Thanks to technology improvements and automation, there have been huge strides recently in DNA sequencing platforms — and that’s promising news for efforts to bring this valuable tool into mainstream healthcare.
DNA sequencing has already been a poster child for how technology innovation can drive costs lower. The Human Genome Project, which sequenced the very first human genome in the 1990s and early 2000s, had a budget of about $3 billion. Granted, not all of that money went directly to the sequencing effort; the first genome sequenced probably cost taxpayers about $1 billion.
But after that, scientists wanted to sequence a lot more genomes — and they knew they couldn’t scrounge up $1 billion for each one. Tremendous effort went into developing newer, better, cheaper technologies for reading a genome sequence. By 2006, a number of so-called “massively parallel” sequencing technologies were in development or entering the market.
That was the start of a free-fall in sequencing costs. The National Human Genome Research Institute, part of the National Institutes of Health, has tracked these costs for decades. By 2008, scientists noticed that sequencing technology was outperforming the legendary Moore’s Law, which predicted exponential improvements in cost and performance for semiconductor chips. By 2015, the cost to sequence a single human genome was approaching $1,000.
The remarkable pace of technical and cost improvements continued until this decade, when it appeared that DNA sequencing technology had finally reached a plateau. The vast majority of projects today are conducted with technology sold by Illumina, which has such a monopoly in the market that the Federal Trade Commission was able to block its attempt to acquire a much smaller rival sequencing company back in 2019. With Illumina’s tight grip on the market, industry observers began to doubt that sequencing costs would drop substantially in the future.
But recently, a number of upstarts have jumped into the sequencing field with new technology platforms that are reigniting efforts to drive costs down even further. Some of these companies focus on delivering higher-quality genomes or faster results, while others aim to ramp up the number of genomes that can be sequenced in a fixed period. The new players are taking advantage of advanced chemistries, materials, and approaches to reading genomes to make an impact.
While it’s far too early to say which of these companies and technologies might have staying power, the collective effect of all of this investment is easier to predict: with so much competition, DNA sequencing costs should fall faster than they have in recent years. In the not-too-distant future, that should put us at the point where it’s cost-effective enough to sequence each patient’s genome. That would be a huge step in enabling precision medicine for everyone by identifying patients likely to develop certain diseases and providing proactive care or even preventing the disease entirely. Genomics-based precision medicine can also match patients to the medications most likely to work for them, link patients to clinical trials, and even help determine when invasive treatments such as surgery might be safely avoided.