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The $100 Genome: Where’s the Limit?

Few advancements in the life sciences field have been as transformative as the ability to sequence the human genome. Since the completion of the Human Genome Project in 2003, the field has evolved at an unprecedented rate, fuelled largely by the continuous reduction in the cost of sequencing.

In this feature, we explore the timeline of decreasing sequencing costs, and take a look at where we are now and where we’re going.

The Human Genome Revolution

As little as three decades ago, the prospect of sequencing an individual’s entire genome seemed like an insurmountable task – both in terms of time and cost. The Human Genome Project, which was completed in 2003, laid the foundation for genome sequencing and provided an invaluable reference. However, the idea that individuals could have their genomes sequenced for a relatively low cost still seemed like a momentous challenge. In fact, the Human Genome Project itself cost upwards of $2.7billion – and didn’t even span the entire genome! The costs associated with the project were largely attributed to the need to use expensive, low-throughput Sanger sequencing, an endeavour that required the input of scientists all around the world.

Looking for a history of sequencing technologies?

The completion of the Human Genome Project and production of a reference genome spurred innovations in sequencing technologies. By 2007, it was estimated that the cost of sequencing had dropped to around $1 per base pair, a significant improvement from the days of the Human Genome Project. Competition between up-and-coming sequencing companies, improved methodologies and increased computational power, allowing for better interpretation, all contributed to this decrease.

But with 3 billion base pairs in the human genome, this was still an unattainable expense for those looking to sequence individual genomes. Continued technological advancement championed by companies such as Illumina, BGI and Roche led to further decreases in the cost of sequencing, and by 2010, high-throughput next generation sequencing could be achieved for less than $100,000 per genome. Emerging technologies such as those pioneered by PacBio, Oxford Nanopore and others further decreased the cost of sequencing throughout the 2010s. As of 2024, sequencing giant Illumina claimed it could achieve whole genome sequencing for as little as $200.

How did Illumina come to dominate the sequencing market?

Tracking the Costs

The National Human Genome Research Institute tracks the cost of sequencing at all centres they fund. This data is available on their website and currently covers the period between 2001-2022. The cost per megabase of DNA and cost per genome can be seen in the graphs below. In each case, the declining costs are compared to the predicted outcome should the cost of sequencing follow Moore’s Law, a computational hypothesis that assumes ‘compute power’ doubles every two years. Technologies that keep up with, or exceed, the pace of Moore’s Law are though to performing well, and the cost of sequencing seems to vastly overtake the hypothesised data from 2008 onwards.

Figures 1 and 2: Graphs showing the decreasing cost of sequencing over time, compared to what would be predicted by Moore’s Law. Sourced from the National Human Genome Research Institute.

The $100 Genome

In 2022, biotech startup Ultima Genomics made waves with their announcement that they were aiming to sequence the human genome for just $100. However, the company only publicly launched their sequencing technology in early 2024, and are currently providing the equipment to a select few facilities.

Describing themselves as ‘unleashing the power of genomics at scale’, Ultima Genomics UG100 platform deploys a chemical process that promises to be significantly cheaper than that pioneered by their competitors. Recent data has shown that the sequencing performance from the UG100 was ‘very similar’ to Illumina sequencing for a single-cell sequencing experiment. The suggestion is that the UG100 could be particularly useful for cost-effective, large-scale sequencing/scRNA-seq projects, beneficial for those looking for high-throughput applications.

But with Ultima Genomics still running a relatively small operation, can the $100 genome really become a reality for the masses?

Download the Sequencing Buyer’s Guide now.

Who can benefit from lowered costs?

Despite the rise of new players in the sequencing game, and the continuing lowered costs of obtaining whole genome data, the market remains dominated by giants like Illumina, who currently hold roughly 80% of the sequencing market share. Illumina, of course, has driven important breakthroughs in the field, but some sequencing experts are calling for more diversity and competition.

So, how realistic is it that we’ll be able to obtain whole genome sequences for sub-$100? Ultimately, the machines that claim to be capable of performing this momentous task are few and far between, and even if they were more widely available, they will likely be constrained to large-scale research labs. The chances of the general public being able to pay this low cost via direct-to-consumer companies are relatively slim with current technology, with companies like 23&Me only genotyping a select number of loci due to the expense of whole genome sequencing.

The areas where rapidly lowering sequencing costs will have the most impact are in fields such as newborn sequencing. There have been calls in recent years for all infants to have their genomes sequenced at birth to test for rare disease and to create a better health record throughout life, although critics have opposed introducing this as a widespread practice. Aside from this, cheap whole genome sequencing will likely be of most use in specialised research labs.

Is $100 the limit?

Whilst the cost of sequencing has rapidly outpaced Moore’s Law for well over a decade now, there is likely to be a limit. Sequencing requires specialised equipment, the input of expert scientists and raw materials that all come at a cost. It’s challenging to predict an exact figure for how cheap sequencing could one day be, but as we reach the threshold in terms of cost, the real progress will be in ensuring that the benefits reach the masses. This will come in the form of global dissemination of resources, the integration of sequencing data into health records and the development of more convenient benchtop units for ease of use.

It’s clear that the sequencing market is in a very healthy shape right now, with many companies investing into more cost-effective and efficient resources and a number of startups dipping their toes into the field. This healthy competition will drive new innovation, which is sure to positively impact healthcare and our understanding of human life.

Download the Sequencing Buyer’s Guide now.

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