Recently, both Illumina and Life Technologies announced new lines of genetic sequencing devices capable of greater speed and fidelity in genome sequencing, and at lower costs, than ever before. This new generation of sequencing technology holds the promise of a $1,000 human genome sequence in less than a day. While the “race to the bottom” of genome sequencing technology has been ongoing for years – bringing costs down from millions to thousands and the timelines from years to hours – this advancement is a milestone. The $1,000 genome is finally within reach.
$1,000 has been the number to beat for a long time because it represents a cost that is relatively approachable from a clinical, medical perspective. $1,000 is within the reach of patients and insurance companies and could find itself into hospitals and clinics with increasing reach. Accessing your own personal information has never been cheaper and faster than it is today, and we can only estimate the effects that that access and that information will elicit. Diagnostic sequencing could identify risk factors, pathogenic mutations and help tailor treatments to fit a patient’s personal profile (limiting drug-drug interference and other unintended and potentially-harmful interactions). At the same time, the risk for genetic eavesdropping is higher than ever. We’ve been exposed for years to the dystopic visions of genetic profiling throughout society and we’re only now at the beginning of that threat taking shape. I have no doubt that there’s significant debate coming down the line for genomic privacy rights, and frankly, I’m looking forward to hearing the discourse that will ensue.
Still, as significant as this benchmark is, it’s not the end. Not by a long shot. The Archon Genomic X Prize is still a year away, and I have no doubt that within that time, technology will enable a race that exceeds the current goal by leaps and bounds. 100 genomes in 30 days? How about 200? First one to 1000 wins, maybe? 2013 is still a ways away and there’s every indication that the downward slope in the time and cost curves will continue. Or such, at least, is my hope.
Truthfully, my interests for sequencing technology only start with humans. Sure, there’s a medical and diagnostic significance to human genomic data, but our A’s, T’s, G’s and C’s are principally sorted by now. The world is teeming with life that we haven’t yet begun to recognize, let alone understand. With sequencing technology and techniques that offer insight into the function of organisms currently beyond our ability to characterize, we can develop a reservoir of genomic and genetic data that can contribute to a more complete understanding of life on (and off?) earth. Life as we know is just that – as we know it. With the forward sprint of sequencing technology, what we know about life will grow and expand and answer questions we’re only beginning to ponder. How this understanding will impact us down the line – perhaps ultimately in the form of artificial and intentional genomic synthesis – I can’t yet say, but the possibilities seem to be growing by the day. It’s justifiably exciting.