Mapping the “blueprint for building a person” is no small undertaking.
While the Human Genome Project formally began in 1990 and was completed in 2003, researchers continue to study the role of genes and proteins in building life.
The discovery of DNA is considered by some to be “the most important biological work of the last 100 years,” and perhaps “the scientific frontier for the next 100.”
Little did Watson and Crick know that when they first suggested the double helix structure for DNA, having one’s personal genome mapped could later become an affordable diagnostic test to personalize medical treatment for all.
At least that is the vision of genomics experts like DNAnexus CEO and co-Founder Andreas Sundquist.
And, according to Dr. Sundquist, “DNAnexus would not exist if not for the cloud.”
Founded in 2009, DNAnexus is a Silicon Valley start-up who early on recognized how cloud computing could provide the ideal solution for scalable compute power and data storage to “power the genomics revolution.”
Many genomics researchers today agree that cloud computing is the only compute model that can provide the elastic scale needed for DNA sequencing, whose rate of technology advancement could now exceed Moore’s Law.
For example, it took 13 years to map the first genome, at a cost of several billion dollars. In less than 10 years, the time and cost of DNA sequencing of another genome was reduced by a factor of 1 million. And today, your or my personal genome could be mapped in just a few days for a few thousand dollars.
Personal genomics is a key enabler for predictive medicine, for which a patient’s genetic profile can be used to determine the most appropriate medical treatment. For example, which chemotherapy drug or other treatment for breast cancer would be the most effective combatant with the fewest side effects? That choice might differ from one woman to another based on personal genetics, and it could make a huge difference in the ability to tolerate intensive treatment.
In 2-3 more years, mapping a personal genome could cost as little as a few hundred dollars, or who knows?
In terms of size, a personal genome has about 100 gigabytes of data, or the equivalent of 102,400 photos. A million genomes would therefore constitute hundreds of petabytes of data. One can only imagine how the data volume would skyrocket from there, as more people had their DNA sequenced to uncover their genetic profile.
Today’s 1000 Genomes Project was launched by a public/private consortium to build out the most detailed map of human genetic variation available. This project reposits the largest central database of genomic data publically available. The database is managed by the National Center for Biotechnology Information (NCBI), who has recently made it more broadly available viaAmazon Web Services. The cloud’s nearly infinite scale will address any future need for continuous data storage.
DNAnexus recognized early on that computation and data storage – not sequencing technology – would become the limiting factor to continue innovating beyond the initial Human Genome Project at such a fast pace.
So DNAnexus built a low-cost web interface to provide their state-of-the-art genomic analysis and visualization tools for DNA sequencing as a service, with automatic data upload to scalable infrastructure powered by AWS.
Using DNAnexus solutions in the cloud, biologists can now push a button to immediately access sophisticated tools and infrastructure, without having to wait for expert bioinformatics colleagues to assist with complex computational projects.
And, researchers all over the world can collaborate and share data with ease because the data is instantly accessible from one central location. Many clinical researchers and biopharmaceutical partners can now collaborate through DNAnexus per its ability to make both tools and data sets available via the cloud.
Perhaps the greatest “cloud power” possible but not yet fully tapped will be the ability to offer a) Platform as a Service for broad development of new analysis and visualization tools, and b) Software as a Service for use of those tools with shared data sets in a secure, collaborative workspace.
Dr. Sundquist likens the opportunity to a “genomics version” of an iPhone App Store, from which hundreds of specialty applications can be developed by technologists all over the world and instantly downloaded from one central place.
In fact, an entirely new genomics industry could be made possible by cloud computing, which will transform medicine and life sciences to benefit the world’s seven billion people.
One of the most intriguing insights from Dr. Sundquist was that, while DNAnexus is pioneering a field that is heavily dependent upon IT infrastructure, he employs not a single IT person.
Instead, the role of IT is “subsumed by the software developers,” who are also developing the core product. And, the IT infrastructure management is owned by the cloud services provider, who can manage it more cost-effectively.
So the savings for DNAnexus in product time-to-market rather then IT time-to-build is months – and for a start-up funded by venture capital partners, achieving that kind of capital efficiency is a make-or-break proposition.
Having recently launched the Sand Hill study on how cloud computing is positively accelerating US job growth, I often hear the claim that cloud computing destroys jobs. In that scenario, cloud detractors are largely referring to administrative IT jobs.
However, the Sand Hill study makes clear that while some routine IT jobs will be impacted by the adoption of cloud computing, more value-added IT jobs will be needed to support the new compute model.
Additionally, the re-investment of IT cost efficiencies alone will fuel new revenue streams on a much larger scale than ever before. That could also create more jobs in a company’s business functions.
For DNAnexus, the IT savings means Dr. Sundquist can hire another “star developer” who might invent something new to further revolutionize medicine.
With such transformative technology made possible and even accelerated by the cloud – the result will be better health for all of us!