First came genomics for scientists. Then came genomics for Big Pharma. But this year, at a faster pace than many industry insiders anticipated, we’re seeing genomics enter the world of real-life care for patients.
This idea would have sounded like science fiction a couple years ago. It took researchers 13 years and about $3 billion to complete the Human Genome Project, to come up with one complete genome that carries the instructions for making cells. A decade later, companies like Illumina (NASDAQ: [[ticker:ILMN]]) and Life Technologies (NASDAQ: [[ticker:LIFE]]) are in a fierce competition to sequence genomes at industrial scale, for as little as $1,000 apiece in a single day.
This breathtaking advancement is enabling scientists to ask questions they never could have dreamed of asking a few years ago, about what makes people different and what causes disease. A deeper understanding of the human genome paved the way for two important personalized cancer drugs last year from Roche and Pfizer, and it is helping guide many more therapies in the works.
It’s heady stuff, moving forward at an incredibly fast pace.
Much of this genomic advancement makes for good headlines, but is still quite remote from the average patient on a visit to see their physician. But this year we are seeing an increasing wave of demand emerging from hospitals, clinics, and leading physicians who want to take advantage of the new fast and cheap sequencing tools to see if they can be used to help patients.
Steve Jobs and Christopher Hitchens were high-profile examples last year of cancer patients who got their genomes sequenced, in the hope of learning more about the genetics of their tumors, in order to better fight them. And even though there were no miracles to report on in the Jobs and Hitchens cases, the movement toward “medical genomics” or “clinical genomics” has started to take off. Cambridge, MA-based Foundation Medicine, which performs DNA sequencing on an array of 200 genes implicated in cancer, has seen a surge of demand among physicians ordering its test and summary reports, even before the company was ready to begin marketing. Cambridge, MA-based Knome, which provides genomic analysis software as a service, is announcing this week that it has gotten so much demand from physicians that it is beginning to offer a new version of its software geared for physicians treating patients.
Consider the story at Foundation Medicine. This small company, backed by Kleiner Perkins Caufield & Byers and Google Ventures , among others, got set up with its first commercially licensed DNA sequencing lab late last fall. The company wasn’t in position in the early days to receive large volumes of tumor samples, sequence them, and deliver useful reports back to clinicians. The company was, and still is, generating the bulk of its revenue from providing its service to drugmakers like Novartis, Sanofi, and Celgene, who use it to help inform their drug development strategies, CEO Mike Pellini says.
But even without actively promoting its service to physicians, Foundation learned that demand is increasing. More than 175 oncologists ordered genetic tests from Foundation Medicine for about 400 different patients before the company began active marketing, says Pellini, a former GE Healthcare executive. Foundation now expects that number to grow, as it officially rolled out its tumor-sequencing service earlier this month at the American Society of Clinical Oncology (ASCO) meeting in Chicago.
“A couple things have surprised me in the past year, and at the top of the list is the clinical demand we’re seeing,” Pellini says. “We always expected this approach would ultimately be adopted by oncologists in the academic and community settings. But the speed of adoption appears to be faster than many of us anticipated.”
Like Foundation Medicine, Knome is also seeing demand grow from doctors. Some of the country’s leading institutions, like the Mayo Clinic, Johns Hopkins, and MD Anderson Cancer Center are making aggressive pushes to incorporate genomic screening into care of cancer patients. Without an active marketing effort, Knome CEO Martin Tolar says his company has had inbound requests from 50 different hospitals that want to start sequencing patients’ genomes, and who need help from software to interpret these massive files with 6 billion DNA datapoints per person.
It’s not just Mayo and Hopkins, he says, but also regional hospital systems in Pennsylvania, Virginia, and elsewhere. Some of the hospitals are thinking big, about analyzing thousands or tens of thousands of genomes per year, Tolar says.
To deal with the surge in demand, Knomeis rolling out a new version of its software this week specifically for clinicians, mainly for those who treat cancer patients and genetic disorders in children.
“It has been incredible, like a firestorm,” Tolar says. “Last fall, I thought it would be 3-5 years before the clinics would be ready for that. They are saying to us they want it now.”
There is good reason to be excited about genomics, but this is the point in the story where everybody should just take a deep breath and come to their senses. Just because we can sequence the genome of a patient’s tumor, and compare it to the genome from healthy cells, doesn’t mean we get any information that a doctor can use to save someone’s life.
It’s possible that scanning the genome could
