The Bottleneck: A Classic Hurdle

As we all know, bottlenecks happen constantly, in life and in science. Many are at least somewhat predictable and preventable. There has been discussion recently in life sciences about the pending bottleneck represented by the growing and significant amount of genomic data being amassed by various sequencing companies. Last month, sequencing companies in the US, including Complete Genomics, discussed the need to have a central clearinghouse for all the data we have and the data to come, as sequencing continues on its path to becoming more affordable. The argument—a solid one, and one made elsewhere—is that in order for genomics to realize its potential in personalized medicine, data will need to be easily accessible for all researchers, and eventually doctors. 

With the advent of “cloud” technology, this can become reality, perhaps not as quickly as predicted by the swarm of companies calling for it, and/or working in the field. There will likely be privacy, cost, and regulatory issues to be dealt with first—but this is an idea whose time has more than come. Companies in the sequencing game recognize that their growth and the impact of sequencing is tied to how this data is used. Making it accessible to researchers and scientists will be the key. In this spending-constrained era, most healthcare systems do not have the resources or IT space to develop a large application to run through all the genomic data. The advent of cloud technology has turned this notion on its head.

To this end, several groups have begun developing systems that enable the massive amounts of genomic data to be used by doctors and scientists alike. In theory, the data can be accessed to help with diagnoses, as well as to aid in the development of targeted treatments. The UK has a consortium of groups, led by Eagle Genomics Ltd and partially funded by the Technology Strategy Board, working on developing a “genetics cloud.” BGI, the very large sequencing company based in China, is working on something similar for use with its data. Last week, DNAnexus, a California-based start-up, raised a second round of financing to the tune of $15 million to fund development of its DNA data management and analysis platform. The round was co-led by TPG and Google Ventures. All players mentioned here have a common goal:  to develop a central store for the genomics data being collected every day.

These programs are a start in clearing up the looming bottleneck. The very real promise of genomic data and its uses to improve diagnosis and treatment of a wide-range of diseases and conditions is coming to fruition. Private companies and government entities see the wisdom of putting it together in one place. Of course, there are still matters to figure out—who will own the intellectual property; how are profits shared/divided that are derived from genes that are identified by one group but that are developed into therapeutics or diagnostic tests by another group are two examples.  However, to enable the sorting and matching of tons of sequenced data to help find common genetic links—or to better a diagnosis—is a big step forward in the evolution of sequencing and “personalized medicine.”