In his 2005 commencement speech at Stanford University, Steve Jobs talked about the path we follow in life, saying, “You can’t connect the dots looking forward. You can only connect them looking backwards.”
The same could be said about innovation.
We cannot know that a particular innovationis the right path to follow as we move forward. Nevertheless, it is clear that this is an exciting time—perhaps the most exciting time—for innovation in both biology and technology. We can look back over the past 15 years and nearly $3 billion spent to sequence the first human genome, and see how one idea led to another and another. By connecting the dots since then, it has become now possible to sequence over 45 human genomes in a single day for roughly $1,000 each.
The significance of all this became manifest at our Xconomy Forum on Big Data Meets Big Biology, which drew an overflow crowd to the Illumina Theater at the Alexandria. For all the progress made so far, we still are just at the beginning in terms of laying down a foundation for the next generation of healthcare.
Perhaps someday it also will be possible to look back at the early years of innovation as genomics came together with software and high-performance computing technology, and we will be able to see how at least some of those dots were connected in San Diego.
I want to add a note of thanks to Illumina, our event host and platinum sponsor, for making this forum possible; our gold event sponsors, EMC2 and Johnson & Johnson Innovation (JLabs); and our silver event sponsors: Alt; Mayer Hoffman McCann; the San Diego Regional Economic Development Corp.; and SGI-DNA.
I also want to thank Eric Cardella of Big Picture Company for the photos (featured in our slideshow above), and of course a huge thank-you to our speakers and attendees, who made the event memorable from beginning to end.
Here are some high-level observations and speaker attributions from the forum:
1) Genomics is a big data challenge that requires an integrated, system of systems approach. As Illumina president Francis deSouza noted in his opening remarks, the data required by Netflix for all of its digital movies, television series, and other online programs is roughly equivalent to 200,000 human genomes. The centerpiece of a U.S. “precision medicine” initiative announced last year is a population-scale study of 1 million American individuals and their genomes.
2) Next-generation genome sequencing makes it possible to sequence millions of DNA fragments in a massively parallel fashion. This requires a huge computational effort, and many companies have developed innovative software to improve the speed and efficiency of assembling these DNA fragments into a whole genome. Yet even after genome assembly, there is still a tremendous amount of work needed to identify and annotate genomic variations and in determining the biological significance of these variants in disease. The need for innovation in this area is critical, and Nicholas Schork of the J. Craig Venter institute identified numerous computing gaps or bottlenecks where the process could be far more efficient. In the end, identifying genetic variants associated with disease means nothing if there is no integration of interpretation and analysis with a multi-disciplinary approach to personalized medicine and patient care.
3) The goal of technology innovation in the genomic revolution is to develop the IT infrastructure that can provide streamlined solutions for healthcare, according to Edico Genome CEO Pieter van Rooyen. Users should not have to understand the complexity of the system or the software.
4) Billions of dollars are being invested in digital health in an effort to make healthcare more efficient. With the Affordable Care Act bringing millions of additional people insurance coverage, the same physician base has to see many more patients. Venture investors like Lucian Iancovici of the Qualcomm Life fund and Kim Kamdar of Domain Associates are asking, how can technology innovation help inform physicians of the right approaches they should be taking with their patients? Consumers also should be knowledgeable about their baseline health. As consumers, we should own that baseline health data, so we know when things start to go off the rails.
5) The microbiome is the ultimate in big data science, according to Rob Knight of UC San Diego. There are 100 million times as many bacteria on Earth as there are stars in the universe. The human genome has about 20,000 genes, but the microbiome has between 2 million and 20 million genes. The microbes living on our skin make people 10 times more attractive to mosquitos, and can even be used in forensics. Traces of microbial DNA left by our fingertips on a keyboard can be matched with over 90 percent accuracy.
6) Stephen Kingsmore, president of the Rady Pediatric Genomics and Systems Medicine Institute in San Diego, said many challenges remain in efforts to use genomics to help diagnose critically ill newborns. Genetic illnesses affect 4 percent of children and are the leading cause of death in pediatric and neonatal intensive care units, Kingsmore said. Among the many challenges in making a differential diagnosis is that there are more than 8,000 genetic diseases, and relatively few genetic counselors. Next-generation sequencing also takes too long to change many outcomes, and health insurance reimbursement is needed for genomic testing. More technology innovation is needed.
