Published today on Wired.com by BY DANIELA HERNANDEZ
This wonderful article on the direction of #Genomics for the masses, the proverbial “cell phone moment” for the technology, is important and inspiring to read. I am bringing it here for you to consider.
After years of exotic and very expensive machines sequencing DNA, the genomics industry finally looks poised for its cell phone moment.
Soon, the business of genetics could look a lot like the commodity-driven mobile industry, with providers selling hardware on the cheap and relying on software, apps and diagnostics to drive revenue. And, as with the app-filled smartphones we keep close to us 24/7, genomics could finally become a much more intimate part of our lives.
“With smartphones it’s the data and apps where the high value has accrued over time. In the case of sequencing, it’s going to be something similar,” said Jorge Conde, CFO and co-founder of Knome, a genomic diagnostics company. The question, he says, then becomes whether the market looks like Apple’s walled garden, Microsoft’s more democratic model, or Google, where everything happens in the cloud.
In recent years, the industry has been working to solve the data storage and analysis bottlenecks resulting from an explosion of genetic data as sequencing costs have continued to drop. And they have succeeded. That means companies and institutions can finally focus on deciphering what all our genetic data actually means and how it might influence our risk for certain diseases. In other words, diagnostics is where the money is moving.
This shift is being catalyzed by a push by genomics, diagnostics and pharmaceutical giants to provide seamless services that include everything from genetic sequencing, to data analysis and interpretation, to reports medical providers can use in the clinic to make treatment decisions. The result might ultimately be the emergence of personalized medicine as the new standard of care.
“Today, most companies have a specific niche. The full integrated package is being promised but is not really being offered,” says Dr. Gianrico Farrugia, the director of the Mayo Clinic Center for Individualized Medicine. With the help of medical institutions and a growing number of companies setting out to provide these services, he says, we’re getting closer to that promise actually being realized.
Right now, the market for soup-to-nuts genomics is small — less than $50 million — but it could grow into a multi-billion dollar industry if insurance companies start paying for more kinds of genetic testing, says Andrew Kress, senior vice president of healthcare value solutions at IMS Health, a consulting firm. “Payers are open to just about anything if someone can demonstrate it’s lowering the overall cost of care.”
Other estimates suggest the market is already in the billions but agree it’s far from reaching its peak. The use of genetics is on the rise at major medical centers like Stanford, Vanderbilt, Mount Sinai, and the Mayo Clinic and annual spending on genetic tests has been steadily increasing, according to a UnitedHealthcare 2012 report.
The largest healthcare players in the industry are convinced we’re heading in this direction fast, and have been on a buying binge to cement their place in this new genomic order.
In 2007, Swiss pharmaceutical giant Roche acquired 454 Life Sciences to up its sequencing capabilities and last year, it attempted to takeover Illumina, which makes the world’s most widely used sequencing machines. In July, Life Technologies bought Navigenics, one of the first personal genomics companies. In September, Illumina bought UK-based BlueGnome, which specializes in pre-implantation genetic screening for in vitro fertilization, and last month, the sequencing giant paid a ballpark figure of $350 million in cash for Verinata Health, which sells a chromosomal test that scans a mom’s blood for traces of her baby’s DNA to detect possible birth defects.
And then, there is the most contentious of all recent deals — the bidding saga between Illumina and China’s BGI to acquire Complete Genomics a Mountain View-based company that developed its own sequencers and analysis platforms? After hand wringing about national security, BGI eventually won even though its reported offer of $118 million was lower than Illumina’s. The merger is pending approval. Illumina and Complete Genomics were not available for comment.
“All these guys are snatching up little companies to augment their markets,” says Joel Dudley, director of biomedical informatics at Mount Sinai School of Medicine in New York. “It makes you wonder how the little guys are going to compete.” And who the likely customers are.
Right now, most genetic testing happens in top-tier hospitals for conditions like cancer or rare genetic diseases and to test whether patients might have adverse reactions to certain medications. But it will likely become more mainstream as scientists and doctors learn more about the genome and genetic interpretation gets better and cheaper. Entrepreneurs are counting on it, and startups aiming to make genomic medicine as routine as having a blood test or getting an EKG are launching all the time.
Left: Courtesy Sandra Burkett, National Cancer Institute, CCR. Right: Frank Schwere
Young companies like Knome and Silicon Valley Biosystems (SV Bio) are trying to make it on their own (or perhaps to make themselves look as an attractive takeout target as possible) by providing clinical labs and doctors as close to a full service as possible, and they’re teaming up with academic institutions to help them make their products mainstream. Knome’s knoSYS platform, a $125,000 countertop appliance marketed as a lab in a box, crunches sequencing data from Illumina, Life Technologies and Complete Genomics sequencers and lets geneticists run tests from a set of preloaded or self-customized panels. knoSYS then creates a report, which can help physicians make medical decisions.
SV Bio, which recently partnered with the Mayo Clinic, takes Knome’s approach a step further: They provide a sequencing service using Illumina machines – a smart move since the quality of sequencing data tends to vary greatly. SV Bio uses patients’ saliva or blood samples to sequence their genome and then analyzes the resulting data with algorithms they’ve developed in-house to produce a 3-page report tailored for physicians, many of whom may not have a strong genetics background.
The next frontier for genomic medicine — and where much of the market value may actually lie — is in using genetic testing to screen patients at risk for developing chronic diseases like diabetes, high blood pressure, obesity and Alzheimer’s and to manage those patients with the medications that work best for their genetic makeup. That’s still years away, but we’re starting to see signs of this for certain types of cancer.
With big and small companies duking it out to make it big in this space, patients may stand to benefit. Whoever the top players in the industry end up being, they’ll likely compete on price and speed, which should not only decrease the strain on patients’ wallets but also on the anxiety they may feel while they await a diagnosis. Many genomic startups and even larger companies like Illumina are storing genetic data up in the Amazon cloud and making that data available through the web. Soon that data will be integrated with medical records and people will have 24/7 access to their whole genomes through mobile devices, like they do for their financial information today, says Stanford’s Dr. Euan Ashley, co-founder of another genomics startup, Personalis. “That future is not so far away.”