I am a serial entrepreneur who has spent the past couple of decades advancing the front lines of technology in digital healthcare, wireless communications, and semiconductor industries. And I’ve been experiencing a déjà vu moment in genomics.
Back in 1994, when I was designing electrical circuits as part of my doctorate program at the University of Johannesburg, the first smartphone hit the market. It sold for a little over $1,000. Still, that actually seemed like a great deal compared with a decade earlier, when the very first cell phone cost nearly $4,000.
Consumer adoption was still very low in the mid-1990s. The mobile phones of the time were expensive and clunky—and the cellular communications industry hadn’t yet come to a consensus on standards for networks, radio access, and other key infrastructure.
The underlying issue was that each smartphone company was looking to push its own proprietary technology and homegrown tools. With a lack of commonalities among them, the market was fragmented and expensive, leaving the average consumer confused and leery about which technology to choose.
It wasn’t until the late-1990s, when key industry players finally came together to set shared standards and pool their intellectual property, that the smartphone innovation was truly unleashed. Because of those efforts, mobile phone use has become nearly universal—the latest Mobility Report from Ericsson estimates there are now more than 2.6 billion smartphone subscriptions around the world.
Today, we’re at a stage in the advance of genomic sequencing technologies that has me feeling like it’s 1994 all over again.
Just as only a small percentage of people in the early 1990s had a smartphone, only a small percentage of people today have had their genome sequenced. The healthcare industry is only seeing the beginning of the insights that can be obtained with genomic data.
A wave of innovation waits to be unleashed. But first, standards are needed.
A Real Risk of Balkanized Systems
As the field of genomics transitions from predominantly research-focused applications to clinical medicine, the industry must adopt a common framework that will help the healthcare community and consumers more easily access and interpret genomic data.
While the $1,000 genome is now a reality—ushered in by Illumina’s HiSeq X Ten, which enables population-scale sequencing—we have much work to do before scientists, pharma, doctors, and patients can fully realize what’s possible.
The genomics industry today is disjointed, just as the cellular industry once was. This adds unnecessary time, expense, and confusion to medical discovery and healthcare. With sequencing platforms and genomics organizations operating in silos, the existing system is not properly set up for sharing and interpreting genomic information as effectively as possible.
The good news is that hard work on this front has begun—notably with the formation of the Global Alliance for Genomics and Health. The organization includes 300-plus institutions across healthcare, research, life science, and information technology, all moving toward a common goal to create shared standards for genomic data.
As the annual meeting of the American Society of Human Genetics approaches, task forces are exploring issues of privacy, security, ethics, and clinical use. Particularly compelling is the Beacon Project, a pursuit of the Global Alliance’s data group, which is testing the willingness of major international genomic organizations to share genomic data with one another.
The open, Web-based sharing of the Beacon Project is intended to be technically simple and easy to implement, without the risk of violating patient privacy. The ultimate goal is to eliminate silos of genetic information, and instead create massive data sets that hold the promise of discoveries with high clinical relevance. With more data at hand, we can spot patterns and make faster connections between biomarkers and disease. And that leads to better diagnostics and therapies.
The Time Is Now for Genomics
Today, an estimated 70 percent of genomics activities are research-focused and 30 percent involve clinical work. We expect those numbers to reverse in the next five years or so, making this a crucial time of transition for the field.
While the industry will undoubtedly grow even without standards, not having them in place will present serious problems that will become harder to fix the longer we wait. If industry standards aren’t adopted soon, we’ll start experiencing another déjà vu moment, reminiscent of Balkanized efforts to make electronic medical records a standardized piece of healthcare.
Just as smartphones are at the center of our lives today, our genomes will play a similar and arguably larger role in the future.
Whether or not major sequencing companies will go so far as to embrace patent pooling as smartphone makers did, the industry can still make an enormous impact by adopting standards for technology and data sharing that would ignite medical discovery and lower healthcare costs. That is what’s needed for clinical genomics to flourish, as it should.
