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$1,000 genome is here (at last)

Last week, San Diego life sciences equipment developer, Illumina, announced the arrival of the $1,000 genome. According to their stats, running an entire human genome through one of their fast process HiSeqX 10 sequencing machines could spit out the US$1,000 result in a day. Although commercial companies already offer personal partial genome analysis for a lower price, the Illumina revelation places widespread, population-based whole-genome profiling in the realm of possibility rather than science fiction.

Image of DNA duplication showing strand separation and formation of complement strands.
US Department of Energy, Public domain, via Wikimedia Commons

Why is this exciting?

Well, when the first human genome was fully sequenced, it took approximately 10 years to accomplish and cost well over $3 billion. Although the price has been dropping over the last decade, it’s never really broken through $3,000 until recently, even with advances in chip-based sequencing technology. The industry, meaning the research community, has been looking forward to a $1,000-per-genome price tag for a long time now, as this is where large-scale DNA sequencing for entire populations becomes feasible.

Can’t we already do this?

Yes, personal genome services! It’s worth noting that companies offering individual DNA readouts, usually from cells scraped from inside your cheek or collected in saliva, only examine a tiny fraction of the 3 billion-base human genome, focusing on short, “newsworthy” stretches. Currently they offer paternity or genealogy testing, but in the past, they’ve offered advice on disease risk and treatment options. These latter observations are based on previously published studies and, when offered without medical support, have attracted some controversy.

So how will a $1,000 genome benefit us as medical consumers?

First, forget the idea of walking into your doctor’s office and slapping $1,000 down on the desk. For one thing, the costs announced by Illumina include only the equipment, reagents and sample prep for companies running a bank of ten HiSeq X10 machines 24/7. There is no mention of the basics, like electricity, housing and staffing, for example. Neither is there mention of data storage: each human genome generates 780MB of basic data, or around one DVD of information. The Illumina machines can each generate 16 genomes every three days, or approximately 18,000 complete human genomes per year. And then there’s the processing power required to analyze the results, and the medical expertise to interpret them for the consumer.

Aha—so it’s for humanity?

It’s not an individual benefit in the short term, unless you are one of the few who can afford to get a whole genome sequenced (and analyzed). What the $1,000 genome means is that research groups can conduct widespread investigations in large populations, looking at the genetic code surrounding gene mutations to investigate correlations and build population-specific trends. They can look beyond the exome and into the surrounding regions of code, investigating whether it is junk or not. With these vast amounts of genetic information, researchers can potentially unravel disease pathophysiology, identify potential treatments and develop preventive measures. Large-scale genetic mapping like this may lead to more personalized treatment choices, revolutionizing cancer treatment, for example, so much so that the United Kingwom is investing heavily in a population sequencing program.

Ultimately it will herald a new era in personalized medicine: as Jay Flatley, CEO of Illumina, puts it, we’re “entering the supersonic age of genomics.” Buckle up!

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