel Prize selection team could only dream of 30 years ago. What RainDrop produces is not just discernable data, but actionable data, and it is showing great promise in making liquid biopsies the emerging standard of care, further reducing healthcare costs by identifying inherited diseases and cancer earlier and less invasively, potentially making tissue biopsies a thing of the past.
Digital PCR is just one example of the digitization of medicine. Applying smart data to solve big problems – what the tech world does best.
Bill Ericson is a general partner with VC firm Mohr Davidow Ventures.